Variant report

Variant	rs6812635
Chromosome Location	chr4:159096725-159096726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:159096504..159097300-chr8:35345684..35346534,2	MCF-7	breast:
2	chr15:50645802..50647418-chr4:159095561..159097188,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10005007	0.93[ASN][1000 genomes]
rs10007737	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10008208	1.00[JPT][hapmap]
rs10012339	1.00[JPT][hapmap]
rs10018872	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10024133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10026876	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10028490	1.00[JPT][hapmap]
rs10517689	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100150	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11100151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11937022	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11938464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12502811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12511679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12645131	1.00[JPT][hapmap]
rs12648410	1.00[JPT][hapmap]
rs13113959	0.90[AMR][1000 genomes]
rs1320370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1320371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs14202	1.00[JPT][hapmap]
rs17036927	1.00[CEU][hapmap]
rs2346319	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2346320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346321	1.00[JPT][hapmap]
rs2346381	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346774	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2346776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346784	1.00[JPT][hapmap]
rs28499342	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28691778	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28719822	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2881373	1.00[JPT][hapmap]
rs2881473	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4234917	1.00[JPT][hapmap]
rs4317248	1.00[JPT][hapmap]
rs4324593	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4345228	1.00[JPT][hapmap]
rs4391084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4472184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4501266	1.00[JPT][hapmap]
rs4582199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4627913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4690893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4691455	1.00[JPT][hapmap]
rs4691456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4691457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4691458	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4691459	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4691461	1.00[JPT][hapmap]
rs4691462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4691463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4691464	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4691465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4691467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6536299	1.00[JPT][hapmap]
rs6813306	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6819576	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6820988	1.00[JPT][hapmap]
rs6821598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6830702	1.00[JPT][hapmap]
rs6832099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6833198	1.00[JPT][hapmap]
rs6834164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6849902	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6855420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7671094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7671501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7671934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7686997	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7695599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8180159	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8370	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers 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 miRNA target site	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	chr4:159092600-159104000	Weak transcription	Lung	lung
2	chr4:159092800-159097400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:159093800-159100000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:159094000-159097400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:159094000-159097400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:159094000-159097400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:159094200-159097200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:159094200-159097200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:159094200-159097200	Weak transcription	Psoas Muscle	Psoas
10	chr4:159094200-159097200	Weak transcription	NH-A	brain
11	chr4:159094200-159097200	Weak transcription	NHEK	skin
12	chr4:159094200-159097400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:159094200-159097400	Weak transcription	Pancreas	Pancrea
14	chr4:159094200-159097400	Weak transcription	Small Intestine	intestine
15	chr4:159094200-159099200	Weak transcription	Placenta	Placenta
16	chr4:159094400-159097200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:159094400-159097200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:159094400-159097200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:159094400-159097200	Weak transcription	HSMM	muscle
20	chr4:159094400-159097400	Weak transcription	Gastric	stomach
21	chr4:159094400-159098400	Enhancers	HMEC	breast
22	chr4:159094400-159103200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:159094600-159097600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:159094600-159098800	Enhancers	Adipose Nuclei	Adipose
25	chr4:159094600-159098800	Enhancers	Fetal Intestine Large	intestine
26	chr4:159094800-159097400	Weak transcription	Stomach Mucosa	stomach
27	chr4:159094800-159097400	Weak transcription	Osteobl	bone
28	chr4:159094800-159100000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:159095000-159097200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:159095000-159100400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:159095000-159103200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:159095200-159097200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:159095200-159097400	Weak transcription	Aorta	Aorta
34	chr4:159095200-159097400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:159095200-159097600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:159095400-159096800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:159095400-159099600	Weak transcription	Brain Substantia Nigra	brain
38	chr4:159095600-159097200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:159095600-159097200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:159095600-159097200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:159095600-159097600	Weak transcription	Brain Angular Gyrus	brain
42	chr4:159095800-159113800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:159096000-159097400	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:159096000-159097400	Enhancers	HUVEC	blood vessel
45	chr4:159096000-159097600	Weak transcription	Spleen	Spleen
46	chr4:159096200-159103200	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:159096400-159097200	Weak transcription	Ovary	ovary
48	chr4:159096400-159097400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:159096400-159097400	Weak transcription	Left Ventricle	heart
50	chr4:159096400-159097400	Weak transcription	Right Atrium	heart

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