Variant report

Variant	rs11969174
Chromosome Location	chr6:166976012-166976013
allele	C/T
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: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11963778	0.89[AMR][1000 genomes]
rs11964118	1.00[AMR][1000 genomes]
rs11969154	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11969176	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11970618	1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12333313	1.00[MEX][hapmap]
rs1476045	1.00[MEX][hapmap]
rs16899080	1.00[MEX][hapmap]
rs16899084	1.00[MEX][hapmap]
rs16899098	1.00[MEX][hapmap]
rs16899123	0.89[AMR][1000 genomes]
rs16899126	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16899129	1.00[AMR][1000 genomes]
rs16899148	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16899150	1.00[AMR][1000 genomes]
rs16899151	1.00[AMR][1000 genomes]
rs16899153	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16899157	1.00[AMR][1000 genomes]
rs57647994	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58032331	1.00[ASN][1000 genomes]
rs59061765	0.89[AMR][1000 genomes]
rs60005152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61045375	1.00[AMR][1000 genomes]
rs6900800	1.00[MEX][hapmap]
rs6905167	1.00[MEX][hapmap]
rs6917139	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73255201	1.00[AMR][1000 genomes]
rs73257211	1.00[AMR][1000 genomes]
rs73257221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257231	1.00[ASN][1000 genomes]
rs73257240	1.00[AMR][1000 genomes]
rs73257242	0.89[AMR][1000 genomes];1.00[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	chr6:166971000-166976600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:166971000-166986000	Weak transcription	Pancreas	Pancrea
9	chr6:166971400-166980200	Weak transcription	Brain Anterior Caudate	brain
10	chr6:166972200-166976200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:166972200-166976200	Weak transcription	Right Atrium	heart
12	chr6:166972200-166979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:166972200-166986000	Weak transcription	Gastric	stomach
14	chr6:166972400-166979200	Weak transcription	NHEK	skin
15	chr6:166972600-166976400	Weak transcription	HUVEC	blood vessel
16	chr6:166973000-166979200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:166973400-166984600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:166973600-166978000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:166973800-166977400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:166973800-166977400	Weak transcription	Fetal Brain Female	brain
21	chr6:166973800-166979000	Weak transcription	HMEC	breast
22	chr6:166973800-166979200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:166973800-166986000	Weak transcription	Fetal Intestine Small	intestine
24	chr6:166974000-166978400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:166974000-166979400	Weak transcription	Brain Substantia Nigra	brain
26	chr6:166974000-166989600	Weak transcription	Primary T cells from cord blood	blood
27	chr6:166974200-166981600	Enhancers	Fetal Muscle Leg	muscle
28	chr6:166974400-166978400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:166974400-166992400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:166974600-166976200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:166974600-166976400	Enhancers	NHDF-Ad	bronchial
32	chr6:166974600-166977800	Enhancers	Spleen	Spleen
33	chr6:166974600-166978000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:166974600-166979000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:166974600-166979400	Genic enhancers	Fetal Stomach	stomach
36	chr6:166974600-166981000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:166974800-166976200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:166974800-166976200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:166974800-166977000	Enhancers	Esophagus	oesophagus
40	chr6:166974800-166977000	Genic enhancers	Lung	lung
41	chr6:166974800-166977600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:166974800-166986000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:166975000-166977000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:166975000-166979200	Weak transcription	Brain Angular Gyrus	brain
45	chr6:166975200-166976200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:166975200-166976400	Enhancers	Ovary	ovary
47	chr6:166975200-166976600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr6:166975400-166976200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:166975400-166976400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:166975600-166977200	Weak transcription	Fetal Brain Male	brain

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