Variant report

Variant	rs808613
Chromosome Location	chr6:4857611-4857612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4857248..4860930-chr6:4863042..4865412,3	K562	blood:
2	chr6:4850106..4852238-chr6:4856143..4858051,2	K562	blood:
3	chr6:4857152..4857690-chr6:4957366..4957947,2	MCF-7	breast:
4	chr6:4853835..4856430-chr6:4856609..4858869,2	MCF-7	breast:
5	chr6:4857248..4859696-chr6:4863230..4865110,2	K562	blood:

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

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

rs_ID	r²[population]
rs1091274	0.84[AFR][1000 genomes]
rs1265329	1.00[YRI][hapmap]
rs1265331	1.00[YRI][hapmap]
rs1737090	0.84[AFR][1000 genomes]
rs233475	1.00[YRI][hapmap]
rs2875969	1.00[YRI][hapmap]
rs4367417	1.00[YRI][hapmap]
rs59561097	0.95[AFR][1000 genomes]
rs808591	0.89[AFR][1000 genomes]
rs808605	0.92[AFR][1000 genomes]
rs808609	0.92[AFR][1000 genomes]
rs808610	0.92[AFR][1000 genomes]
rs808612	1.00[AFR][1000 genomes]
rs808614	1.00[AFR][1000 genomes]
rs808617	0.84[AFR][1000 genomes]
rs808619	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs808623	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs808624	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs808637	0.89[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4844600-4859600	Weak transcription	Spleen	Spleen
2	chr6:4844800-4863000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:4846400-4859000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:4847400-4871000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:4849000-4857800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:4849000-4859000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:4849000-4863000	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:4849200-4857800	Weak transcription	Pancreas	Pancrea
9	chr6:4849200-4858200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:4849200-4858600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:4849200-4858600	Weak transcription	Brain Substantia Nigra	brain
12	chr6:4849200-4859000	Weak transcription	Brain Anterior Caudate	brain
13	chr6:4849200-4859400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:4849200-4861400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:4849200-4863200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:4849200-4865400	Weak transcription	Aorta	Aorta
17	chr6:4849400-4862400	Weak transcription	Fetal Kidney	kidney
18	chr6:4849600-4861400	Weak transcription	Placenta	Placenta
19	chr6:4849800-4858200	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:4849800-4858400	Weak transcription	Small Intestine	intestine
21	chr6:4849800-4863800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:4849800-4868000	Weak transcription	Hela-S3	cervix
23	chr6:4850800-4858600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:4853200-4858000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:4853400-4858200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:4853400-4858600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:4854000-4870400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr6:4854200-4858000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:4854200-4858600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:4854200-4859000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:4854200-4859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:4854400-4858600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:4854400-4858600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr6:4854400-4858600	Weak transcription	NHEK	skin
35	chr6:4854400-4861400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:4854400-4861600	Weak transcription	Fetal Thymus	thymus
37	chr6:4854400-4861800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:4854400-4870800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:4854600-4857800	Weak transcription	Esophagus	oesophagus
40	chr6:4854600-4857800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:4854600-4858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:4854600-4859600	Weak transcription	Gastric	stomach
43	chr6:4854600-4863200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:4854600-4871200	Weak transcription	NH-A	brain
45	chr6:4854800-4858600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:4854800-4858600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:4854800-4858600	Weak transcription	HMEC	breast
48	chr6:4854800-4863200	Weak transcription	Primary T cells from cord blood	blood
49	chr6:4855000-4858000	Weak transcription	Stomach Mucosa	stomach
50	chr6:4855000-4858600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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