Variant report

Variant	rs7010616
Chromosome Location	chr8:1738721-1738722
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	chr8:1734427..1736636-chr8:1737511..1739234,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10089222	0.83[ASN][1000 genomes]
rs10097891	0.88[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10100341	0.88[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10105317	0.88[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap]
rs10481354	0.88[CHB][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap]
rs11136421	0.94[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap]
rs11136424	0.88[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs11778824	0.94[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11986414	0.94[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes]
rs13256424	0.81[ASN][1000 genomes]
rs13540	0.85[AMR][1000 genomes]
rs2293977	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes]
rs2957085	0.94[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap]
rs3812477	0.81[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs4242538	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs4242539	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs4370560	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs4595147	0.88[CHB][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap]
rs4639549	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs4875806	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4875957	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4875958	0.88[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4875960	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6558520	0.88[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap]
rs6558521	0.88[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap]
rs6558522	0.88[CHB][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap]
rs6558523	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs6558525	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs6558527	0.94[CHB][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes]
rs6558533	0.94[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes]
rs6558534	0.90[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes]
rs6558538	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6982516	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6986102	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs6991773	0.82[ASN][1000 genomes]
rs6991783	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6993706	0.94[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7000162	0.83[ASN][1000 genomes]
rs7005592	0.94[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes]
rs7005699	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7008465	0.94[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7013835	0.90[ASN][1000 genomes]
rs7013841	0.90[ASN][1000 genomes]
rs7014327	0.88[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs7014823	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7015858	0.88[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs7341635	0.81[ASN][1000 genomes]
rs7460287	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs7460972	0.85[AMR][1000 genomes]
rs7461159	0.88[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7462693	0.87[AMR][1000 genomes]
rs7465178	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7818406	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7827009	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7827285	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7828950	0.85[AMR][1000 genomes]
rs7842425	0.88[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap]
rs7844748	0.88[CHB][hapmap];0.84[GIH][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap]
rs7845723	0.87[CHB][hapmap];0.89[GIH][hapmap]
rs7846610	0.88[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7010616	CLN8	cis	parietal	SCAN
rs7010616	CTD-2336O2.1	cis	Artery Tibial	GTEx
rs7010616	CTD-2336O2.1	cis	Thyroid	GTEx
rs7010616	CTD-2336O2.1	cis	Esophagus Muscularis	GTEx
rs7010616	CTD-2336O2.1	cis	Muscle Skeletal	GTEx
rs7010616	CTD-2336O2.1	cis	Adipose Subcutaneous	GTEx
rs7010616	MYOM2	cis	cerebellum	SCAN
rs7010616	CTD-2336O2.1	cis	lung	GTEx
rs7010616	CTD-2336O2.1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1732000-1739000	Weak transcription	Fetal Brain Female	brain
2	chr8:1733000-1740000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:1735200-1742200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:1735800-1742400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:1736200-1740000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:1736200-1743600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:1736400-1739800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:1736400-1740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:1736400-1740000	Weak transcription	Esophagus	oesophagus
10	chr8:1736400-1740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:1736400-1740200	Weak transcription	Colonic Mucosa	Colon
12	chr8:1736400-1741600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:1736400-1741600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:1736400-1744400	Weak transcription	Lung	lung
15	chr8:1736400-1744400	Weak transcription	Spleen	Spleen
16	chr8:1736400-1747800	Weak transcription	Ovary	ovary
17	chr8:1736400-1749800	Weak transcription	Liver	Liver
18	chr8:1736600-1739800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:1736600-1740600	Weak transcription	HMEC	breast
20	chr8:1736600-1747800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:1736800-1747600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:1736800-1748000	Weak transcription	Aorta	Aorta
23	chr8:1737000-1739400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:1737000-1741600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:1737000-1742000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:1737000-1744800	Weak transcription	Right Ventricle	heart
27	chr8:1737200-1740000	Weak transcription	Fetal Thymus	thymus
28	chr8:1737200-1740200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:1737200-1743000	Weak transcription	Primary B cells from cord blood	blood
30	chr8:1737600-1740000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:1737600-1744200	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:1737800-1738800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:1737800-1739800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:1737800-1739800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:1737800-1739800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:1737800-1739800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:1737800-1740000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:1737800-1740000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:1737800-1740000	Weak transcription	Left Ventricle	heart
40	chr8:1737800-1740000	Weak transcription	Pancreas	Pancrea
41	chr8:1737800-1740600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:1737800-1741200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:1737800-1741400	Weak transcription	Fetal Stomach	stomach
44	chr8:1737800-1741600	Weak transcription	Adipose Nuclei	Adipose
45	chr8:1737800-1744600	Weak transcription	Right Atrium	heart
46	chr8:1737800-1745800	Weak transcription	HSMMtube	muscle
47	chr8:1738000-1739800	Weak transcription	Primary T cells from cord blood	blood
48	chr8:1738200-1739800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:1738600-1738800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr8:1738600-1739000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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