Variant report

Variant	rs62524957
Chromosome Location	chr8:61666600-61666601
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61646629..61649455-chr8:61665377..61667682,2	K562	blood:
2	chr8:61660270..61663422-chr8:61664798..61667143,3	K562	blood:
3	chr8:61665265..61668192-chr8:61670388..61672627,2	K562	blood:

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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926444	1.00[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	0.94[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	1.00[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]
rs62526484	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526486	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	1.00[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61655600-61671400	Weak transcription	Hela-S3	cervix
2	chr8:61656000-61678000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:61657000-61690400	Weak transcription	HepG2	liver
4	chr8:61658400-61683200	Weak transcription	Fetal Intestine Large	intestine
5	chr8:61661200-61679000	Weak transcription	Small Intestine	intestine
6	chr8:61662000-61667400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr8:61663000-61666800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:61664400-61666800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr8:61664400-61671200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:61664600-61679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:61664800-61667200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:61664800-61671800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:61665000-61667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:61665000-61671200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:61665000-61671200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:61665000-61671200	Weak transcription	HUVEC	blood vessel
17	chr8:61665000-61671800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:61665000-61671800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:61665000-61671800	Weak transcription	Fetal Brain Male	brain
20	chr8:61665000-61672000	Weak transcription	Right Atrium	heart
21	chr8:61665000-61674400	Weak transcription	Primary B cells from cord blood	blood
22	chr8:61665000-61674800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:61665000-61677600	Weak transcription	Psoas Muscle	Psoas
24	chr8:61665000-61681000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:61665200-61666800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:61665200-61671800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:61665200-61674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:61665200-61674800	Weak transcription	Left Ventricle	heart
29	chr8:61665200-61677200	Weak transcription	Fetal Thymus	thymus
30	chr8:61665400-61674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:61665600-61671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:61665600-61671200	Weak transcription	Brain Anterior Caudate	brain
33	chr8:61665600-61671400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:61665600-61671400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:61665600-61671400	Weak transcription	GM12878-XiMat	blood
36	chr8:61665600-61672000	Weak transcription	Fetal Brain Female	brain
37	chr8:61665600-61674800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:61665800-61667200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:61665800-61668800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:61665800-61669000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:61665800-61671200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:61665800-61671200	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:61665800-61671200	Weak transcription	Dnd41	blood
44	chr8:61665800-61671200	Weak transcription	K562	blood
45	chr8:61665800-61679000	Weak transcription	Adipose Nuclei	Adipose
46	chr8:61666000-61666600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:61666000-61666600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr8:61666000-61667200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:61666000-61671200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:61666000-61671600	Weak transcription	HSMMtube	muscle

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