Variant report

Variant	rs71524708
Chromosome Location	chr8:108442388-108442389
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108402015..108404323-chr8:108441443..108443995,2	K562	blood:
2	chr8:108439594..108441286-chr8:108441699..108444192,2	K562	blood:
3	chr8:108438018..108441094-chr8:108441728..108444192,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11984986	0.88[ASN][1000 genomes]
rs11991529	0.96[ASN][1000 genomes]
rs12678509	0.90[ASN][1000 genomes]
rs13255500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13257372	0.91[ASN][1000 genomes]
rs13263947	0.93[ASN][1000 genomes]
rs13264356	0.93[ASN][1000 genomes]
rs13265214	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268748	0.88[ASN][1000 genomes]
rs13272688	0.90[ASN][1000 genomes]
rs13276416	0.92[ASN][1000 genomes]
rs13280030	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13281824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34145387	0.88[ASN][1000 genomes]
rs34562665	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34612085	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6991687	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71562145	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9650030	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108421800-108448200	Weak transcription	Psoas Muscle	Psoas
2	chr8:108434000-108449800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:108436000-108442600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:108438800-108447600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:108438800-108448400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:108439800-108442600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:108439800-108444000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:108439800-108449800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:108440600-108452000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:108440800-108442400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:108441000-108442800	Enhancers	Osteobl	bone
12	chr8:108441000-108443200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:108441000-108444000	Enhancers	Colon Smooth Muscle	Colon
14	chr8:108441200-108442400	Enhancers	Adipose Nuclei	Adipose
15	chr8:108441400-108442400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:108441400-108442800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:108441400-108449800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:108441600-108442400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:108441600-108444000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:108441800-108442800	Weak transcription	Fetal Kidney	kidney
21	chr8:108441800-108442800	Enhancers	NHDF-Ad	bronchial
22	chr8:108441800-108443000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:108441800-108443800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:108441800-108443800	Enhancers	Rectal Smooth Muscle	rectum
25	chr8:108441800-108444000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:108441800-108455400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:108442000-108442400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:108442000-108442400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:108442000-108442400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:108442000-108442400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:108442000-108442800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:108442000-108445400	Weak transcription	HMEC	breast
33	chr8:108442000-108447600	Weak transcription	Ovary	ovary
34	chr8:108442000-108448400	Weak transcription	Aorta	Aorta
35	chr8:108442000-108449800	Weak transcription	Small Intestine	intestine
36	chr8:108442200-108442400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:108442200-108442600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:108442200-108443000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:108442200-108443000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:108442200-108443400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:108442200-108443400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:108442200-108443800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:108442200-108444000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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