Variant report

Variant	rs62524942
Chromosome Location	chr8:61639252-61639253
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61638836..61641055-chr8:61645040..61646971,2	K562	blood:
2	chr8:61637532..61640653-chr8:61641197..61643010,3	MCF-7	breast:

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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926444	0.94[AFR][1000 genomes];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]
rs62524943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524949	0.86[EUR][1000 genomes]
rs62524950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524951	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62524954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524956	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62524957	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526484	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62526485	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526486	0.91[AFR][1000 genomes];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	0.94[AFR][1000 genomes];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:63 , 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	chr8:61636400-61639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:61636400-61639800	Enhancers	Fetal Heart	heart
13	chr8:61636600-61641000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:61636800-61640800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:61636800-61644400	Weak transcription	Fetal Brain Female	brain
16	chr8:61636800-61644400	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:61637000-61644200	Weak transcription	Brain Germinal Matrix	brain
18	chr8:61637000-61648600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:61637000-61648600	Weak transcription	HSMM	muscle
20	chr8:61637000-61651200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:61637000-61654600	Weak transcription	Hela-S3	cervix
22	chr8:61637200-61640000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:61637400-61639400	Enhancers	GM12878-XiMat	blood
24	chr8:61637600-61644400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:61637800-61639600	Enhancers	Small Intestine	intestine
26	chr8:61637800-61643400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:61637800-61644400	Weak transcription	Brain Anterior Caudate	brain
28	chr8:61637800-61647600	Weak transcription	K562	blood
29	chr8:61638000-61644400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:61638200-61639600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:61638400-61643600	Weak transcription	Brain Angular Gyrus	brain
32	chr8:61638400-61643800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:61638400-61645000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:61638400-61648400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:61638600-61640600	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:61638600-61642000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:61638600-61643400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:61638600-61643600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:61638600-61643600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:61638600-61643800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:61638600-61644000	Weak transcription	Primary T cells from cord blood	blood
42	chr8:61638600-61644200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:61638600-61644400	Weak transcription	Right Atrium	heart
44	chr8:61638600-61644800	Weak transcription	Lung	lung
45	chr8:61638600-61644800	Weak transcription	Pancreas	Pancrea
46	chr8:61638600-61648400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:61638600-61648400	Weak transcription	Gastric	stomach
48	chr8:61638600-61648400	Weak transcription	Stomach Mucosa	stomach
49	chr8:61638600-61648600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr8:61638600-61651200	Weak transcription	Right Ventricle	heart

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