Variant report

Variant	rs7463876
Chromosome Location	chr8:1704476-1704477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1704279..1706282-chr8:1706404..1709103,2	MCF-7	breast:
2	chr8:1702392..1708895-chr8:1709221..1714010,17	MCF-7	breast:
3	chr8:1681796..1686732-chr8:1704250..1709938,6	K562	blood:

Variant related genes	Relation type
ENSG00000182372	Chromatin interaction
ENSG00000253982	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10087654	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10095548	0.83[ASN][1000 genomes]
rs10095696	0.83[ASN][1000 genomes]
rs10097891	0.85[ASN][1000 genomes]
rs10100341	0.85[ASN][1000 genomes]
rs10102731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10105317	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10106153	0.94[ASN][1000 genomes]
rs10109098	0.84[ASN][1000 genomes]
rs10113471	0.89[ASN][1000 genomes]
rs10481354	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11136421	0.88[ASN][1000 genomes]
rs11136422	0.90[ASN][1000 genomes]
rs11136424	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11778824	0.83[ASN][1000 genomes]
rs12335115	0.92[ASN][1000 genomes]
rs12335117	0.81[ASN][1000 genomes]
rs12674711	0.92[ASN][1000 genomes]
rs13251071	0.88[ASN][1000 genomes]
rs13256424	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13261755	0.89[ASN][1000 genomes]
rs13282161	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13540	0.95[ASN][1000 genomes]
rs2293977	0.92[ASN][1000 genomes]
rs28376731	0.95[ASN][1000 genomes]
rs2957085	0.88[ASN][1000 genomes]
rs2977197	0.87[ASN][1000 genomes]
rs35062922	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3812477	0.84[ASN][1000 genomes]
rs4242538	0.89[ASN][1000 genomes]
rs4370560	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4372027	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4595147	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4639549	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4875806	0.91[ASN][1000 genomes]
rs4875889	0.89[ASN][1000 genomes]
rs4875957	0.91[ASN][1000 genomes]
rs4875958	0.89[ASN][1000 genomes]
rs4876133	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6558518	0.92[ASN][1000 genomes]
rs6558520	0.93[ASN][1000 genomes]
rs6558521	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6558522	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6558523	0.94[ASN][1000 genomes]
rs6558524	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6558525	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6558526	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6558527	0.94[ASN][1000 genomes]
rs6558528	0.92[ASN][1000 genomes]
rs6558530	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6558531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6558532	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6558533	0.96[ASN][1000 genomes]
rs6558534	0.97[ASN][1000 genomes]
rs6558535	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6981804	0.94[ASN][1000 genomes]
rs6982516	0.93[ASN][1000 genomes]
rs6984632	0.92[ASN][1000 genomes]
rs6986102	0.93[ASN][1000 genomes]
rs6991773	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6991783	0.85[ASN][1000 genomes]
rs6993706	0.91[ASN][1000 genomes]
rs7000162	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7001282	0.94[ASN][1000 genomes]
rs7005592	0.94[ASN][1000 genomes]
rs7005699	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7008465	0.84[ASN][1000 genomes]
rs7014327	0.85[ASN][1000 genomes]
rs7014823	0.85[ASN][1000 genomes]
rs7015858	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71499040	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs730377	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs730379	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7341635	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7459507	0.92[ASN][1000 genomes]
rs7460230	0.91[ASN][1000 genomes]
rs7460287	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7460365	0.93[ASN][1000 genomes]
rs7460866	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7460972	0.99[ASN][1000 genomes]
rs7461159	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7461259	0.89[ASN][1000 genomes]
rs7461600	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7463879	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7465178	0.90[ASN][1000 genomes]
rs7818406	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7822816	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7827009	0.84[ASN][1000 genomes]
rs7827285	0.84[ASN][1000 genomes]
rs7828950	1.00[ASN][1000 genomes]
rs7838456	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842425	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844748	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7846610	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9022	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv934075	chr8:1626857-1736355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1034490	chr8:1654716-1782467	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv609527	chr8:1681733-1753497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
13	nsv870096	chr8:1682851-1767342	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv465274	chr8:1685064-1728292	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv609528	chr8:1685064-1728292	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv532892	chr8:1687433-1839578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	esv2755149	chr8:1689290-1755281	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
18	nsv465275	chr8:1697086-1768004	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
19	nsv609529	chr8:1697086-1768004	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
20	nsv465276	chr8:1701432-1777571	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
21	nsv609530	chr8:1701432-1777571	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7463876	CTD-2336O2.1	cis	Esophagus Muscularis	GTEx
rs7463876	CTD-2336O2.1	cis	Nerve Tibial	GTEx
rs7463876	CTD-2336O2.1	cis	Adipose Subcutaneous	GTEx
rs7463876	CTD-2336O2.1	cis	Muscle Skeletal	GTEx
rs7463876	CTD-2336O2.1	cis	Thyroid	GTEx
rs7463876	CTD-2336O2.1	cis	Artery Tibial	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1692600-1707400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:1700200-1708200	Weak transcription	Pancreas	Pancrea
3	chr8:1702800-1705600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:1703600-1704600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:1703600-1704800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:1703800-1704600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:1703800-1704600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:1703800-1704800	Active TSS	HMEC	breast
9	chr8:1703800-1704800	Active TSS	NHEK	skin
10	chr8:1703800-1705000	Active TSS	A549	lung
11	chr8:1703800-1705200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:1703800-1705400	Active TSS	K562	blood
13	chr8:1703800-1706600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:1704000-1704600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:1704000-1705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:1704000-1706600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:1704000-1707800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:1704000-1708600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:1704000-1710800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:1704200-1704600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:1704200-1704600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:1704200-1706400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:1704200-1706800	Weak transcription	Fetal Kidney	kidney
24	chr8:1704200-1707600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:1704200-1707600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:1704200-1707600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:1704200-1707600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:1704200-1707600	Weak transcription	Thymus	Thymus
29	chr8:1704200-1707800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:1704200-1708000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:1704200-1708200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:1704200-1708600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:1704200-1710600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:1704200-1710600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:1704200-1710600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:1704400-1704600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:1704400-1704600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr8:1704400-1704600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:1704400-1704600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr8:1704400-1704600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:1704400-1704600	Active TSS	Hela-S3	cervix
42	chr8:1704400-1704600	Active TSS	NHLF	lung
43	chr8:1704400-1704800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:1704400-1705000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:1704400-1705400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:1704400-1705400	Weak transcription	Placenta	Placenta
47	chr8:1704400-1705400	Enhancers	HSMMtube	muscle
48	chr8:1704400-1705600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr8:1704400-1705800	Enhancers	NHDF-Ad	bronchial
50	chr8:1704400-1706000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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