Variant report

Variant	rs6471757
Chromosome Location	chr8:59805738-59805739
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	chr8:59801933..59804319-chr8:59804381..59806631,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10093993	0.86[AMR][1000 genomes]
rs10095333	0.86[AMR][1000 genomes]
rs10098750	0.86[AMR][1000 genomes]
rs10105665	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10108037	0.86[AMR][1000 genomes]
rs10109566	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10112089	0.86[AMR][1000 genomes]
rs12114218	0.86[AMR][1000 genomes]
rs12115074	0.84[GIH][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes]
rs13261666	0.86[AMR][1000 genomes]
rs13263261	0.86[AMR][1000 genomes]
rs13268621	0.86[AMR][1000 genomes]
rs13271523	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13280926	0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs1448541	0.86[AMR][1000 genomes]
rs1562612	0.84[GIH][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes]
rs2044643	0.81[YRI][hapmap]
rs2326213	0.86[AMR][1000 genomes]
rs4737525	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4738729	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4738730	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4738731	0.91[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes]
rs4738732	0.91[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes]
rs4738733	0.86[AMR][1000 genomes]
rs4738734	0.83[AMR][1000 genomes]
rs4738735	0.86[AMR][1000 genomes]
rs6415583	0.81[YRI][hapmap]
rs6471756	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs6651298	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6988143	0.86[AMR][1000 genomes]
rs7000535	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7001367	0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs7002967	0.86[AMR][1000 genomes]
rs7004274	0.86[AMR][1000 genomes]
rs7829715	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7845800	0.94[LWK][hapmap];0.82[MKK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs9298002	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890940	chr8:59785412-59809785	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv526468	chr8:59799820-59813809	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59764200-59806400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:59771400-59811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:59773400-59808200	Weak transcription	Thymus	Thymus
4	chr8:59790800-59811200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:59791400-59811000	Weak transcription	Brain Angular Gyrus	brain
6	chr8:59794200-59820000	Weak transcription	Fetal Intestine Large	intestine
7	chr8:59794800-59811000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:59800600-59809800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:59800800-59809600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:59800800-59810600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:59800800-59811000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:59801000-59808000	Weak transcription	Dnd41	blood
13	chr8:59801400-59811000	Weak transcription	Primary T cells from cord blood	blood
14	chr8:59802200-59810800	Weak transcription	HUVEC	blood vessel
15	chr8:59802800-59826600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:59804200-59811000	Weak transcription	Gastric	stomach
17	chr8:59804400-59806000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr8:59804600-59806000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:59804600-59806600	Strong transcription	Fetal Thymus	thymus
20	chr8:59804800-59806200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:59805000-59812200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:59805000-59815200	Weak transcription	Fetal Heart	heart
23	chr8:59805200-59815600	Weak transcription	Fetal Stomach	stomach
24	chr8:59805400-59808000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:59805400-59808200	Weak transcription	Osteobl	bone
26	chr8:59805400-59808400	Weak transcription	Fetal Brain Male	brain
27	chr8:59805400-59810600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:59805400-59826800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:59805600-59805800	Enhancers	Colon Smooth Muscle	Colon
30	chr8:59805600-59811000	Weak transcription	NHDF-Ad	bronchial

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