Variant report

Variant	rs62524943
Chromosome Location	chr8:61639778-61639779
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61639286..61642173-chr8:61648208..61649850,2	K562	blood:
2	chr8:61638836..61641055-chr8:61645040..61646971,2	K562	blood:
3	chr8:61637532..61640653-chr8:61641197..61643010,3	MCF-7	breast:
4	chr8:61591525..61593079-chr8:61639346..61640984,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10098584	1.00[ASN][1000 genomes]
rs10101023	1.00[ASN][1000 genomes]
rs13261519	1.00[ASN][1000 genomes]
rs13269361	1.00[ASN][1000 genomes]
rs13438807	1.00[ASN][1000 genomes]
rs16926379	1.00[ASN][1000 genomes]
rs16926398	1.00[ASN][1000 genomes]
rs16926440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926456	1.00[ASN][1000 genomes]
rs16926528	1.00[ASN][1000 genomes]
rs28539174	1.00[ASN][1000 genomes]
rs28539276	1.00[ASN][1000 genomes]
rs28667506	1.00[ASN][1000 genomes]
rs34833917	1.00[ASN][1000 genomes]
rs35777815	1.00[ASN][1000 genomes]
rs41272442	1.00[ASN][1000 genomes]
rs62524908	0.86[EUR][1000 genomes]
rs62524913	0.86[EUR][1000 genomes]
rs62524942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524949	0.86[EUR][1000 genomes]
rs62524950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524951	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62524954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62524957	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526484	1.00[ASN][1000 genomes]
rs62526485	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526486	1.00[AMR][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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61621200-61646400	Weak transcription	Fetal Brain Male	brain
3	chr8:61627800-61644400	Weak transcription	Fetal Kidney	kidney
4	chr8:61634400-61643400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:61634400-61643400	Weak transcription	HepG2	liver
6	chr8:61634800-61640400	Weak transcription	Left Ventricle	heart
7	chr8:61634800-61647000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:61635000-61654200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:61635600-61641200	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:61636200-61640000	Enhancers	Primary B cells from cord blood	blood
11	chr8:61636400-61639800	Enhancers	Fetal Heart	heart
12	chr8:61636600-61641000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr8:61636800-61640800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:61636800-61644400	Weak transcription	Fetal Brain Female	brain
15	chr8:61636800-61644400	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:61637000-61644200	Weak transcription	Brain Germinal Matrix	brain
17	chr8:61637000-61648600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:61637000-61648600	Weak transcription	HSMM	muscle
19	chr8:61637000-61651200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:61637000-61654600	Weak transcription	Hela-S3	cervix
21	chr8:61637200-61640000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:61637600-61644400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:61637800-61643400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:61637800-61644400	Weak transcription	Brain Anterior Caudate	brain
25	chr8:61637800-61647600	Weak transcription	K562	blood
26	chr8:61638000-61644400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:61638400-61643600	Weak transcription	Brain Angular Gyrus	brain
28	chr8:61638400-61643800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:61638400-61645000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:61638400-61648400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:61638600-61640600	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:61638600-61642000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:61638600-61643400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:61638600-61643600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:61638600-61643600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:61638600-61643800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:61638600-61644000	Weak transcription	Primary T cells from cord blood	blood
38	chr8:61638600-61644200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:61638600-61644400	Weak transcription	Right Atrium	heart
40	chr8:61638600-61644800	Weak transcription	Lung	lung
41	chr8:61638600-61644800	Weak transcription	Pancreas	Pancrea
42	chr8:61638600-61648400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:61638600-61648400	Weak transcription	Gastric	stomach
44	chr8:61638600-61648400	Weak transcription	Stomach Mucosa	stomach
45	chr8:61638600-61648600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:61638600-61651200	Weak transcription	Right Ventricle	heart
47	chr8:61638600-61654000	Weak transcription	NHEK	skin
48	chr8:61638600-61664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:61639000-61643600	Weak transcription	Brain Substantia Nigra	brain
50	chr8:61639000-61644800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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