Variant report

Variant	rs808611
Chromosome Location	chr6:4858432-4858433
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	chr6:4853835..4856430-chr6:4856609..4858869,2	MCF-7	breast:
3	chr6:4857248..4859696-chr6:4863230..4865110,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1265336	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs1771884	0.87[ASN][1000 genomes]
rs1883327	0.82[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs233477	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs233479	1.00[JPT][hapmap]
rs55653939	0.81[ASN][1000 genomes]
rs6925763	0.84[ASN][1000 genomes]
rs73364556	0.82[ASN][1000 genomes]
rs808589	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs808603	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs808615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs808622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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	chr6:4844600-4859600	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	chr6:4849000-4859000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:4849000-4863000	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:4849200-4858600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:4849200-4858600	Weak transcription	Brain Substantia Nigra	brain
9	chr6:4849200-4859000	Weak transcription	Brain Anterior Caudate	brain
10	chr6:4849200-4859400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:4849200-4861400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:4849200-4863200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:4849200-4865400	Weak transcription	Aorta	Aorta
14	chr6:4849400-4862400	Weak transcription	Fetal Kidney	kidney
15	chr6:4849600-4861400	Weak transcription	Placenta	Placenta
16	chr6:4849800-4863800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr6:4849800-4868000	Weak transcription	Hela-S3	cervix
18	chr6:4850800-4858600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:4853400-4858600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:4854000-4870400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:4854200-4858600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:4854200-4859000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:4854200-4859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:4854400-4858600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:4854400-4858600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:4854400-4858600	Weak transcription	NHEK	skin
27	chr6:4854400-4861400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:4854400-4861600	Weak transcription	Fetal Thymus	thymus
29	chr6:4854400-4861800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:4854400-4870800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:4854600-4858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:4854600-4859600	Weak transcription	Gastric	stomach
33	chr6:4854600-4863200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:4854600-4871200	Weak transcription	NH-A	brain
35	chr6:4854800-4858600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:4854800-4858600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:4854800-4858600	Weak transcription	HMEC	breast
38	chr6:4854800-4863200	Weak transcription	Primary T cells from cord blood	blood
39	chr6:4855000-4858600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:4855000-4858600	Weak transcription	Ovary	ovary
41	chr6:4855000-4859000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:4855000-4861600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr6:4855200-4858800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:4855200-4858800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:4855200-4858800	Weak transcription	A549	lung
46	chr6:4855200-4861000	Weak transcription	K562	blood
47	chr6:4855200-4862000	Weak transcription	Fetal Intestine Small	intestine
48	chr6:4855200-4882200	Weak transcription	Fetal Stomach	stomach
49	chr6:4855800-4858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:4856400-4860800	Weak transcription	Primary B cells from cord blood	blood

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