Variant report

Variant	rs808627
Chromosome Location	chr6:4881615-4881616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4880182..4882516-chr6:4938911..4940429,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11967088	1.00[ASN][1000 genomes]
rs1630478	1.00[ASN][1000 genomes]
rs2063676	1.00[MEX][hapmap]
rs6933949	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6938896	1.00[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	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7771142	1.00[ASN][1000 genomes]
rs7771355	1.00[ASN][1000 genomes]
rs808590	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808592	0.81[AFR][1000 genomes]
rs808594	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808595	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808596	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808597	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808599	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808601	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808602	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808604	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808620	0.82[ASW][hapmap];0.90[LWK][hapmap];0.91[MKK][hapmap];0.94[YRI][hapmap]
rs808625	1.00[ASN][1000 genomes]
rs808626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808632	1.00[AFR][1000 genomes];1.00[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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4855200-4882200	Weak transcription	Fetal Stomach	stomach
2	chr6:4856800-4883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:4869600-4890000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:4871400-4891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:4871400-4892000	Weak transcription	NHEK	skin
7	chr6:4872000-4883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:4872000-4892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:4872200-4898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:4873400-4883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:4874000-4891200	Weak transcription	Primary T cells from cord blood	blood
12	chr6:4874200-4882200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:4874200-4892000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:4874200-4892000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:4874200-4894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:4874800-4892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:4875000-4882200	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:4875000-4882200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:4875200-4892000	Weak transcription	Aorta	Aorta
20	chr6:4875400-4882200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:4875400-4882200	Weak transcription	Brain Anterior Caudate	brain
22	chr6:4875400-4882200	Weak transcription	Right Ventricle	heart
23	chr6:4875600-4890200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:4876200-4884400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:4876800-4884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:4877000-4892400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:4877200-4892000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:4877200-4892800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:4877400-4882200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:4877400-4883200	Weak transcription	Left Ventricle	heart
31	chr6:4877400-4883600	Weak transcription	Lung	lung
32	chr6:4877400-4883600	Weak transcription	Psoas Muscle	Psoas
33	chr6:4877400-4883600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:4877400-4891400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:4877400-4892000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:4877400-4892000	Weak transcription	Ovary	ovary
37	chr6:4877400-4892200	Weak transcription	Esophagus	oesophagus
38	chr6:4878200-4905200	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:4879600-4906200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:4880200-4881800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr6:4880200-4881800	Flanking Active TSS	GM12878-XiMat	blood
42	chr6:4880400-4891000	Weak transcription	Fetal Heart	heart
43	chr6:4880400-4892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:4880400-4907800	Weak transcription	Small Intestine	intestine
45	chr6:4880600-4882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr6:4880600-4890000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:4880600-4892000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:4880600-4892000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:4880600-4898600	Weak transcription	HSMM	muscle
50	chr6:4880800-4881800	Enhancers	Primary monocytes fromperipheralblood	blood

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