Variant report

Variant	rs62526486
Chromosome Location	chr8:61677814-61677815
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	chr8:61676637..61679256-chr8:61683583..61686325,2	K562	blood:
2	chr8:61676372..61677908-chr8:61681345..61682979,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10098584	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100774	0.86[EUR][1000 genomes]
rs10101023	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107158	0.86[EUR][1000 genomes]
rs13261519	1.00[ASN][1000 genomes]
rs13269361	1.00[ASN][1000 genomes]
rs13438807	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926379	1.00[ASN][1000 genomes]
rs16926398	1.00[ASN][1000 genomes]
rs16926440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926456	1.00[ASN][1000 genomes]
rs16926528	1.00[ASN][1000 genomes]
rs28539174	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539276	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28667506	1.00[ASN][1000 genomes]
rs34833917	1.00[ASN][1000 genomes]
rs35777815	1.00[ASN][1000 genomes]
rs41272442	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41312172	0.86[EUR][1000 genomes]
rs45461501	0.86[EUR][1000 genomes]
rs60899058	0.86[EUR][1000 genomes]
rs62524942	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62524943	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62524944	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62524946	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62524950	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62524951	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62524952	1.00[AMR][1000 genomes]
rs62524954	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62524956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526484	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526485	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526528	1.00[ASN][1000 genomes]
rs6471895	1.00[ASN][1000 genomes]
rs7013969	1.00[ASN][1000 genomes]
rs730084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73254571	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61656000-61678000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:61657000-61690400	Weak transcription	HepG2	liver
3	chr8:61658400-61683200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:61661200-61679000	Weak transcription	Small Intestine	intestine
5	chr8:61664600-61679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:61665000-61681000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:61665800-61679000	Weak transcription	Adipose Nuclei	Adipose
8	chr8:61671800-61678200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:61671800-61679200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:61672000-61681000	Weak transcription	NHEK	skin
11	chr8:61672000-61694400	Weak transcription	A549	lung
12	chr8:61672200-61678800	Weak transcription	Brain Germinal Matrix	brain
13	chr8:61672200-61693400	Weak transcription	Hela-S3	cervix
14	chr8:61672200-61694000	Weak transcription	HUVEC	blood vessel
15	chr8:61672400-61679600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:61672600-61678200	Weak transcription	Pancreas	Pancrea
17	chr8:61672600-61679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:61672600-61679600	Weak transcription	HSMMtube	muscle
19	chr8:61672600-61681000	Weak transcription	Fetal Brain Female	brain
20	chr8:61672600-61685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:61672800-61678200	Weak transcription	Dnd41	blood
22	chr8:61672800-61680000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:61674400-61678200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:61674800-61679000	Weak transcription	Fetal Kidney	kidney
25	chr8:61675000-61678200	Weak transcription	Spleen	Spleen
26	chr8:61675000-61679000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:61675000-61679000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:61675000-61679400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:61675000-61679600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:61675000-61679600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:61675000-61679800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:61675000-61682400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:61675000-61683200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:61675000-61687000	Weak transcription	Fetal Stomach	stomach
35	chr8:61675200-61679000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:61675200-61679200	Weak transcription	Primary T cells from cord blood	blood
37	chr8:61675400-61678000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:61675400-61678200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:61675400-61678400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:61675400-61679000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:61675400-61679200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:61675400-61679400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:61675400-61679600	Weak transcription	Fetal Lung	lung
44	chr8:61675600-61679800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr8:61676000-61678200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:61676000-61678400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:61676000-61678800	Weak transcription	Brain Substantia Nigra	brain
48	chr8:61676000-61679000	Weak transcription	Lung	lung
49	chr8:61676200-61678600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:61676200-61679800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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