Variant report

Variant	rs6982516
Chromosome Location	chr8:1716047-1716048
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	chr8:1693361..1695232-chr8:1714605..1717570,2	MCF-7	breast:
2	chr8:1715604..1719309-chr8:1719775..1722697,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182372	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10087654	0.93[ASN][1000 genomes]
rs10089222	0.85[ASN][1000 genomes]
rs10097891	0.93[ASN][1000 genomes]
rs10100341	0.92[ASN][1000 genomes]
rs10102731	0.93[ASN][1000 genomes]
rs10105317	0.89[ASN][1000 genomes]
rs10106153	0.89[ASN][1000 genomes]
rs10113471	0.83[ASN][1000 genomes]
rs10481354	0.93[ASN][1000 genomes]
rs11136421	0.83[ASN][1000 genomes]
rs11136422	0.84[ASN][1000 genomes]
rs11136424	0.99[ASN][1000 genomes]
rs11778824	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11986414	0.87[AMR][1000 genomes]
rs12335115	0.87[ASN][1000 genomes]
rs12674711	0.86[ASN][1000 genomes]
rs13251071	0.83[ASN][1000 genomes]
rs13256424	0.92[ASN][1000 genomes]
rs13261755	0.83[ASN][1000 genomes]
rs13282161	0.86[ASN][1000 genomes]
rs13540	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2293977	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28376731	0.88[ASN][1000 genomes]
rs2957085	0.83[ASN][1000 genomes]
rs35062922	0.84[ASN][1000 genomes]
rs3812477	0.91[ASN][1000 genomes]
rs4242538	0.83[ASN][1000 genomes]
rs4370560	0.93[ASN][1000 genomes]
rs4372027	0.93[ASN][1000 genomes]
rs4595147	0.90[ASN][1000 genomes]
rs4639549	0.93[ASN][1000 genomes]
rs4875806	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4875889	0.83[ASN][1000 genomes]
rs4875957	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4875958	0.96[ASN][1000 genomes]
rs6558518	0.87[ASN][1000 genomes]
rs6558520	0.88[ASN][1000 genomes]
rs6558521	0.89[ASN][1000 genomes]
rs6558522	0.89[ASN][1000 genomes]
rs6558523	0.89[ASN][1000 genomes]
rs6558524	0.89[ASN][1000 genomes]
rs6558525	0.89[ASN][1000 genomes]
rs6558526	0.87[ASN][1000 genomes]
rs6558527	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6558528	0.86[ASN][1000 genomes]
rs6558530	0.84[ASN][1000 genomes]
rs6558531	0.93[ASN][1000 genomes]
rs6558532	0.92[ASN][1000 genomes]
rs6558533	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6558534	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6558535	0.93[ASN][1000 genomes]
rs6558536	0.83[AMR][1000 genomes]
rs6558538	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6981804	0.89[ASN][1000 genomes]
rs6984632	0.86[ASN][1000 genomes]
rs6986102	0.88[ASN][1000 genomes]
rs6991773	0.92[ASN][1000 genomes]
rs6991783	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6993706	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7000162	0.97[ASN][1000 genomes]
rs7001282	0.89[ASN][1000 genomes]
rs7005592	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7005699	0.89[ASN][1000 genomes]
rs7008465	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7010616	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7013835	0.83[ASN][1000 genomes]
rs7013841	0.83[ASN][1000 genomes]
rs7014327	0.92[ASN][1000 genomes]
rs7014823	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7015858	0.92[ASN][1000 genomes]
rs71499040	0.93[ASN][1000 genomes]
rs730377	0.93[ASN][1000 genomes]
rs730379	0.93[ASN][1000 genomes]
rs7341635	0.92[ASN][1000 genomes]
rs7459507	0.86[ASN][1000 genomes]
rs7460230	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7460287	0.93[ASN][1000 genomes]
rs7460365	0.88[ASN][1000 genomes]
rs7460866	0.88[ASN][1000 genomes]
rs7460972	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7461159	0.99[ASN][1000 genomes]
rs7461259	0.83[ASN][1000 genomes]
rs7461600	0.93[ASN][1000 genomes]
rs7462693	0.86[AMR][1000 genomes]
rs7463876	0.93[ASN][1000 genomes]
rs7463879	0.91[ASN][1000 genomes]
rs7465178	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7818406	0.89[ASN][1000 genomes]
rs7822816	0.91[ASN][1000 genomes]
rs7827009	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7827285	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7828950	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7838456	0.93[ASN][1000 genomes]
rs7842425	0.93[ASN][1000 genomes]
rs7844748	0.89[ASN][1000 genomes]
rs7846610	0.93[ASN][1000 genomes]
rs9022	0.91[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6982516	CTD-2336O2.1	cis	Nerve Tibial	GTEx
rs6982516	CTD-2336O2.1	cis	lung	GTEx
rs6982516	CTD-2336O2.1	cis	Adipose Subcutaneous	GTEx
rs6982516	CTD-2336O2.1	cis	Thyroid	GTEx
rs6982516	CTD-2336O2.1	cis	Muscle Skeletal	GTEx
rs6982516	CTD-2336O2.1	cis	Artery Tibial	GTEx
rs6982516	CTD-2336O2.1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1712800-1717400	Weak transcription	Aorta	Aorta
2	chr8:1713000-1719200	Weak transcription	Ovary	ovary
3	chr8:1713200-1717000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:1713400-1716200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:1713400-1716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:1713400-1716600	Weak transcription	Right Ventricle	heart
7	chr8:1713400-1716800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:1713400-1716800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:1713400-1716800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:1713400-1717000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:1713400-1717000	Weak transcription	HSMM	muscle
12	chr8:1713400-1717000	Weak transcription	HSMMtube	muscle
13	chr8:1713400-1717200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:1713400-1717200	Weak transcription	Fetal Lung	lung
15	chr8:1713400-1719600	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:1713400-1721000	Weak transcription	Psoas Muscle	Psoas
17	chr8:1713400-1727000	Weak transcription	NHDF-Ad	bronchial
18	chr8:1713400-1735800	Weak transcription	Fetal Brain Male	brain
19	chr8:1713600-1716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:1713600-1716600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:1713600-1716600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:1713600-1716600	Weak transcription	Colonic Mucosa	Colon
23	chr8:1713600-1716600	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:1713600-1716800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:1713600-1717000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:1713600-1717200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:1713600-1717200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:1713600-1719200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:1713600-1719200	Weak transcription	Brain Germinal Matrix	brain
30	chr8:1713600-1719200	Weak transcription	Fetal Brain Female	brain
31	chr8:1713600-1719400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:1713600-1719400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:1713600-1719400	Weak transcription	Osteobl	bone
34	chr8:1713600-1721400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:1713600-1729600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:1713800-1716800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:1713800-1717000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:1713800-1717200	Weak transcription	Fetal Kidney	kidney
39	chr8:1713800-1718800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:1713800-1719200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:1714000-1716400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:1714000-1716600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:1714000-1716600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:1714000-1716800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:1714000-1716800	Weak transcription	NHLF	lung
46	chr8:1714000-1717000	Weak transcription	Hela-S3	cervix
47	chr8:1714000-1717200	Weak transcription	Stomach Mucosa	stomach
48	chr8:1714000-1718600	Enhancers	Left Ventricle	heart
49	chr8:1714000-1728000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:1714000-1729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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