Variant report

Variant	rs10877819
Chromosome Location	chr12:62669812-62669813
allele	A/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	FOS	chr12:62669812-62670035	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:62662341..62664001-chr12:62666915..62669884,2	K562	blood:
2	chr12:62661789..62663632-chr12:62668406..62670876,2	MCF-7	breast:
3	chr12:62669432..62672054-chr12:62682011..62684477,2	MCF-7	breast:

Variant related genes	Relation type
USP15	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10431509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10431510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10431565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10459253	0.83[ASN][1000 genomes]
rs10506440	0.84[ASN][1000 genomes]
rs10747958	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10784292	0.81[ASN][1000 genomes]
rs10877820	0.87[ASN][1000 genomes]
rs10877824	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10877826	0.84[ASN][1000 genomes]
rs10877829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10877831	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11174401	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11174404	0.82[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs11174408	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11174409	0.87[ASN][1000 genomes]
rs11174410	0.87[ASN][1000 genomes]
rs11174411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11174412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11174416	0.98[ASN][1000 genomes]
rs11174417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11174418	0.87[ASN][1000 genomes]
rs11174420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11174423	0.94[ASN][1000 genomes]
rs11174424	0.90[CHB][hapmap];0.95[ASN][1000 genomes]
rs11174428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11174431	0.84[ASN][1000 genomes]
rs11174433	0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs11174435	0.91[ASN][1000 genomes]
rs11174436	0.81[ASN][1000 genomes]
rs11174437	0.81[ASN][1000 genomes]
rs11174438	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11174449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11504121	0.95[ASN][1000 genomes]
rs11504122	0.82[ASN][1000 genomes]
rs11561463	0.95[ASN][1000 genomes]
rs11830242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11836268	0.84[ASN][1000 genomes]
rs12228015	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs12229271	0.82[ASN][1000 genomes]
rs12231778	0.93[ASN][1000 genomes]
rs12297474	0.84[ASN][1000 genomes]
rs12299072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12306066	0.83[ASN][1000 genomes]
rs12307900	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12310318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12310616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12310651	0.84[ASN][1000 genomes]
rs12311259	0.82[ASN][1000 genomes]
rs12311279	0.87[ASN][1000 genomes]
rs12315645	0.83[ASN][1000 genomes]
rs12317437	0.82[ASN][1000 genomes]
rs12318287	0.84[ASN][1000 genomes]
rs1376341	0.82[YRI][hapmap]
rs1376342	0.83[ASN][1000 genomes]
rs1496859	0.83[ASN][1000 genomes]
rs1901239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2131434	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2131435	0.87[ASN][1000 genomes]
rs2132651	0.83[ASN][1000 genomes]
rs2242032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28526400	0.84[ASN][1000 genomes]
rs35634758	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3803106	0.87[ASN][1000 genomes]
rs6581444	0.83[ASN][1000 genomes]
rs67044039	0.87[ASN][1000 genomes]
rs67853252	0.87[ASN][1000 genomes]
rs7132814	0.91[ASN][1000 genomes]
rs7133294	0.83[ASN][1000 genomes]
rs7137068	0.95[ASN][1000 genomes]
rs7295013	0.87[ASN][1000 genomes]
rs7298827	0.87[ASN][1000 genomes]
rs7300928	0.87[ASN][1000 genomes]
rs7302033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7302617	0.95[ASN][1000 genomes]
rs7953967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7965326	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7974973	0.83[ASN][1000 genomes]
rs7976058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs902971	0.84[ASN][1000 genomes]

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	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62655400-62685600	Weak transcription	HSMM	muscle
2	chr12:62656400-62679400	Weak transcription	Brain Anterior Caudate	brain
3	chr12:62656600-62685600	Weak transcription	Aorta	Aorta
4	chr12:62656600-62685600	Weak transcription	Pancreas	Pancrea
5	chr12:62656800-62675400	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:62658400-62671200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:62658400-62671400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:62659000-62671800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:62659400-62671400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:62661400-62673600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:62661600-62676000	Weak transcription	Fetal Thymus	thymus
12	chr12:62661600-62682800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:62662200-62676000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:62663000-62685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:62663200-62670800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:62663200-62671600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:62663200-62684800	Weak transcription	NHEK	skin
18	chr12:62663400-62685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:62663800-62671200	Enhancers	Fetal Heart	heart
20	chr12:62663800-62671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:62664400-62673000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:62664400-62685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:62664800-62671600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:62664800-62676200	Weak transcription	Hela-S3	cervix
25	chr12:62665000-62688000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:62665600-62674400	Weak transcription	Brain Substantia Nigra	brain
27	chr12:62665600-62674400	Weak transcription	Dnd41	blood
28	chr12:62665600-62675600	Weak transcription	Primary B cells from cord blood	blood
29	chr12:62665800-62679000	Weak transcription	Fetal Lung	lung
30	chr12:62666800-62678200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:62666800-62681600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr12:62667200-62671600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:62667200-62677000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:62667200-62682200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:62667400-62670200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr12:62667800-62670000	Enhancers	Primary T cells from cord blood	blood
37	chr12:62667800-62672000	Enhancers	Primary hematopoietic stem cells	blood
38	chr12:62667800-62676400	Weak transcription	A549	lung
39	chr12:62667800-62689000	Weak transcription	HSMMtube	muscle
40	chr12:62668200-62670800	Weak transcription	Stomach Mucosa	stomach
41	chr12:62668400-62674200	Weak transcription	Psoas Muscle	Psoas
42	chr12:62668400-62675200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:62668400-62675200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:62668400-62675200	Weak transcription	Left Ventricle	heart
45	chr12:62668400-62679200	Weak transcription	Fetal Brain Male	brain
46	chr12:62668400-62682000	Weak transcription	NHLF	lung
47	chr12:62668600-62671200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:62668800-62670200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:62668800-62672200	Weak transcription	Fetal Brain Female	brain
50	chr12:62668800-62674400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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