Variant report

Variant	rs1372803
Chromosome Location	chr11:4077492-4077493
allele	G/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	POLR2A	chr11:4077427-4077940	K562	blood:	n/a	n/a

Variant related genes	Relation type
STIM1	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10430939	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs10458900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10500591	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs10500592	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10500593	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11030251	0.83[ASN][1000 genomes]
rs11030286	0.84[ASN][1000 genomes]
rs11030326	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11030327	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs11030366	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs11030417	0.84[ASN][1000 genomes]
rs11030418	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs11030453	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11030478	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs11030479	0.87[ASN][1000 genomes]
rs11030481	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs11030484	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs11030485	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs11030486	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs11030697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11030796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11525342	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11529865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12222250	0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs12224469	0.80[ASN][1000 genomes]
rs16929410	0.94[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16929438	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929467	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16929492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16929529	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs16929531	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs16929538	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs16929540	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs16929542	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs16929546	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs16929611	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs16929616	0.82[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs16929653	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs1822286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1899478	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2167563	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs2284449	0.82[CHB][hapmap]
rs3750994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55679086	0.87[ASN][1000 genomes]
rs55978228	0.87[ASN][1000 genomes]
rs56126231	0.84[ASN][1000 genomes]
rs56140937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59195871	0.81[ASN][1000 genomes]
rs59242983	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61897162	0.82[ASN][1000 genomes]
rs61897163	0.84[ASN][1000 genomes]
rs61897164	0.84[ASN][1000 genomes]
rs61897166	0.85[ASN][1000 genomes]
rs61897167	0.82[ASN][1000 genomes]
rs61897170	0.85[ASN][1000 genomes]
rs61897171	0.85[ASN][1000 genomes]
rs61897194	0.85[ASN][1000 genomes]
rs61897195	0.84[ASN][1000 genomes]
rs61897201	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61897202	0.87[ASN][1000 genomes]
rs61897206	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897234	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61897237	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61897254	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61899662	0.81[AMR][1000 genomes]
rs6578423	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs720106	0.82[CHB][hapmap]
rs723779	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs72851736	0.87[ASN][1000 genomes]
rs750526	0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs7928117	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs7934581	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7941743	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs894454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4048000-4077600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:4048600-4077800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:4051000-4080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:4062000-4080400	Weak transcription	Spleen	Spleen
5	chr11:4066000-4079200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:4066200-4078400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:4066200-4079000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:4066200-4079200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:4066200-4104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:4066400-4077600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:4066400-4107800	Weak transcription	Small Intestine	intestine
12	chr11:4066600-4077600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:4066600-4077600	Weak transcription	Left Ventricle	heart
14	chr11:4066600-4078400	Weak transcription	NHDF-Ad	bronchial
15	chr11:4066600-4078600	Weak transcription	K562	blood
16	chr11:4066600-4078600	Weak transcription	Osteobl	bone
17	chr11:4066600-4080200	Weak transcription	Right Ventricle	heart
18	chr11:4066600-4080400	Weak transcription	Fetal Lung	lung
19	chr11:4066600-4080400	Weak transcription	Gastric	stomach
20	chr11:4066600-4085800	Weak transcription	Pancreas	Pancrea
21	chr11:4066800-4078400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:4067000-4079200	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:4067000-4087400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:4067800-4079200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:4067800-4080400	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:4067800-4080600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:4067800-4093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:4068000-4077600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:4068000-4079000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:4068000-4079200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:4068000-4079400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:4068000-4080200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:4068000-4080200	Weak transcription	Psoas Muscle	Psoas
34	chr11:4068200-4077800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:4068200-4078400	Weak transcription	NHEK	skin
36	chr11:4068200-4079000	Weak transcription	HUVEC	blood vessel
37	chr11:4068600-4078600	Weak transcription	HMEC	breast
38	chr11:4068800-4078200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:4070800-4108600	Weak transcription	HSMM	muscle
40	chr11:4071000-4083600	Weak transcription	Fetal Brain Male	brain
41	chr11:4071600-4078200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:4071600-4080400	Weak transcription	Aorta	Aorta
43	chr11:4071800-4080600	Weak transcription	Colonic Mucosa	Colon
44	chr11:4073000-4093200	Weak transcription	Fetal Intestine Small	intestine
45	chr11:4075800-4077600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:4075800-4078400	Strong transcription	Primary B cells from cord blood	blood
47	chr11:4075800-4078600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:4075800-4083200	Strong transcription	Primary T cells from cord blood	blood
49	chr11:4076000-4077600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:4076000-4078600	Weak transcription	Placenta	Placenta

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