Variant report

Variant	rs2266945
Chromosome Location	chr22:20748053-20748054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:232)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:232 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:20747904-20748887	SK-N-MC	brain:	n/a	n/a
2	HEY1	chr22:20747511-20749041	K562	blood:	n/a	chr22:20748372-20748387
3	POLR2A	chr22:20747973-20748567	GM12891	blood:	n/a	n/a
4	POLR2A	chr22:20747819-20748729	GM18526	blood:	n/a	n/a
5	REST	chr22:20747888-20748987	K562	blood:	n/a	n/a
6	SIX5	chr22:20748052-20748662	K562	blood:	n/a	chr22:20748284-20748298 chr22:20748397-20748411 chr22:20748286-20748295 chr22:20748398-20748407 chr22:20748400-20748409
7	POLR2A	chr22:20747210-20749748	K562	blood:	n/a	n/a
8	POLR2A	chr22:20747753-20749080	K562	blood:	n/a	n/a
9	POLR2A	chr22:20747677-20748896	MCF-7	breast:	n/a	n/a
10	RUNX3	chr22:20748010-20748979	GM12878	blood:	n/a	n/a
11	PML	chr22:20747506-20749084	K562	blood:	n/a	n/a
12	POLR2A	chr22:20747943-20748807	GM12878	blood:	n/a	n/a
13	MAFK	chr22:20747571-20748674	K562	blood:	n/a	chr22:20747796-20747813
14	POLR2A	chr22:20747549-20748696	GM12878	blood:	n/a	n/a
15	STAT5A	chr22:20747387-20749212	K562	blood:	n/a	chr22:20748278-20748301
16	POLR2A	chr22:20748047-20748695	Hela-S3	cervix:	n/a	n/a
17	MYC	chr22:20747964-20749096	K562	blood:	n/a	n/a
18	SIX5	chr22:20748029-20748689	K562	blood:	n/a	chr22:20748284-20748298 chr22:20748397-20748411 chr22:20748286-20748295 chr22:20748398-20748407 chr22:20748400-20748409
19	CBX3	chr22:20747494-20749265	K562	blood:	n/a	n/a
20	MAX	chr22:20748001-20749058	HepG2	liver:	n/a	n/a
21	POLR2A	chr22:20748036-20748770	SK-N-SH	brain:	n/a	n/a
22	ZNF384	chr22:20747947-20749220	K562	blood:	n/a	n/a
23	RCOR1	chr22:20747805-20748681	GM12878	blood:	n/a	n/a
24	HDAC2	chr22:20748040-20748861	MCF-7	breast:	n/a	n/a
25	TAF1	chr22:20747946-20748827	H1-neurons	neurons:	n/a	n/a
26	SETDB1	chr22:20747394-20748968	K562	blood:	n/a	chr22:20748284-20748308 chr22:20748423-20748432 chr22:20748387-20748411
27	HEY1	chr22:20747399-20749144	K562	blood:	n/a	chr22:20748372-20748387
28	POLR2A	chr22:20748008-20748749	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr22:20748016-20748714	HCT-116	colon:	n/a	n/a
30	TAF1	chr22:20748047-20748934	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr22:20748031-20748788	A549	lung:	n/a	n/a
32	HDAC2	chr22:20747775-20749005	K562	blood:	n/a	n/a
33	POLR2A	chr22:20747755-20748804	GM18951	blood:	n/a	n/a
34	YY1	chr22:20747863-20749092	K562	blood:	n/a	n/a
35	EP300	chr22:20748031-20748926	GM12878	blood:	n/a	chr22:20748442-20748458 chr22:20748441-20748457
36	BACH1	chr22:20747788-20748629	K562	blood:	n/a	n/a
37	TAF1	chr22:20747854-20749078	K562	blood:	n/a	n/a
38	POLR2A	chr22:20747465-20748800	GM12878	blood:	n/a	n/a
39	POLR2A	chr22:20747867-20748897	HL-60	blood:	n/a	n/a
40	CEBPD	chr22:20747298-20749083	K562	blood:	n/a	n/a
41	ZBTB7A	chr22:20747402-20749034	K562	blood:	n/a	n/a
42	CHD2	chr22:20747823-20748718	K562	blood:	n/a	n/a
43	POLR2A	chr22:20747597-20748683	GM12891	blood:	n/a	n/a
44	POLR2A	chr22:20748022-20748605	GM12891	blood:	n/a	n/a
45	KAP1	chr22:20748041-20748960	HEK293	kidney:	n/a	n/a
46	POLR2A	chr22:20747366-20748773	HL-60	blood:	n/a	n/a
47	YY1	chr22:20747967-20748552	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr22:20747958-20748848	HepG2	liver:	n/a	n/a
49	POLR2A	chr22:20748005-20749154	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr22:20747797-20748958	MCF-7	breast:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:20747192..20751120-chr22:20789736..20796379,8	K562	blood:
2	chr22:20190087..20192901-chr22:20746494..20748889,2	K562	blood:
3	chr22:20103044..20105998-chr22:20747918..20750566,2	K562	blood:
4	chr22:20747658..20750971-chr22:20791257..20794328,4	K562	blood:
5	chr22:20746710..20748813-chr22:20848271..20851288,3	K562	blood:
6	chr22:20746732..20749235-chr22:20936490..20938949,2	K562	blood:
7	chr22:20745876..20748666-chr22:21132002..21134652,3	K562	blood:
8	chr22:20286655..20288759-chr22:20746416..20749237,2	K562	blood:
9	chr22:20305008..20309233-chr22:20745056..20749818,6	K562	blood:
10	chr22:20746710..20750506-chr22:20848271..20851400,6	K562	blood:
11	chr22:20747002..20751315-chr22:20752903..20758331,10	MCF-7	breast:
12	chr22:20745887..20749598-chr22:20860814..20863598,4	K562	blood:
13	chr22:20747603..20752058-chr22:20875034..20878891,5	K562	blood:
14	chr22:20305880..20308844-chr22:20746915..20751265,6	K562	blood:
15	chr22:20745935..20751039-chr22:20860625..20865044,6	K562	blood:
16	chr22:20304415..20312117-chr22:20747096..20751443,9	MCF-7	breast:
17	chr22:20745421..20750259-chr22:20781607..20786254,5	K562	blood:
18	chr22:20747603..20749135-chr22:20877322..20878891,2	K562	blood:
19	chr22:20747868..20750073-chr22:20782291..20786147,3	K562	blood:
20	chr22:20746688..20748942-chr22:20802779..20804555,2	K562	blood:

No data

Variant related genes	Relation type
ZNF74	TF binding region
USP41	TF binding region
ENSG00000185252	Chromatin interaction
ENSG00000273343	Chromatin interaction
ENSG00000161132	Chromatin interaction
ENSG00000099901	Chromatin interaction
ENSG00000099937	Chromatin interaction
ENSG00000215493	Chromatin interaction
ENSG00000244486	Chromatin interaction
ENSG00000249923	Chromatin interaction
ENSG00000099917	Chromatin interaction
ENSG00000273139	Chromatin interaction
ENSG00000236003	Chromatin interaction
ENSG00000099899	Chromatin interaction
ENSG00000099910	Chromatin interaction
ENSG00000128185	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1013634	0.81[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs13055191	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13055393	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2108744	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35012563	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs361603	0.89[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap]
rs5761913	0.89[CHB][hapmap];0.84[GIH][hapmap]
rs60935923	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66674095	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7285976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7288007	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7289261	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs737811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9624173	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062789	chr22:20100465-20749579	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
2	nsv518950	chr22:20306993-20965555	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv432174	chr22:20309346-21102446	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
4	nsv1059066	chr22:20330744-20845128	Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1056614	chr22:20470598-21462724	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
6	nsv828952	chr22:20641693-20776004	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv828954	chr22:20641693-20904711	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv491637	chr22:20659547-21440514	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
9	nsv916634	chr22:20659547-21464119	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
10	nsv533942	chr22:20659547-21505417	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
11	nsv529472	chr22:20659547-21561514	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
12	nsv914390	chr22:20697466-21460008	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
13	nsv588291	chr22:20698139-21461274	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
14	nsv917647	chr22:20708889-21440515	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
15	nsv531742	chr22:20708890-21407690	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
16	nsv533852	chr22:20708890-21561514	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
17	nsv1061867	chr22:20716924-21462446	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
18	nsv1058870	chr22:20716924-21567219	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
19	nsv918225	chr22:20716924-21611338	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
20	nsv914391	chr22:20718116-20793914	Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
21	nsv914392	chr22:20718116-20817808	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv914393	chr22:20718116-21034788	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
23	nsv531744	chr22:20718170-21427936	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
24	nsv834135	chr22:20724378-20845563	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv915954	chr22:20732437-21505417	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
26	nsv588293	chr22:20732809-21004476	Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
27	nsv948669	chr22:20732809-21461607	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
28	nsv531746	chr22:20733427-21505417	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
29	nsv588294	chr22:20733495-21365384	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
30	nsv588295	chr22:20733495-21462353	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
31	nsv588296	chr22:20733495-21465780	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
32	nsv1061472	chr22:20734244-20858186	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
33	nsv1056065	chr22:20734244-21460658	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
34	nsv544586	chr22:20734244-21460658	Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
35	nsv519901	chr22:20737903-20783721	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
36	nsv834136	chr22:20738730-20891767	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
37	nsv1067074	chr22:20739124-21440654	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
38	nsv544587	chr22:20739124-21440654	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
39	nsv1066482	chr22:20739125-21440655	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
40	nsv544588	chr22:20739125-21440655	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
41	nsv1065725	chr22:20739324-20927615	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
42	nsv544589	chr22:20739324-20927615	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
43	nsv1063333	chr22:20739324-21353297	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
44	nsv544590	chr22:20739324-21353297	Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
45	nsv1059978	chr22:20739324-21440515	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
46	nsv544591	chr22:20739324-21440515	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
47	nsv914394	chr22:20741890-20789074	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
48	nsv949306	chr22:20742450-21461607	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
49	nsv523162	chr22:20743536-21462353	Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
50	nsv966078	chr22:20744745-20758321	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2266945	SLC25A1	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20747400-20748200	Flanking Active TSS	Dnd41	blood
2	chr22:20747600-20748200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:20747600-20748200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:20747600-20748200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr22:20747600-20748200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr22:20747600-20748200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr22:20747600-20748200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr22:20747600-20748200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr22:20747600-20748200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr22:20747600-20748200	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr22:20747600-20748200	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr22:20747600-20748200	Flanking Active TSS	Hela-S3	cervix
13	chr22:20747600-20748200	Flanking Active TSS	K562	blood
14	chr22:20747600-20748200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr22:20747600-20748400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr22:20747600-20748600	Enhancers	Fetal Brain Male	brain
17	chr22:20747600-20748800	Active TSS	Stomach Smooth Muscle	stomach
18	chr22:20747600-20749000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:20747600-20749000	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr22:20747600-20749000	Active TSS	Osteobl	bone
21	chr22:20747600-20749200	Active TSS	Brain Anterior Caudate	brain
22	chr22:20747600-20749200	Active TSS	Brain Substantia Nigra	brain
23	chr22:20747600-20749200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr22:20747600-20749600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr22:20747600-20750000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr22:20747600-20750000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr22:20747600-20750000	Active TSS	Fetal Kidney	kidney
28	chr22:20747600-20750800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:20747800-20748200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr22:20747800-20748200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:20747800-20748200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr22:20747800-20748200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr22:20747800-20748200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:20747800-20748200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr22:20747800-20748200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr22:20747800-20748200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr22:20747800-20748200	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr22:20747800-20748200	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr22:20747800-20748200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:20747800-20748200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr22:20747800-20748200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr22:20747800-20748200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr22:20747800-20748200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:20747800-20748200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:20747800-20748200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr22:20747800-20748200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr22:20747800-20748200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:20747800-20748200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:20747800-20748200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:20747800-20748200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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