Variant report

Variant	rs619393
Chromosome Location	chr6:161395738-161395739
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	chr6:161393815..161395750-chr6:161411160..161414209,3	MCF-7	breast:
2	chr6:161393152..161396048-chr6:161411470..161414358,4	K562	blood:

Variant related genes	Relation type
ENSG00000272841	Chromatin interaction
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1001809	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11754459	1.00[JPT][hapmap]
rs11963931	1.00[JPT][hapmap]
rs13194157	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1464779	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1464780	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1543261	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1562026	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1982291	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2275925	1.00[JPT][hapmap]
rs2275926	1.00[JPT][hapmap]
rs2872613	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4472323	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4559074	1.00[ASN][1000 genomes]
rs4708898	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4709486	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4709489	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4709490	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4709491	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4709493	1.00[ASN][1000 genomes]
rs4709495	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4709496	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs587501	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615269	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628923	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455701	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645718	1.00[ASN][1000 genomes]
rs647923	0.90[EUR][1000 genomes]
rs655605	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs657551	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662541	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs668638	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682110	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683549	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685388	0.88[EUR][1000 genomes]
rs6900500	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs6902332	1.00[ASN][1000 genomes]
rs6902760	1.00[ASN][1000 genomes]
rs6905942	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6908283	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6913706	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914092	1.00[JPT][hapmap]
rs6918476	1.00[ASN][1000 genomes]
rs6919831	1.00[ASN][1000 genomes]
rs6923835	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs6925502	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925800	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6929462	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933810	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs705829	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705830	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738762	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7753585	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7760056	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9346846	0.86[AMR][1000 genomes]
rs9355330	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9355332	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9355867	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9355872	1.00[ASN][1000 genomes]
rs9355873	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9364585	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9364586	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9365248	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9458126	1.00[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	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161392200-161396400	Enhancers	HSMM	muscle
2	chr6:161392400-161396400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:161392600-161395800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:161392600-161396000	Enhancers	NH-A	brain
5	chr6:161392600-161396200	Enhancers	NHEK	skin
6	chr6:161392600-161396400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:161392800-161396400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:161392800-161396400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:161392800-161396600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:161392800-161396600	Enhancers	HMEC	breast
11	chr6:161393000-161395800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:161393000-161396400	Enhancers	Fetal Muscle Leg	muscle
13	chr6:161393000-161396400	Enhancers	NHLF	lung
14	chr6:161393200-161397000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:161393400-161396200	Enhancers	Placenta	Placenta
16	chr6:161393800-161396200	Enhancers	K562	blood
17	chr6:161393800-161396400	Enhancers	Fetal Heart	heart
18	chr6:161393800-161396400	Enhancers	Left Ventricle	heart
19	chr6:161393800-161396400	Enhancers	Ovary	ovary
20	chr6:161394000-161396000	Enhancers	Right Atrium	heart
21	chr6:161394000-161396200	Enhancers	Right Ventricle	heart
22	chr6:161394000-161396400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:161394000-161396400	Enhancers	Adipose Nuclei	Adipose
24	chr6:161394000-161396400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:161394000-161396600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:161394000-161396600	Enhancers	Fetal Lung	lung
27	chr6:161394200-161396000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:161394200-161396800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:161394200-161396800	Enhancers	Fetal Stomach	stomach
30	chr6:161394400-161395800	Enhancers	Pancreas	Pancrea
31	chr6:161394400-161396400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:161394600-161396400	Enhancers	Brain Germinal Matrix	brain
33	chr6:161394600-161396600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:161394600-161396800	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:161395000-161395800	Enhancers	Fetal Kidney	kidney
36	chr6:161395000-161395800	Active TSS	Stomach Smooth Muscle	stomach
37	chr6:161395000-161396000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:161395000-161396200	Enhancers	HSMMtube	muscle
39	chr6:161395000-161396400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr6:161395400-161395800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:161395400-161395800	Enhancers	Esophagus	oesophagus
42	chr6:161395400-161396200	Enhancers	Duodenum Mucosa	Duodenum
43	chr6:161395400-161396400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:161395400-161396400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:161395400-161396600	Enhancers	Fetal Brain Male	brain
46	chr6:161395400-161396800	Enhancers	NHDF-Ad	bronchial
47	chr6:161395600-161396200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:161395600-161396400	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr6:161395600-161396400	Enhancers	Osteobl	bone
50	chr6:161395600-161396800	Enhancers	HUES6 Cell Line	embryonic stem cell

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