Variant report

Variant	rs2920137
Chromosome Location	chr11:4079318-4079319
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	SPI1	chr11:4079247-4079676	GM12891	blood:	n/a	n/a
2	NFYB	chr11:4079226-4079765	GM12878	blood:	n/a	n/a
3	SPI1	chr11:4079278-4079448	GM12878	blood:	n/a	n/a
4	BATF	chr11:4079296-4079683	GM12878	blood:	n/a	n/a
5	FOS	chr11:4079312-4079658	MCF10A-Er-Src	breast:	n/a	chr11:4079479-4079490
6	EBF1	chr11:4079067-4079785	GM12878	blood:	n/a	n/a
7	NFATC1	chr11:4079093-4079823	GM12878	blood:	n/a	n/a
8	PML	chr11:4079000-4079921	GM12878	blood:	n/a	chr11:4079865-4079873 chr11:4079369-4079377
9	CHD1	chr11:4079175-4079706	GM12878	blood:	n/a	n/a
10	ATF2	chr11:4079047-4079839	GM12878	blood:	n/a	n/a
11	EP300	chr11:4079184-4079651	GM12878	blood:	n/a	chr11:4079595-4079604
12	MAX	chr11:4079114-4079784	NB4	blood:	n/a	n/a
13	KAP1	chr11:4079238-4079776	HEK293	kidney:	n/a	chr11:4079369-4079377
14	POLR2A	chr11:4079258-4081361	K562	blood:	n/a	n/a
15	EBF1	chr11:4079243-4079632	GM12878	blood:	n/a	n/a
16	PBX3	chr11:4079310-4079855	SK-N-SH	brain:	n/a	n/a
17	RUNX3	chr11:4079023-4079756	GM12878	blood:	n/a	n/a
18	BRCA1	chr11:4079242-4079563	GM12878	blood:	n/a	n/a
19	IRF4	chr11:4078999-4079702	GM12878	blood:	n/a	n/a
20	JUND	chr11:4079309-4079664	K562	blood:	n/a	n/a
21	EBF1	chr11:4079260-4079632	GM12878	blood:	n/a	n/a
22	JUND	chr11:4079101-4079740	SK-N-SH	brain:	n/a	n/a
23	MAFK	chr11:4079220-4079449	IMR90	lung:	n/a	n/a
24	BHLHE40	chr11:4079069-4079965	GM12878	blood:	n/a	n/a
25	RUNX3	chr11:4079315-4079725	GM12878	blood:	n/a	n/a
26	SP1	chr11:4079068-4079728	GM12878	blood:	n/a	n/a
27	TBL1XR1	chr11:4079129-4079625	GM12878	blood:	n/a	n/a
28	EP300	chr11:4079027-4079681	GM12878	blood:	n/a	chr11:4079595-4079604
29	BATF	chr11:4078994-4079679	GM12878	blood:	n/a	n/a
30	SPI1	chr11:4079143-4079751	HL-60	blood:	n/a	n/a
31	JUN	chr11:4079317-4079695	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr11:4079083-4079839	GM12891	blood:	n/a	n/a
33	ZNF384	chr11:4078945-4079623	GM12878	blood:	n/a	n/a
34	RCOR1	chr11:4079099-4079607	GM12878	blood:	n/a	n/a
35	FOS	chr11:4079207-4079737	HUVEC	blood vessel:	n/a	chr11:4079479-4079490
36	MTA3	chr11:4079001-4079746	GM12878	blood:	n/a	n/a
37	FOXM1	chr11:4079178-4079781	GM12878	blood:	n/a	n/a
38	NFIC	chr11:4079010-4079787	GM12878	blood:	n/a	n/a
39	CREB1	chr11:4079057-4079835	GM12878	blood:	n/a	n/a
40	SPI1	chr11:4079292-4079724	GM12878	blood:	n/a	n/a
41	IRF4	chr11:4079002-4079685	GM12878	blood:	n/a	n/a
42	SPI1	chr11:4079289-4079602	HL-60	blood:	n/a	n/a
43	CUX1	chr11:4079233-4079914	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:4079068-4079799	GM12892	blood:	n/a	n/a
45	POU2F2	chr11:4079049-4079625	GM12878	blood:	n/a	n/a
46	KAP1	chr11:4079220-4079733	U2OS	brain:	n/a	chr11:4079369-4079377
47	TBP	chr11:4079135-4079772	GM12878	blood:	n/a	n/a
48	CREB1	chr11:4079031-4079872	GM12878	blood:	n/a	n/a
49	BCLAF1	chr11:4078993-4079434	GM12878	blood:	n/a	n/a
50	SPI1	chr11:4079252-4079653	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
STIM1	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10742229	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030814	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602757	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1442725	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465952	0.93[ASW][hapmap];0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2060822	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2289570	0.93[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412341	0.86[CHB][hapmap]
rs2898950	0.93[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920140	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920141	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920142	0.87[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923946	0.90[GIH][hapmap]
rs2923947	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2923951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2923952	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2923954	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959060	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959064	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959067	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2959069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959071	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959072	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959076	0.85[CHB][hapmap]
rs2959080	0.90[GIH][hapmap]
rs35695744	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794051	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794052	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910595	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910881	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910883	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs7104462	0.93[AFR][1000 genomes]
rs7109811	0.88[AMR][1000 genomes]
rs727152	0.90[GIH][hapmap]
rs7924858	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927493	0.85[EUR][1000 genomes]
rs7930739	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938946	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7940635	0.81[EUR][1000 genomes]
rs7945918	0.93[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894455	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9735835	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9988893	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4051000-4080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:4062000-4080400	Weak transcription	Spleen	Spleen
3	chr11:4066200-4104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:4066400-4107800	Weak transcription	Small Intestine	intestine
5	chr11:4066600-4080200	Weak transcription	Right Ventricle	heart
6	chr11:4066600-4080400	Weak transcription	Fetal Lung	lung
7	chr11:4066600-4080400	Weak transcription	Gastric	stomach
8	chr11:4066600-4085800	Weak transcription	Pancreas	Pancrea
9	chr11:4067000-4087400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:4067800-4080400	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:4067800-4080600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:4067800-4093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:4068000-4079400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:4068000-4080200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:4068000-4080200	Weak transcription	Psoas Muscle	Psoas
16	chr11:4070800-4108600	Weak transcription	HSMM	muscle
17	chr11:4071000-4083600	Weak transcription	Fetal Brain Male	brain
18	chr11:4071600-4080400	Weak transcription	Aorta	Aorta
19	chr11:4071800-4080600	Weak transcription	Colonic Mucosa	Colon
20	chr11:4073000-4093200	Weak transcription	Fetal Intestine Small	intestine
21	chr11:4075800-4083200	Strong transcription	Primary T cells from cord blood	blood
22	chr11:4076000-4080600	Weak transcription	HSMMtube	muscle
23	chr11:4076000-4087000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:4076200-4081600	Weak transcription	A549	lung
25	chr11:4076200-4103000	Weak transcription	Fetal Intestine Large	intestine
26	chr11:4076600-4085200	Strong transcription	Dnd41	blood
27	chr11:4076800-4081400	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:4076800-4082600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr11:4076800-4082600	Strong transcription	Thymus	Thymus
30	chr11:4076800-4083200	Strong transcription	Liver	Liver
31	chr11:4077200-4080600	Weak transcription	Brain Angular Gyrus	brain
32	chr11:4077400-4080400	Weak transcription	HepG2	liver
33	chr11:4077600-4079800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:4077600-4080200	Genic enhancers	Monocytes-CD14+_RO01746	blood
35	chr11:4077800-4079400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:4077800-4079600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:4077800-4079800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:4078000-4079400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:4078000-4079400	Weak transcription	Ovary	ovary
40	chr11:4078000-4080200	Weak transcription	Esophagus	oesophagus
41	chr11:4078000-4080400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:4078000-4080400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:4078000-4080400	Weak transcription	Left Ventricle	heart
44	chr11:4078000-4080600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:4078000-4080600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:4078000-4093200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:4078200-4080200	Enhancers	Primary hematopoietic stem cells	blood
48	chr11:4078200-4080600	Weak transcription	Brain Anterior Caudate	brain
49	chr11:4078400-4079400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:4078400-4079400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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