Variant report

Variant	rs11970420
Chromosome Location	chr6:119501858-119501859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119495580..119498090-chr6:119500296..119504744,4	K562	blood:
2	chr6:119495135..119497259-chr6:119500110..119502999,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11964347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967793	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967806	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970485	0.88[AFR][1000 genomes]
rs12528343	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3734383	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756943	0.88[AFR][1000 genomes]
rs3819722	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3819723	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58744690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569053	0.94[ASN][1000 genomes]
rs760786	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873536	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs873537	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926358	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926359	0.97[AMR][1000 genomes];1.00[EUR][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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv886571	chr6:119494199-119517239	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119491800-119531200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:119492000-119507200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:119492200-119505400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:119492200-119527800	Weak transcription	NHEK	skin
5	chr6:119492400-119524200	Weak transcription	Fetal Stomach	stomach
6	chr6:119492600-119505600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:119493600-119518000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:119494000-119523600	Weak transcription	GM12878-XiMat	blood
9	chr6:119494600-119547400	Weak transcription	Esophagus	oesophagus
10	chr6:119494800-119505200	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:119494800-119526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:119495000-119506000	Weak transcription	Fetal Intestine Small	intestine
13	chr6:119495200-119507200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:119495200-119507400	Weak transcription	Pancreas	Pancrea
15	chr6:119495400-119522000	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:119495600-119522200	Weak transcription	Fetal Kidney	kidney
17	chr6:119496600-119507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:119497000-119512600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:119497000-119524000	Weak transcription	NHLF	lung
20	chr6:119497000-119524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:119497000-119524400	Weak transcription	Small Intestine	intestine
22	chr6:119497200-119518600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:119497400-119502600	Weak transcription	NHDF-Ad	bronchial
24	chr6:119497400-119507600	Weak transcription	Aorta	Aorta
25	chr6:119498000-119503800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:119498000-119504200	Strong transcription	Adipose Nuclei	Adipose
27	chr6:119498000-119504600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:119498000-119536600	Weak transcription	Fetal Heart	heart
29	chr6:119498200-119506800	Weak transcription	Spleen	Spleen
30	chr6:119498200-119527400	Strong transcription	Liver	Liver
31	chr6:119498600-119508400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:119498600-119508600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:119498600-119517600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:119498600-119531400	Strong transcription	HepG2	liver
35	chr6:119498800-119526800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:119499000-119517200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr6:119499400-119516200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:119499400-119518200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:119499400-119525400	Weak transcription	NH-A	brain
40	chr6:119499600-119506200	Weak transcription	Ovary	ovary
41	chr6:119499600-119524000	Weak transcription	Brain Anterior Caudate	brain
42	chr6:119499800-119524400	Weak transcription	Right Ventricle	heart
43	chr6:119500000-119502200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr6:119500000-119506000	Weak transcription	Colonic Mucosa	Colon
45	chr6:119500000-119509600	Weak transcription	Fetal Thymus	thymus
46	chr6:119500200-119505200	Strong transcription	K562	blood
47	chr6:119500400-119502600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:119500400-119502600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr6:119500400-119502600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:119500400-119503000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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