Variant report

Variant	rs4961195
Chromosome Location	chr8:87501554-87501555
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87493659..87498581-chr8:87498622..87502865,4	MCF-7	breast:
2	chr8:87495268..87498918-chr8:87499043..87502704,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250569	Chromatin interaction
ENSG00000085719	Chromatin interaction
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10086340	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10087788	0.87[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10093238	0.81[JPT][hapmap]
rs10095129	0.81[JPT][hapmap]
rs10095498	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10096443	0.81[JPT][hapmap]
rs10097450	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10098356	0.85[ASN][1000 genomes]
rs10102229	0.93[ASN][1000 genomes]
rs1016102	0.87[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10481197	0.87[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs10956830	0.80[ASN][1000 genomes]
rs10956873	0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1135451	0.92[ASN][1000 genomes]
rs11539113	1.00[ASN][1000 genomes]
rs11775728	0.81[JPT][hapmap]
rs11992656	0.87[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11992955	0.92[ASN][1000 genomes]
rs12541793	0.91[ASN][1000 genomes]
rs12543544	0.88[ASN][1000 genomes]
rs12544463	0.92[ASN][1000 genomes]
rs12546802	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12550142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12678720	0.90[ASN][1000 genomes]
rs12678772	0.90[ASN][1000 genomes]
rs12679811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13042	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13249177	1.00[ASN][1000 genomes]
rs13249753	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13251006	0.91[ASN][1000 genomes]
rs13252046	0.91[ASN][1000 genomes]
rs13253261	0.91[ASN][1000 genomes]
rs13253296	0.90[ASN][1000 genomes]
rs13253515	0.91[ASN][1000 genomes]
rs13256765	0.90[ASN][1000 genomes]
rs13257414	1.00[ASN][1000 genomes]
rs13258126	0.90[ASN][1000 genomes]
rs13260345	0.92[ASN][1000 genomes]
rs13261901	0.91[ASN][1000 genomes]
rs13261956	0.85[ASN][1000 genomes]
rs13264021	1.00[ASN][1000 genomes]
rs13264364	0.91[ASN][1000 genomes]
rs13267782	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13267858	1.00[ASN][1000 genomes]
rs13269259	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13270090	0.93[ASN][1000 genomes]
rs13272148	0.92[ASN][1000 genomes]
rs13273338	0.90[ASN][1000 genomes]
rs13279589	0.91[ASN][1000 genomes]
rs13279850	0.92[ASN][1000 genomes]
rs13281414	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13282351	0.93[ASN][1000 genomes]
rs28378899	0.80[ASN][1000 genomes]
rs2953517	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs2976178	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2976201	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs3213912	0.87[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs34219490	1.00[ASN][1000 genomes]
rs34227066	0.90[ASN][1000 genomes]
rs34367154	1.00[ASN][1000 genomes]
rs34596274	0.97[ASN][1000 genomes]
rs34794500	0.90[ASN][1000 genomes]
rs35418161	1.00[ASN][1000 genomes]
rs35471529	1.00[ASN][1000 genomes]
rs35592191	0.85[ASN][1000 genomes]
rs35871312	0.93[ASN][1000 genomes]
rs36081104	1.00[ASN][1000 genomes]
rs3779806	0.87[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs3779808	0.87[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4129535	0.87[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4490816	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4587306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4961188	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4961193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4961194	0.81[JPT][hapmap]
rs4961197	1.00[ASN][1000 genomes]
rs56752411	0.99[ASN][1000 genomes]
rs60982560	1.00[ASN][1000 genomes]
rs61106663	0.91[ASN][1000 genomes]
rs6415565	0.81[JPT][hapmap]
rs6471296	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6471309	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6471354	0.80[JPT][hapmap]
rs6471360	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6651267	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6651269	0.94[ASN][1000 genomes]
rs66808088	0.99[ASN][1000 genomes]
rs67123356	0.90[ASN][1000 genomes]
rs68008113	1.00[ASN][1000 genomes]
rs6985066	0.87[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs6996052	0.81[JPT][hapmap]
rs6998303	0.99[ASN][1000 genomes]
rs7003059	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7006017	0.81[JPT][hapmap]
rs7006629	0.81[JPT][hapmap]
rs7007055	0.94[ASN][1000 genomes]
rs7007855	0.80[ASN][1000 genomes]
rs7015490	0.81[JPT][hapmap]
rs7017706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7017716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7017719	0.81[JPT][hapmap]
rs72606633	0.91[ASN][1000 genomes]
rs7459877	1.00[ASN][1000 genomes]
rs7460286	0.81[JPT][hapmap]
rs7460342	0.91[ASN][1000 genomes]
rs7460439	0.81[JPT][hapmap]
rs7460650	0.91[ASN][1000 genomes]
rs7461366	1.00[ASN][1000 genomes]
rs7461413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7461668	0.89[ASN][1000 genomes]
rs7462883	0.93[ASN][1000 genomes]
rs7465511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7820234	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7820697	0.81[JPT][hapmap]
rs7832493	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7833049	0.90[ASN][1000 genomes]
rs7837569	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7839601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7842042	0.91[ASN][1000 genomes]
rs7846090	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8635	0.91[ASN][1000 genomes]
rs9297921	0.92[ASN][1000 genomes]
rs9297922	0.87[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs9297923	0.87[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs9942792	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9942793	1.00[ASN][1000 genomes]
rs9942823	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[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	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv968514	chr8:87495999-87514855	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4961195	RMDN1	cis	Whole Blood	GTEx
rs4961195	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs4961195	FAM82B	cis	lesional skin	skin_eQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
5	chr8:87481800-87507400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:87481800-87507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:87481800-87507600	Weak transcription	Esophagus	oesophagus
8	chr8:87482000-87507600	Weak transcription	Fetal Brain Male	brain
9	chr8:87482000-87508200	Weak transcription	Fetal Heart	heart
10	chr8:87482000-87508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:87482200-87507600	Weak transcription	Colonic Mucosa	Colon
12	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:87482800-87503400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:87482800-87506600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:87482800-87519600	Weak transcription	HUVEC	blood vessel
16	chr8:87483000-87508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:87483200-87505400	Weak transcription	Hela-S3	cervix
18	chr8:87487600-87507400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:87488200-87507400	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:87488200-87507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:87488400-87519800	Weak transcription	Psoas Muscle	Psoas
22	chr8:87488800-87505400	Weak transcription	Stomach Mucosa	stomach
23	chr8:87490400-87507400	Weak transcription	HSMMtube	muscle
24	chr8:87491200-87507600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:87493800-87508000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:87494200-87519800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:87495200-87506200	Weak transcription	Left Ventricle	heart
28	chr8:87495200-87506400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:87495200-87506800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:87495200-87506800	Weak transcription	Fetal Brain Female	brain
31	chr8:87495200-87507200	Weak transcription	Pancreas	Pancrea
32	chr8:87495200-87507400	Weak transcription	Aorta	Aorta
33	chr8:87495200-87507600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:87495400-87506400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:87495400-87507400	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:87495600-87507600	Weak transcription	HepG2	liver
37	chr8:87495800-87507600	Weak transcription	K562	blood
38	chr8:87496600-87506600	Weak transcription	Lung	lung
39	chr8:87496600-87507400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:87496600-87507600	Weak transcription	Brain Substantia Nigra	brain
41	chr8:87496600-87507800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:87496600-87515800	Weak transcription	NHLF	lung
43	chr8:87496800-87504600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr8:87496800-87505600	Weak transcription	HMEC	breast
45	chr8:87496800-87506600	Weak transcription	Thymus	Thymus
46	chr8:87496800-87507400	Weak transcription	Ovary	ovary
47	chr8:87496800-87507800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:87496800-87507800	Weak transcription	Spleen	Spleen
49	chr8:87497000-87506200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:87497000-87516000	Weak transcription	Gastric	stomach

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