Variant report

Variant	rs2032546
Chromosome Location	chr6:166975390-166975391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:166974194..166976909-chr6:166977553..166980494,3	K562	blood:
2	chr6:166975267..166978295-chr6:166978843..166980508,3	K562	blood:
3	chr6:166970917..166973753-chr6:166974346..166977201,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1543802	1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs3778402	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778404	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3799611	0.84[EUR][1000 genomes]
rs3799612	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3799613	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3799617	0.88[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3799620	0.83[CHB][hapmap]
rs3799630	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9348148	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459695	0.88[CHB][hapmap];0.82[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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv5592	chr6:166958317-167002951	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166966200-166978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:166968400-166985800	Weak transcription	Fetal Kidney	kidney
3	chr6:166969400-166978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:166970200-166976200	Weak transcription	Right Ventricle	heart
5	chr6:166970800-166979800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:166970800-166986200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:166971000-166975600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:166971000-166976600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:166971000-166986000	Weak transcription	Pancreas	Pancrea
10	chr6:166971400-166980200	Weak transcription	Brain Anterior Caudate	brain
11	chr6:166972200-166976200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:166972200-166976200	Weak transcription	Right Atrium	heart
13	chr6:166972200-166979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:166972200-166986000	Weak transcription	Gastric	stomach
15	chr6:166972400-166979200	Weak transcription	NHEK	skin
16	chr6:166972600-166976400	Weak transcription	HUVEC	blood vessel
17	chr6:166973000-166979200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:166973200-166975800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:166973400-166984600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:166973600-166978000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:166973800-166975600	Weak transcription	HSMMtube	muscle
22	chr6:166973800-166976000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:166973800-166977400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:166973800-166977400	Weak transcription	Fetal Brain Female	brain
25	chr6:166973800-166979000	Weak transcription	HMEC	breast
26	chr6:166973800-166979200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:166973800-166986000	Weak transcription	Fetal Intestine Small	intestine
28	chr6:166974000-166975400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:166974000-166975400	Weak transcription	Brain Germinal Matrix	brain
30	chr6:166974000-166978400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:166974000-166979400	Weak transcription	Brain Substantia Nigra	brain
32	chr6:166974000-166989600	Weak transcription	Primary T cells from cord blood	blood
33	chr6:166974200-166981600	Enhancers	Fetal Muscle Leg	muscle
34	chr6:166974400-166975800	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:166974400-166978400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:166974400-166992400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:166974600-166975400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr6:166974600-166976200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:166974600-166976400	Enhancers	NHDF-Ad	bronchial
40	chr6:166974600-166977800	Enhancers	Spleen	Spleen
41	chr6:166974600-166978000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:166974600-166979000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:166974600-166979400	Genic enhancers	Fetal Stomach	stomach
44	chr6:166974600-166981000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr6:166974800-166975400	Enhancers	Psoas Muscle	Psoas
46	chr6:166974800-166975600	Enhancers	Left Ventricle	heart
47	chr6:166974800-166976000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:166974800-166976000	Enhancers	Colon Smooth Muscle	Colon
49	chr6:166974800-166976200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:166974800-166976200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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