Variant report

Variant	rs1771146
Chromosome Location	chr22:20775247-20775248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:20775160-20775310	GM12873	blood:	n/a	n/a
2	CTCF	chr22:20775100-20775250	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr22:20775045-20775305	HepG2	liver:	n/a	n/a
4	CTCF	chr22:20775100-20775250	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr22:20775100-20775250	HPF	lung:	n/a	n/a
6	BHLHE40	chr22:20775114-20775468	K562	blood:	n/a	n/a
7	CTCF	chr22:20775140-20775290	HepG2	liver:	n/a	n/a
8	CTCF	chr22:20775140-20775290	GM12864	blood:	n/a	n/a
9	CTCF	chr22:20775240-20775390	GM12864	blood:	n/a	chr22:20775307-20775323
10	CTCF	chr22:20775180-20775330	GM06990	blood:	n/a	chr22:20775307-20775323
11	CTCF	chr22:20775100-20775430	MCF-7	breast:	n/a	chr22:20775307-20775323
12	CTCF	chr22:20775085-20775287	A549	lung:	n/a	n/a
13	CTCF	chr22:20775180-20775330	HEEpiC	esophagus:	n/a	chr22:20775307-20775323
14	CTCF	chr22:20774947-20775383	H1-hESC	embryonic stem cell:	n/a	chr22:20775307-20775323
15	CTCF	chr22:20775120-20775270	AG09319	gingival:	n/a	n/a
16	CTCF	chr22:20775220-20775370	GM12878	blood:	n/a	chr22:20775307-20775323
17	CTCF	chr22:20775160-20775310	HRE	kidney:	n/a	n/a
18	CTCF	chr22:20775100-20775248	GM19238	blood:	n/a	n/a
19	CTCF	chr22:20775140-20775290	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr22:20775240-20775390	AG10803	skin:	n/a	chr22:20775307-20775323
21	CTCF	chr22:20775092-20775283	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr22:20775120-20775270	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr22:20775100-20775250	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr22:20775200-20775350	HCT-116	colon:	n/a	chr22:20775307-20775323
25	CTCF	chr22:20775100-20775250	BE2_C	brain:	n/a	n/a
26	TEAD4	chr22:20774964-20775407	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr22:20775220-20775370	BJ	skin:	n/a	chr22:20775307-20775323
28	CTCF	chr22:20775056-20775344	HepG2	liver:	n/a	chr22:20775307-20775323
29	CTCF	chr22:20774952-20775647	MCF-7	breast:	n/a	chr22:20775307-20775323
30	CTCF	chr22:20775052-20775452	H1-hESC	embryonic stem cell:	n/a	chr22:20775307-20775323
31	CTCF	chr22:20775160-20775310	GM06990	blood:	n/a	n/a
32	CTCF	chr22:20775179-20775412	GM12878	blood:	n/a	chr22:20775307-20775323
33	USF2	chr22:20775074-20775252	HepG2	liver:	n/a	n/a
34	CTCF	chr22:20775200-20775350	RPTEC	kidney:	n/a	chr22:20775307-20775323
35	CTCF	chr22:20775043-20775333	H1-hESC	embryonic stem cell:	n/a	chr22:20775307-20775323
36	SMC3	chr22:20774986-20775445	HepG2	liver:	n/a	chr22:20775094-20775101 chr22:20775380-20775387
37	CTCF	chr22:20775124-20775437	MCF-7	breast:	n/a	chr22:20775307-20775323
38	CTCF	chr22:20775180-20775330	HRE	kidney:	n/a	chr22:20775307-20775323
39	MYBL2	chr22:20775043-20775421	HepG2	liver:	n/a	n/a
40	CTCF	chr22:20774938-20775391	HepG2	liver:	n/a	chr22:20775307-20775323
41	CTCF	chr22:20775100-20775250	HCM	heart:	n/a	n/a
42	CTCF	chr22:20775140-20775290	SAEC	small airway:	n/a	n/a
43	CTCF	chr22:20775140-20775290	AG09309	skin:	n/a	n/a
44	CTCF	chr22:20775140-20775290	GM12873	blood:	n/a	n/a
45	CTCF	chr22:20775088-20775412	MCF-7	breast:	n/a	chr22:20775307-20775323
46	CTCF	chr22:20775200-20775350	GM12872	blood:	n/a	chr22:20775307-20775323
47	RAD21	chr22:20775078-20775375	HepG2	liver:	n/a	n/a
48	MAX	chr22:20775079-20775567	MCF-7	breast:	n/a	n/a
49	CTCF	chr22:20775100-20775250	A549	lung:	n/a	n/a
50	CTCF	chr22:20775028-20775390	GM12892	blood:	n/a	chr22:20775307-20775323

No.	Distal block	Cell Line	Cell type
1	chr22:20775056..20776864-chr22:20819344..20821871,2	K562	blood:
2	chr22:20773926..20776923-chr22:20787155..20789375,2	K562	blood:
3	chr22:20748529..20750261-chr22:20773050..20776564,4	K562	blood:
4	chr22:20765993..20768225-chr22:20773551..20775536,2	K562	blood:
5	chr22:20771930..20775784-chr22:20809121..20811896,66	K562	blood:
6	chr22:20773522..20776380-chr22:20959549..20962001,2	MCF-7	breast:
7	chr22:20773848..20776010-chr22:20838128..20840600,2	K562	blood:
8	chr22:20753656..20756032-chr22:20772509..20775334,2	K562	blood:
9	chr22:20773616..20775406-chr22:20932709..20934997,2	K562	blood:
10	chr22:20774512..20776803-chr22:20808357..20810838,2	K562	blood:
11	chr22:20772586..20776036-chr22:20810176..20812290,3	K562	blood:

Variant related genes	Relation type
RNU6-225P	TF binding region
ENSG00000236670	Chromatin interaction
ENSG00000099910	Chromatin interaction
ENSG00000185252	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1638039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1638041	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1638042	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1771145	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997411	0.87[JPT][hapmap]
rs6005680	0.87[JPT][hapmap]
rs6005740	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7286419	0.81[ASN][1000 genomes]
rs738085	0.81[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.83[ASN][1000 genomes]
rs738089	0.81[CEU][hapmap]
rs874101	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	nsv914396	chr22:20745201-20789074	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
50	nsv914397	chr22:20745201-20806361	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1771146	ZNF74	cis	multi-tissue	Pritchard
rs1771146	SLC25A1	cis	cerebellum	SCAN
rs1771146	BCL2L13	cis	parietal	SCAN
rs1771146	TUBA8	cis	parietal	SCAN
rs1771146	ATP6V1E1	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20761800-20779200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:20762600-20779400	Weak transcription	Lung	lung
3	chr22:20767000-20776400	Weak transcription	Fetal Lung	lung
4	chr22:20772800-20777800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:20773000-20775600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:20773000-20776400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:20773000-20776400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:20773000-20776400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr22:20773000-20776400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:20773000-20776400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:20773000-20776400	Weak transcription	Brain Germinal Matrix	brain
12	chr22:20773000-20776400	Weak transcription	NH-A	brain
13	chr22:20773000-20776400	Weak transcription	NHDF-Ad	bronchial
14	chr22:20773000-20776600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:20773000-20776600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:20773000-20776600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:20773000-20776600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:20773000-20776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:20773000-20776600	Weak transcription	Brain Angular Gyrus	brain
20	chr22:20773000-20776600	Weak transcription	Ovary	ovary
21	chr22:20773000-20776600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:20773000-20776600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr22:20773000-20776600	Weak transcription	Thymus	Thymus
24	chr22:20773000-20776600	Weak transcription	Dnd41	blood
25	chr22:20773000-20776600	Weak transcription	HSMM	muscle
26	chr22:20773000-20776800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:20773000-20776800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr22:20773000-20777200	Weak transcription	Brain Substantia Nigra	brain
29	chr22:20773000-20777200	Weak transcription	Right Ventricle	heart
30	chr22:20773000-20777200	Weak transcription	NHLF	lung
31	chr22:20773000-20777400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:20773000-20777400	Weak transcription	Fetal Brain Female	brain
33	chr22:20773000-20777400	Weak transcription	Left Ventricle	heart
34	chr22:20773000-20777400	Weak transcription	Pancreas	Pancrea
35	chr22:20773000-20777400	Weak transcription	Psoas Muscle	Psoas
36	chr22:20773000-20779400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr22:20773000-20781200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:20773000-20783000	Weak transcription	HUVEC	blood vessel
39	chr22:20773200-20776400	Weak transcription	Osteobl	bone
40	chr22:20773200-20776600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:20773200-20776600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr22:20773200-20777400	Weak transcription	Spleen	Spleen
43	chr22:20773200-20779000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr22:20773600-20776400	Weak transcription	Primary T cells from cord blood	blood
45	chr22:20773800-20775400	Enhancers	HepG2	liver
46	chr22:20773800-20776000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr22:20773800-20776400	Weak transcription	Fetal Muscle Leg	muscle
48	chr22:20773800-20776600	Weak transcription	Brain Hippocampus Middle	brain
49	chr22:20773800-20776600	Weak transcription	HSMMtube	muscle
50	chr22:20773800-20777000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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