Variant report

Variant	rs808610
Chromosome Location	chr6:4859664-4859665
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4857248..4860930-chr6:4863042..4865412,3	K562	blood:
2	chr6:4857248..4859696-chr6:4863230..4865110,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1091274	0.91[AFR][1000 genomes]
rs1265329	1.00[YRI][hapmap]
rs1265331	1.00[YRI][hapmap]
rs1737090	0.91[AFR][1000 genomes]
rs233475	1.00[YRI][hapmap]
rs2875969	1.00[YRI][hapmap]
rs4367417	1.00[YRI][hapmap]
rs59561097	0.86[AFR][1000 genomes]
rs7739527	0.83[AFR][1000 genomes]
rs808591	0.97[AFR][1000 genomes]
rs808605	1.00[AFR][1000 genomes]
rs808609	1.00[AFR][1000 genomes]
rs808612	0.92[AFR][1000 genomes]
rs808613	0.92[AFR][1000 genomes]
rs808614	0.92[AFR][1000 genomes]
rs808617	0.91[AFR][1000 genomes]
rs808619	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs808621	0.86[AFR][1000 genomes]
rs808623	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs808624	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs808629	0.86[AFR][1000 genomes]
rs808633	0.85[AFR][1000 genomes]
rs808636	0.86[AFR][1000 genomes]
rs808637	0.97[AFR][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	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4844800-4863000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:4847400-4871000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:4849000-4863000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:4849200-4861400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:4849200-4863200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:4849200-4865400	Weak transcription	Aorta	Aorta
7	chr6:4849400-4862400	Weak transcription	Fetal Kidney	kidney
8	chr6:4849600-4861400	Weak transcription	Placenta	Placenta
9	chr6:4849800-4863800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:4849800-4868000	Weak transcription	Hela-S3	cervix
11	chr6:4854000-4870400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:4854400-4861400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:4854400-4861600	Weak transcription	Fetal Thymus	thymus
14	chr6:4854400-4861800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:4854400-4870800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:4854600-4863200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:4854600-4871200	Weak transcription	NH-A	brain
18	chr6:4854800-4863200	Weak transcription	Primary T cells from cord blood	blood
19	chr6:4855000-4861600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:4855200-4861000	Weak transcription	K562	blood
21	chr6:4855200-4862000	Weak transcription	Fetal Intestine Small	intestine
22	chr6:4855200-4882200	Weak transcription	Fetal Stomach	stomach
23	chr6:4856400-4860800	Weak transcription	Primary B cells from cord blood	blood
24	chr6:4856800-4861400	Weak transcription	Right Atrium	heart
25	chr6:4856800-4865400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:4856800-4883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:4857000-4861400	Weak transcription	Lung	lung
28	chr6:4857400-4861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:4857600-4859800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:4858000-4859800	Enhancers	Stomach Mucosa	stomach
31	chr6:4858000-4860200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr6:4858400-4859800	Enhancers	Esophagus	oesophagus
33	chr6:4858600-4859800	Enhancers	HMEC	breast
34	chr6:4858600-4859800	Enhancers	NHEK	skin
35	chr6:4858600-4860000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr6:4858600-4860000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:4858600-4860000	Enhancers	Left Ventricle	heart
38	chr6:4858600-4860200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:4858600-4860200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:4858600-4860200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:4858800-4859800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:4858800-4859800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:4858800-4860000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:4858800-4880400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:4859000-4859800	Enhancers	Brain Anterior Caudate	brain
46	chr6:4859000-4860000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:4859000-4861400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:4859000-4861400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:4859000-4876600	Weak transcription	Ovary	ovary
50	chr6:4859200-4859800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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