Variant report

Variant	rs4909946
Chromosome Location	chr11:10692638-10692639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10692446..10695017-chr11:10698457..10700738,2	K562	blood:
2	chr11:10691286..10695244-chr11:10695981..10700197,4	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10770129	0.84[JPT][hapmap]
rs10770130	0.89[ASN][1000 genomes]
rs10770132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840456	0.84[JPT][hapmap]
rs10840458	0.92[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs10840459	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840460	0.87[ASN][1000 genomes]
rs10840461	0.87[ASN][1000 genomes]
rs10840462	0.87[ASN][1000 genomes]
rs10840463	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10840464	0.87[ASN][1000 genomes]
rs10840465	0.87[ASN][1000 genomes]
rs10840466	0.87[ASN][1000 genomes]
rs10840467	0.87[ASN][1000 genomes]
rs10840468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042910	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11042911	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042913	0.87[ASN][1000 genomes]
rs11512010	0.87[EUR][1000 genomes]
rs12363422	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12420672	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12420675	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1390572	0.87[ASN][1000 genomes]
rs1390573	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1425149	0.87[ASN][1000 genomes]
rs1425150	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1425151	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1544862	0.87[ASN][1000 genomes]
rs1544863	0.92[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs16908157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16908159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16908162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1845832	0.87[ASN][1000 genomes]
rs1874444	0.87[ASN][1000 genomes]
rs1895712	0.87[ASN][1000 genomes]
rs2098840	0.88[ASN][1000 genomes]
rs34554801	0.98[ASN][1000 genomes]
rs35040034	0.87[ASN][1000 genomes]
rs35165550	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4243916	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910164	0.87[EUR][1000 genomes]
rs4910166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs722274	0.87[ASN][1000 genomes]
rs745336	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750540	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7925193	1.00[CEU][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7933525	0.87[ASN][1000 genomes]
rs7938027	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7939686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs881870	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs903825	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs903826	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs903827	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs903828	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2753762	chr11:10688217-10701438	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv7676	chr11:10689144-10734139	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10680600-10696200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:10688600-10695600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:10689400-10695200	Weak transcription	Brain Substantia Nigra	brain
4	chr11:10691000-10695400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:10691000-10695600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:10691000-10696000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:10691000-10696200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:10691000-10697200	Weak transcription	Stomach Mucosa	stomach
9	chr11:10691200-10695400	Weak transcription	Spleen	Spleen
10	chr11:10691400-10695400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:10691400-10695600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:10691400-10695600	Weak transcription	Left Ventricle	heart
13	chr11:10691600-10695200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:10691600-10695600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:10691600-10695600	Weak transcription	Lung	lung
16	chr11:10691600-10695800	Weak transcription	Placenta	Placenta
17	chr11:10691600-10696200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:10691800-10693000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:10691800-10695000	Weak transcription	A549	lung
20	chr11:10691800-10695200	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:10691800-10695400	Weak transcription	Osteobl	bone
22	chr11:10691800-10695600	Weak transcription	Brain Anterior Caudate	brain
23	chr11:10691800-10695600	Weak transcription	Colonic Mucosa	Colon
24	chr11:10691800-10696200	Weak transcription	Right Ventricle	heart
25	chr11:10692000-10694400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:10692000-10694600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:10692000-10694600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:10692000-10695200	Weak transcription	Adipose Nuclei	Adipose
29	chr11:10692000-10695400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:10692000-10695400	Weak transcription	Fetal Lung	lung
31	chr11:10692000-10695400	Weak transcription	Psoas Muscle	Psoas
32	chr11:10692000-10695600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:10692000-10695600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:10692000-10695600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:10692000-10695600	Weak transcription	Small Intestine	intestine
36	chr11:10692000-10695800	Weak transcription	Right Atrium	heart
37	chr11:10692000-10696000	Weak transcription	Fetal Intestine Small	intestine
38	chr11:10692000-10696200	Weak transcription	Ovary	ovary
39	chr11:10692200-10694600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:10692200-10695200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:10692200-10695400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:10692200-10695600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:10692200-10695600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:10692200-10696800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:10692200-10697000	Weak transcription	Aorta	Aorta
46	chr11:10692400-10693600	Weak transcription	NHDF-Ad	bronchial
47	chr11:10692400-10694600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:10692400-10695000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:10692400-10695000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:10692400-10695000	Weak transcription	NHLF	lung

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