Variant report

Variant	rs7931280
Chromosome Location	chr11:4017758-4017759
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	JUN	chr11:4016528-4019019	K562	blood:	n/a	n/a
2	BHLHE40	chr11:4017224-4017840	K562	blood:	n/a	n/a
3	KAP1	chr11:4017008-4017925	HEK293	kidney:	n/a	n/a
4	KAP1	chr11:4017073-4017837	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3929305..3931209-chr11:4016785..4019728,2	K562	blood:
2	chr11:3861620..3863293-chr11:4016277..4018859,2	K562	blood:

Variant related genes	Relation type
STIM1	TF binding region
ENSG00000177105	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11821399	0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs11823158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827535	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827750	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11827795	0.88[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167562	0.90[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412336	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57282641	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57292382	1.00[EUR][1000 genomes]
rs57365434	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58151848	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58461583	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59108256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59178256	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59580400	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59842937	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59973839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60110100	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60462758	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61225070	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61355819	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61589687	0.88[AFR][1000 genomes]
rs6578420	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6578421	1.00[EUR][1000 genomes]
rs6578435	0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109227	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114373	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117657	0.81[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122796	0.85[AMR][1000 genomes]
rs7123124	0.83[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128522	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72555753	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7924332	0.90[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926343	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938706	0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938862	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939086	0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939090	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940292	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940511	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942028	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942271	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943217	0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7949898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894456	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv971974	chr11:4009259-4018790	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
2	chr11:4006800-4022600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:4009400-4020200	Weak transcription	Pancreas	Pancrea
4	chr11:4011800-4027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:4015600-4020400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:4016000-4018200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr11:4016000-4018400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:4016000-4020400	Weak transcription	Thymus	Thymus
9	chr11:4016600-4017800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:4016600-4017800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:4016600-4017800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:4016600-4018000	Enhancers	Primary T cells from cord blood	blood
13	chr11:4016600-4018000	Enhancers	Small Intestine	intestine
14	chr11:4016600-4018000	Enhancers	NHDF-Ad	bronchial
15	chr11:4016600-4018200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr11:4016600-4018400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:4016600-4018600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr11:4016600-4018800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:4016600-4018800	Enhancers	Psoas Muscle	Psoas
20	chr11:4016600-4019000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:4016600-4019000	Enhancers	K562	blood
22	chr11:4016600-4019200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr11:4016600-4019600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:4016800-4017800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:4016800-4017800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:4016800-4017800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:4016800-4017800	Enhancers	Osteobl	bone
28	chr11:4016800-4018000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr11:4016800-4018600	Enhancers	Left Ventricle	heart
30	chr11:4017000-4017800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:4017000-4017800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr11:4017200-4017800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:4017200-4017800	Enhancers	Fetal Kidney	kidney
34	chr11:4017200-4018000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:4017200-4018200	Enhancers	Adipose Nuclei	Adipose
36	chr11:4017200-4018400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:4017200-4018800	Enhancers	Fetal Stomach	stomach
38	chr11:4017200-4019400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:4017200-4019400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:4017400-4017800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:4017400-4017800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:4017400-4017800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:4017400-4017800	Enhancers	Lung	lung
44	chr11:4017400-4017800	Enhancers	Right Ventricle	heart
45	chr11:4017400-4017800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr11:4017400-4017800	Enhancers	Hela-S3	cervix
47	chr11:4017400-4017800	Flanking Active TSS	HUVEC	blood vessel
48	chr11:4017400-4018200	Enhancers	Primary hematopoietic stem cells	blood
49	chr11:4017400-4018200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr11:4017400-4018200	Enhancers	Right Atrium	heart

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