Variant report

Variant	rs808597
Chromosome Location	chr6:4865751-4865752
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	chr6:4864258..4867257-chr6:4869047..4871548,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11967088	1.00[ASN][1000 genomes]
rs1630478	1.00[ASN][1000 genomes]
rs6933949	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6938896	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73348359	1.00[ASN][1000 genomes]
rs73348363	1.00[ASN][1000 genomes]
rs7761022	1.00[ASN][1000 genomes]
rs7769900	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7771142	1.00[ASN][1000 genomes]
rs7771355	1.00[ASN][1000 genomes]
rs808590	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808592	0.81[AFR][1000 genomes]
rs808594	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808595	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808596	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808599	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808601	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808602	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808604	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808618	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808620	0.83[YRI][hapmap]
rs808625	1.00[ASN][1000 genomes]
rs808626	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808627	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808628	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808630	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808632	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs809471	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4847400-4871000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:4849800-4868000	Weak transcription	Hela-S3	cervix
3	chr6:4854000-4870400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:4854400-4870800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:4854600-4871200	Weak transcription	NH-A	brain
6	chr6:4855200-4882200	Weak transcription	Fetal Stomach	stomach
7	chr6:4856800-4883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:4858800-4880400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:4859000-4876600	Weak transcription	Ovary	ovary
10	chr6:4859200-4867800	Weak transcription	A549	lung
11	chr6:4859600-4870200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:4859600-4870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:4859600-4871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:4859800-4870800	Weak transcription	NHEK	skin
15	chr6:4859800-4871000	Weak transcription	HMEC	breast
16	chr6:4859800-4871200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:4860200-4870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:4861800-4871400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:4861800-4872000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:4862200-4871400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:4862400-4872000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:4863400-4868200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:4864400-4865800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:4864400-4867600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:4865000-4870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:4865400-4865800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:4865400-4865800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
28	chr6:4865400-4866000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr6:4865400-4867600	Weak transcription	Primary B cells from cord blood	blood
30	chr6:4865400-4868400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:4865400-4871200	Weak transcription	K562	blood
32	chr6:4865600-4875000	Weak transcription	Aorta	Aorta
33	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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