Variant report

Variant	rs5757167
Chromosome Location	chr22:22522589-22522590
allele	A/C
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	TEAD4	chr22:22522271-22523456	K562	blood:	n/a	n/a
2	POLR2A	chr22:22522158-22523327	GM12892	blood:	n/a	n/a
3	USF2	chr22:22522325-22523362	GM12878	blood:	n/a	chr22:22523098-22523111 chr22:22523100-22523109 chr22:22523098-22523109 chr22:22523094-22523115 chr22:22523100-22523109 chr22:22523114-22523125
4	SPI1	chr22:22522358-22522835	HL-60	blood:	n/a	chr22:22522362-22522369 chr22:22522620-22522633 chr22:22522622-22522631
5	IKZF1	chr22:22522388-22523294	GM12878	blood:	n/a	n/a
6	MAZ	chr22:22522004-22522666	GM12878	blood:	n/a	n/a
7	ELF1	chr22:22522562-22523292	K562	blood:	n/a	n/a
8	POLR2A	chr22:22522196-22523290	GM12878	blood:	n/a	n/a
9	MAX	chr22:22522280-22523289	GM12878	blood:	n/a	chr22:22523099-22523108 chr22:22523100-22523109 chr22:22523098-22523111 chr22:22523098-22523111 chr22:22523116-22523125 chr22:22523098-22523111 chr22:22523100-22523109 chr22:22523095-22523114
10	CUX1	chr22:22521682-22523327	GM12878	blood:	n/a	chr22:22523200-22523214
11	EP300	chr22:22522025-22523288	GM12878	blood:	n/a	chr22:22523176-22523186
12	SPI1	chr22:22522506-22522731	K562	blood:	n/a	chr22:22522620-22522633 chr22:22522622-22522631
13	SP1	chr22:22522142-22522597	GM12878	blood:	n/a	n/a
14	ATF3	chr22:22522552-22523212	K562	blood:	n/a	chr22:22523116-22523125 chr22:22523100-22523109
15	USF1	chr22:22522543-22523460	K562	blood:	n/a	chr22:22523098-22523111 chr22:22523100-22523109 chr22:22523094-22523115 chr22:22523114-22523125 chr22:22523100-22523109 chr22:22523098-22523109
16	EP300	chr22:22521969-22522622	GM12878	blood:	n/a	n/a
17	TCF3	chr22:22522231-22522636	GM12878	blood:	n/a	chr22:22522354-22522363 chr22:22522351-22522366
18	CHD2	chr22:22522186-22523274	GM12878	blood:	n/a	n/a
19	POLR2A	chr22:22522165-22523262	GM12878	blood:	n/a	n/a
20	MXI1	chr22:22521702-22523306	GM12878	blood:	n/a	n/a
21	TBP	chr22:22522086-22523353	GM12878	blood:	n/a	n/a
22	POLR2A	chr22:22522332-22523283	GM12878	blood:	n/a	n/a
23	WRNIP1	chr22:22522292-22523201	GM12878	blood:	n/a	n/a
24	IRF1	chr22:22522565-22523256	K562	blood:	n/a	chr22:22522619-22522628 chr22:22522714-22522735
25	POLR2A	chr22:22522277-22523247	Raji	blood:	n/a	n/a
26	IRF1	chr22:22522546-22523424	K562	blood:	n/a	chr22:22522619-22522628 chr22:22522714-22522735
27	IRF1	chr22:22522564-22523268	K562	blood:	n/a	chr22:22522619-22522628 chr22:22522714-22522735
28	POU2F2	chr22:22522190-22523289	GM12878	blood:	n/a	n/a
29	TBL1XR1	chr22:22522121-22523248	GM12878	blood:	n/a	n/a
30	POLR2A	chr22:22522230-22523340	GM12892	blood:	n/a	n/a
31	SMC3	chr22:22522162-22523205	GM12878	blood:	n/a	n/a
32	MTA3	chr22:22522159-22523365	GM12878	blood:	n/a	n/a
33	CBX3	chr22:22522516-22523397	K562	blood:	n/a	n/a
34	EBF1	chr22:22521539-22523248	GM12878	blood:	n/a	chr22:22522240-22522250 chr22:22522239-22522250 chr22:22522238-22522251 chr22:22522240-22522249
35	POLR2A	chr22:22522147-22523337	GM12891	blood:	n/a	n/a
36	POLR2A	chr22:22522260-22523298	GM12878	blood:	n/a	n/a
37	SIN3A	chr22:22522384-22523347	GM12878	blood:	n/a	chr22:22523099-22523108
38	USF1	chr22:22522555-22523475	HCT-116	colon:	n/a	chr22:22523098-22523111 chr22:22523100-22523109 chr22:22523094-22523115 chr22:22523114-22523125 chr22:22523100-22523109 chr22:22523098-22523109
39	RUNX3	chr22:22522132-22522605	GM12878	blood:	n/a	n/a
40	USF1	chr22:22522421-22523388	K562	blood:	n/a	chr22:22523098-22523111 chr22:22523100-22523109 chr22:22523094-22523115 chr22:22523114-22523125 chr22:22523100-22523109 chr22:22523098-22523109
41	ATF2	chr22:22522066-22522590	GM12878	blood:	n/a	n/a
42	SPI1	chr22:22522410-22522801	HL-60	blood:	n/a	chr22:22522620-22522633 chr22:22522622-22522631

No.	Distal block	Cell Line	Cell type
1	chr22:22515581..22520266-chr22:22520524..22523986,6	K562	blood:
2	chr22:22511255..22511788-chr22:22522548..22523132,2	K562	blood:
3	chr22:22507386..22515452-chr22:22515920..22525466,16	K562	blood:
4	chr22:22317246..22319582-chr22:22522243..22523920,2	K562	blood:
5	chr22:22522165..22523975-chr22:22538442..22540411,2	K562	blood:

Variant related genes	Relation type
ENSG00000227710	TF binding region
ENSG00000211639	Chromatin interaction
ENSG00000233720	Chromatin interaction
ENSG00000236118	Chromatin interaction
ENSG00000236323	Chromatin interaction
ENSG00000100038	Chromatin interaction

Extended variants
information (count: 413 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs2073453	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34909021	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4443096	0.85[EUR][1000 genomes]
rs4627692	0.85[EUR][1000 genomes]
rs4820338	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs4820339	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs4821796	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs5750641	0.86[ASN][1000 genomes]
rs5750642	0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs5757096	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5757123	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5757155	0.86[YRI][hapmap]
rs5757168	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5757170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5757171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5757173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5757174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5757175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6001192	0.82[EUR][1000 genomes]
rs737842	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7410339	0.85[EUR][1000 genomes]
rs743516	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs743517	0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs743518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs743519	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306334	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9607652	0.84[CEU][hapmap]
rs9607653	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs9607654	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs9611088	0.82[EUR][1000 genomes]
rs9611126	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9611181	0.89[EUR][1000 genomes]
rs9611190	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
2	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active 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	426 gene(s)	inside rSNPs	diseases
3	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
4	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	477 gene(s)	inside rSNPs	diseases
5	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer 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 miRNA target site	474 gene(s)	inside rSNPs	diseases
6	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
7	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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 target site	64 gene(s)	inside rSNPs	diseases
9	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
11	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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 target site	145 gene(s)	inside rSNPs	diseases
12	esv2763701	chr22:22173533-22573987	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	esv2422372	chr22:22198324-22731587	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
14	esv2422362	chr22:22198357-23125553	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS 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 target site	145 gene(s)	inside rSNPs	diseases
15	esv2422446	chr22:22198357-23127963	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription 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 target site	145 gene(s)	inside rSNPs	diseases
16	esv2422223	chr22:22210933-22700941	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
17	esv2422217	chr22:22217341-23120076	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
18	esv2422394	chr22:22220046-22543157	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
19	nsv1062823	chr22:22272078-22541865	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 target site	48 gene(s)	inside rSNPs	diseases
20	esv2756316	chr22:22275642-22570417	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS 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 target site	57 gene(s)	inside rSNPs	diseases
21	nsv432177	chr22:22282776-22570446	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
22	nsv588323	chr22:22284513-22573637	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
23	nsv516394	chr22:22290403-22584255	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
24	nsv588324	chr22:22292995-22573637	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
25	nsv1060215	chr22:22292995-22573975	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
26	esv2422458	chr22:22296499-22573631	Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
27	nsv1060212	chr22:22297647-22573975	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
28	nsv1059964	chr22:22297647-22579822	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
29	nsv1065598	chr22:22297647-22597978	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
30	nsv1063502	chr22:22297716-22573431	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
31	nsv1059754	chr22:22297922-22573975	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
32	nsv1055443	chr22:22297922-22582073	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
33	esv2422343	chr22:22298025-23112582	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
34	nsv914479	chr22:22300941-22569758	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
35	nsv914480	chr22:22300941-22580314	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
36	nsv1061168	chr22:22303401-22579822	Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
37	nsv1060024	chr22:22306272-22548773	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
38	nsv1061269	chr22:22306272-22566220	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
39	nsv1060238	chr22:22306272-22583038	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
40	nsv914487	chr22:22307381-22560489	Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS 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	47 gene(s)	inside rSNPs	diseases
41	nsv914488	chr22:22307381-22562874	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
42	nsv588325	chr22:22307381-22573637	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
43	nsv914489	chr22:22307381-22573637	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
44	nsv914490	chr22:22307381-22579130	Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
45	nsv914491	chr22:22307381-22580314	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
46	nsv914492	chr22:22307381-22583252	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
47	nsv1064457	chr22:22307519-22573975	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers 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	52 gene(s)	inside rSNPs	diseases
48	nsv1060074	chr22:22307519-22579483	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
49	esv2754998	chr22:22307519-22599537	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
50	nsv432178	chr22:22307519-23222208	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5757167	IGLV4-60	cis	lung	GTEx
rs5757167	IGLV4-60	cis	Whole Blood	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22520600-22522600	Enhancers	Thymus	Thymus
2	chr22:22520800-22523200	Enhancers	Primary hematopoietic stem cells	blood
3	chr22:22521400-22523400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr22:22521600-22522600	Enhancers	Primary B cells from peripheral blood	blood
5	chr22:22521600-22523200	Flanking Active TSS	Dnd41	blood
6	chr22:22521600-22536800	Weak transcription	Right Atrium	heart
7	chr22:22522000-22522600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:22522200-22522600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr22:22522200-22522600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr22:22522200-22522600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr22:22522200-22522600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr22:22522200-22522600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr22:22522200-22522600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr22:22522200-22522600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr22:22522200-22522600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr22:22522200-22522800	Active TSS	Primary B cells from cord blood	blood
17	chr22:22522200-22523200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr22:22522200-22523200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr22:22522400-22522600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr22:22522400-22522600	Enhancers	Primary T cells from cord blood	blood
21	chr22:22522400-22522600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr22:22522400-22522600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
23	chr22:22522400-22522600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr22:22522400-22522600	Active TSS	K562	blood
25	chr22:22522400-22522800	Enhancers	Liver	Liver
26	chr22:22522400-22523000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr22:22522400-22523000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr22:22522400-22523200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:22522400-22523200	Flanking Active TSS	Fetal Thymus	thymus
30	chr22:22522400-22523200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr22:22522400-22523200	Enhancers	Spleen	Spleen
32	chr22:22522400-22523400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:22522400-22523400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr22:22522400-22523400	Active TSS	A549	lung
35	chr22:22522400-22523400	Bivalent/Poised TSS	NHEK	skin
36	chr22:22522400-22523600	Flanking Active TSS	GM12878-XiMat	blood

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