Variant report

Variant	rs7114373
Chromosome Location	chr11:4077463-4077464
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	POLR2A	chr11:4077427-4077940	K562	blood:	n/a	n/a

Variant related genes	Relation type
STIM1	TF binding region

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

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

rs_ID	r²[population]
rs11821399	0.85[AMR][1000 genomes]
rs11823158	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827535	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827750	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11827795	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167562	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412336	0.82[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	0.93[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	0.89[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	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59973839	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60110100	0.92[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	0.87[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	0.81[AFR][1000 genomes]
rs6578420	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6578421	1.00[EUR][1000 genomes]
rs6578435	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109227	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122796	0.85[AMR][1000 genomes]
rs7123124	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128522	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72555753	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7924332	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926343	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7931280	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938706	0.86[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	0.86[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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940511	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942028	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942271	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943217	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7949898	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894456	0.81[AFR][1000 genomes];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	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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