Variant report

Variant	rs17080185
Chromosome Location	chr6:149256668-149256669
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	chr6:149255240..149257017-chr6:149261483..149263895,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1038348	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12175861	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17080004	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17080191	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17080323	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1964571	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3734374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6917705	0.97[ASN][1000 genomes]
rs6941568	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9373582	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9377180	0.97[ASN][1000 genomes]
rs9390635	0.97[ASN][1000 genomes]
rs9390636	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9390637	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9390638	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9390641	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9390642	0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9390643	0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs9399676	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9399677	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9404006	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9404008	0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149243600-149262600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:149246000-149262600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:149246800-149262400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:149247200-149258800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:149247200-149259000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:149247800-149268800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:149252800-149257600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:149253600-149256800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:149253800-149257600	Enhancers	HSMMtube	muscle
10	chr6:149253800-149262600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:149254000-149256800	Enhancers	NHEK	skin
12	chr6:149254600-149257600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:149254600-149257600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:149254600-149257600	Enhancers	Fetal Muscle Leg	muscle
15	chr6:149254600-149257600	Enhancers	NHDF-Ad	bronchial
16	chr6:149254800-149257600	Enhancers	Fetal Brain Male	brain
17	chr6:149254800-149268800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:149255200-149257600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:149255400-149257000	Enhancers	Stomach Smooth Muscle	stomach
20	chr6:149255400-149257000	Enhancers	Osteobl	bone
21	chr6:149255400-149257200	Enhancers	Fetal Lung	lung
22	chr6:149255400-149257400	Enhancers	HSMM	muscle
23	chr6:149255400-149257600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:149255400-149257600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:149255400-149257600	Enhancers	Fetal Stomach	stomach
26	chr6:149255600-149257000	Enhancers	Adipose Nuclei	Adipose
27	chr6:149255600-149257000	Enhancers	Ovary	ovary
28	chr6:149255600-149257200	Enhancers	NHLF	lung
29	chr6:149255600-149257400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:149255600-149257600	Enhancers	Colon Smooth Muscle	Colon
31	chr6:149255600-149257800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:149255600-149268600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:149255800-149257200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr6:149255800-149262600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:149255800-149262800	Weak transcription	Left Ventricle	heart
36	chr6:149255800-149264800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:149255800-149268800	Weak transcription	Brain Substantia Nigra	brain
38	chr6:149255800-149268800	Weak transcription	Fetal Kidney	kidney
39	chr6:149256000-149257200	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:149256000-149257600	Enhancers	NH-A	brain
41	chr6:149256200-149257400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:149256400-149257200	Enhancers	Aorta	Aorta
43	chr6:149256400-149257600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:149256400-149257600	Enhancers	HMEC	breast
45	chr6:149256400-149264800	Weak transcription	Fetal Heart	heart
46	chr6:149256400-149266400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:149256600-149256800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:149256600-149257800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:149256600-149292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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