Variant report

Variant	rs131690
Chromosome Location	chr22:23648009-23648010
allele	A/G
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	POLR2A	chr22:23647952-23648049	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:23647183-23649128	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr22:23647440-23648105	HL-60	blood:	n/a	n/a
4	CEBPB	chr22:23647420-23648900	IMR90	lung:	n/a	n/a
5	GATA2	chr22:23647360-23648892	HUVEC	blood vessel:	n/a	chr22:23647372-23647385
6	POLR2A	chr22:23647262-23649046	HUVEC	blood vessel:	n/a	n/a
7	RCOR1	chr22:23647259-23649080	IMR90	lung:	n/a	n/a
8	NFIC	chr22:23647941-23648640	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr22:23647986-23648185	Hela-S3	cervix:	n/a	n/a
10	REST	chr22:23647917-23648166	H1-hESC	embryonic stem cell:	n/a	chr22:23648040-23648049 chr22:23648038-23648051 chr22:23648034-23648054
11	POLR2A	chr22:23647185-23648743	U87	brain:	n/a	n/a
12	POLR2A	chr22:23647328-23648577	HUVEC	blood vessel:	n/a	n/a
13	FOS	chr22:23647322-23649029	HUVEC	blood vessel:	n/a	chr22:23647649-23647657 chr22:23647647-23647659 chr22:23647648-23647658 chr22:23647647-23647658 chr22:23647648-23647658 chr22:23647648-23647658 chr22:23647648-23647658
14	POLR2A	chr22:23647877-23649011	HUVEC	blood vessel:	n/a	n/a
15	REST	chr22:23647886-23648145	H1-hESC	embryonic stem cell:	n/a	chr22:23648040-23648049 chr22:23648038-23648051 chr22:23648034-23648054
16	POLR2A	chr22:23647107-23649160	HUVEC	blood vessel:	n/a	n/a
17	MAZ	chr22:23647137-23649235	IMR90	lung:	n/a	chr22:23647593-23647603
18	REST	chr22:23647922-23648213	PFSK-1	brain:	n/a	chr22:23648040-23648049 chr22:23648038-23648051 chr22:23648034-23648054
19	POLR2A	chr22:23647365-23648053	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr22:23647872-23648170	SK-N-SH	brain:	n/a	chr22:23648040-23648049 chr22:23648038-23648051 chr22:23648034-23648054

Variant related genes	Relation type
BCR	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs131682	0.84[ASN][1000 genomes]
rs131684	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs131686	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131691	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131693	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140507	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs180816	0.86[EUR][1000 genomes]
rs28379041	0.89[EUR][1000 genomes]
rs28405226	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers 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 miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
8	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
13	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA	83 gene(s)	inside rSNPs	diseases
14	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
15	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers 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	82 gene(s)	inside rSNPs	diseases
16	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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 target site	85 gene(s)	inside rSNPs	diseases
17	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv482557	chr22:23584948-23741799	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
19	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
20	esv2762117	chr22:23592136-23996869	Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases
21	nsv1063476	chr22:23596683-23989388	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active 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	36 gene(s)	inside rSNPs	diseases
22	nsv544617	chr22:23596683-23989388	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
23	nsv1059951	chr22:23597270-23973060	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
24	nsv1060339	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
25	nsv544618	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
26	nsv1059384	chr22:23614429-23984195	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
27	nsv544619	chr22:23614429-23984195	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active 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	34 gene(s)	inside rSNPs	diseases
28	nsv588601	chr22:23632665-23979219	Bivalent Enhancer Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS 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 target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs131690	BCR	cis	Thyroid	GTEx
rs131690	BCR	cis	lung	GTEx
rs131690	BCR	cis	Frontal Cortex	GTEx
rs131690	BCR	cis	Liver	GTEx
rs131690	BCR	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23595800-23649600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr22:23608800-23649400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:23624000-23649200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:23624400-23649400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:23624400-23649400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr22:23624400-23649400	Strong transcription	Thymus	Thymus
7	chr22:23624400-23649600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:23624400-23649600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:23624600-23648200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr22:23624600-23649000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:23624600-23649400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr22:23624800-23649400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr22:23625600-23649200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:23625800-23649400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:23632800-23657600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr22:23633000-23649400	Strong transcription	Fetal Intestine Small	intestine
17	chr22:23635200-23657600	Weak transcription	A549	lung
18	chr22:23635600-23649400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr22:23635600-23655200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr22:23635800-23657800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr22:23636000-23657400	Weak transcription	Small Intestine	intestine
22	chr22:23636600-23657600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr22:23636600-23657800	Weak transcription	Hela-S3	cervix
24	chr22:23637800-23657400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr22:23639800-23656200	Weak transcription	Fetal Kidney	kidney
26	chr22:23640200-23656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:23640200-23660200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:23641800-23649000	Strong transcription	Primary T cells from cord blood	blood
29	chr22:23642800-23650800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:23642800-23656200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr22:23643000-23648400	Weak transcription	HMEC	breast
32	chr22:23643000-23658200	Weak transcription	GM12878-XiMat	blood
33	chr22:23644200-23653800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr22:23644800-23654000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr22:23645000-23654000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr22:23645000-23659200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr22:23645200-23648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:23645200-23654000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr22:23645200-23654400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr22:23645200-23655800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr22:23645200-23656200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr22:23645600-23653800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr22:23645600-23655200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr22:23645800-23654000	Weak transcription	Fetal Intestine Large	intestine
45	chr22:23645800-23654200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:23645800-23654200	Weak transcription	Pancreas	Pancrea
47	chr22:23645800-23656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr22:23646000-23648200	Weak transcription	Colonic Mucosa	Colon
49	chr22:23646000-23655800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr22:23646000-23658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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