Variant report

Variant	rs4881394
Chromosome Location	chr10:5113711-5113712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5111978..5114211-chr10:5116578..5119006,2	MCF-7	breast:
2	chr10:5112556..5115410-chr10:5118342..5122673,4	K562	blood:
3	chr10:5112364..5115030-chr10:5137295..5139055,2	K562	blood:
4	chr10:5113654..5115809-chr10:5119275..5121684,2	MCF-7	breast:
5	chr10:5012978..5016166-chr10:5111425..5114136,3	K562	blood:
6	chr10:5110976..5115702-chr10:5115793..5122715,9	K562	blood:

Variant related genes	Relation type
ENSG00000196139	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10795234	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10795241	0.99[ASN][1000 genomes]
rs10904400	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10904402	0.81[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs10904403	0.97[ASN][1000 genomes]
rs10904406	0.92[ASN][1000 genomes]
rs11492950	0.90[ASN][1000 genomes]
rs11511653	0.90[ASN][1000 genomes]
rs11599072	0.96[ASN][1000 genomes]
rs11817416	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2096422	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2398187	0.90[ASN][1000 genomes]
rs2398190	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2398191	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2398192	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143631	0.85[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs4525119	0.86[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.90[ASN][1000 genomes]
rs4880701	0.85[ASN][1000 genomes]
rs4880702	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4881379	0.87[ASN][1000 genomes]
rs4881383	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4881386	0.92[ASN][1000 genomes]
rs4881387	0.92[ASN][1000 genomes]
rs4881388	0.92[ASN][1000 genomes]
rs6601893	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7074522	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7080470	0.90[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.91[ASN][1000 genomes]
rs7088426	0.90[ASN][1000 genomes]
rs7096045	0.88[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7899089	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7915896	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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 target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1036566	chr10:5037926-5261426	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv549883	chr10:5037926-5275762	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv1036667	chr10:5076258-5133621	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv1047484	chr10:5076258-5261482	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv1042487	chr10:5090313-5196900	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv540463	chr10:5090313-5196900	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv971844	chr10:5103769-5124214	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
24	nsv540464	chr10:5108345-5196815	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv540465	chr10:5108345-5261482	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5095400-5120800	Weak transcription	Right Atrium	heart
2	chr10:5111800-5116200	Enhancers	Fetal Intestine Large	intestine
3	chr10:5112000-5115200	Enhancers	Adipose Nuclei	Adipose
4	chr10:5112200-5114000	Enhancers	Ovary	ovary
5	chr10:5112400-5113800	Enhancers	Psoas Muscle	Psoas
6	chr10:5112600-5114000	Flanking Active TSS	HepG2	liver
7	chr10:5112800-5113800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:5112800-5113800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr10:5112800-5113800	Flanking Active TSS	NHDF-Ad	bronchial
10	chr10:5112800-5114600	Enhancers	HMEC	breast
11	chr10:5112800-5115000	Enhancers	Stomach Mucosa	stomach
12	chr10:5113000-5114000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:5113000-5114000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr10:5113000-5114200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:5113000-5114400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:5113000-5114600	Enhancers	Fetal Kidney	kidney
17	chr10:5113000-5114600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr10:5113000-5114600	Enhancers	NHEK	skin
19	chr10:5113000-5114800	Enhancers	Colon Smooth Muscle	Colon
20	chr10:5113000-5114800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr10:5113000-5115000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:5113000-5115200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:5113200-5113800	Enhancers	Stomach Smooth Muscle	stomach
24	chr10:5113200-5113800	Flanking Active TSS	HSMMtube	muscle
25	chr10:5113200-5114000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr10:5113200-5114200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr10:5113200-5114400	Enhancers	Brain Hippocampus Middle	brain
28	chr10:5113200-5114400	Enhancers	HSMM	muscle
29	chr10:5113200-5114600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:5113200-5114600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:5113200-5114600	Enhancers	Rectal Smooth Muscle	rectum
32	chr10:5113200-5114800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr10:5113200-5115000	Enhancers	Brain Anterior Caudate	brain
34	chr10:5113200-5121000	Weak transcription	Gastric	stomach
35	chr10:5113400-5113800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:5113400-5113800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:5113400-5113800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:5113400-5113800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:5113400-5113800	Enhancers	Aorta	Aorta
40	chr10:5113400-5113800	Enhancers	Fetal Stomach	stomach
41	chr10:5113400-5113800	Flanking Active TSS	Left Ventricle	heart
42	chr10:5113400-5113800	Transcr. at gene 5' and 3'	K562	blood
43	chr10:5113400-5113800	Flanking Active TSS	NHLF	lung
44	chr10:5113400-5114000	Flanking Active TSS	Liver	Liver
45	chr10:5113400-5114200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr10:5113400-5114200	Enhancers	Fetal Muscle Leg	muscle
47	chr10:5113400-5114200	Enhancers	Placenta	Placenta
48	chr10:5113400-5114400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:5113400-5114400	Flanking Active TSS	Hela-S3	cervix
50	chr10:5113400-5114400	Enhancers	HUVEC	blood vessel

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