Variant report

Variant	rs13206340
Chromosome Location	chr6:49500113-49500114
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:49500000..49503895-chr6:49600238..49603257,3	K562	blood:
2	chr6:49499692..49500483-chr6:49574481..49575427,8	MCF-7	breast:
3	chr6:49499441..49500314-chr6:49538175..49539136,4	MCF-7	breast:
4	chr6:49499580..49500610-chr6:49574247..49575454,8	K562	blood:
5	chr6:49499887..49500445-chr6:49524307..49524969,2	MCF-7	breast:
6	chr6:49499033..49501525-chr6:49634761..49637688,2	MCF-7	breast:
7	chr6:49499656..49500609-chr6:49537058..49537816,2	MCF-7	breast:
8	chr6:49499911..49500528-chr6:49531350..49532069,4	MCF-7	breast:
9	chr6:49499174..49502277-chr6:49525048..49528299,3	MCF-7	breast:
10	chr6:49499618..49500440-chr6:49816868..49817738,3	MCF-7	breast:
11	chr6:49497362..49501500-chr6:49601757..49605673,4	K562	blood:
12	chr6:49499685..49500336-chr6:49635358..49636307,2	MCF-7	breast:
13	chr6:49499696..49501316-chr6:49522105..49524371,2	MCF-7	breast:
14	chr6:49499463..49500871-chr6:49574020..49575551,31	MCF-7	breast:
15	chr6:49499887..49503550-chr6:49516409..49519510,5	MCF-7	breast:
16	chr6:49494658..49496334-chr6:49499353..49501283,2	MCF-7	breast:
17	chr6:49499933..49500477-chr6:49998395..49998919,2	K562	blood:
18	chr6:49499423..49500431-chr6:49538182..49539258,8	MCF-7	breast:
19	chr6:49499719..49500373-chr6:58777827..58778441,2	MCF-7	breast:
20	chr10:128056862..128057606-chr6:49499841..49500715,2	MCF-7	breast:
21	chr6:49493393..49496049-chr6:49496487..49500188,3	K562	blood:
22	chr6:49498619..49500704-chr6:49815578..49817454,2	K562	blood:
23	chr6:49499548..49500326-chr6:49816940..49817878,3	MCF-7	breast:
24	chr6:49499080..49500519-chr6:49816228..49818102,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197261	Chromatin interaction
ENSG00000112077	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13196352	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13197588	0.80[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2127758	0.88[ASN][1000 genomes]
rs4715135	0.96[ASN][1000 genomes]
rs4715136	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs749515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9463500	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9463501	0.94[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	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv885881	chr6:49439805-49575141	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49496800-49508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:49497000-49509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:49499600-49500400	Enhancers	NHEK	skin
4	chr6:49500000-49500200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:49500000-49500400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:49500000-49500400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:49500000-49500400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:49500000-49500400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:49500000-49500400	Active TSS	Muscle Satellite Cultured Cells	--
10	chr6:49500000-49500400	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr6:49500000-49500400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:49500000-49500400	Active TSS	Liver	Liver
13	chr6:49500000-49500400	Active TSS	Brain Anterior Caudate	brain
14	chr6:49500000-49500400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr6:49500000-49500400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:49500000-49500400	Active TSS	Fetal Lung	lung
17	chr6:49500000-49500400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr6:49500000-49500400	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr6:49500000-49500400	Active TSS	A549	lung
20	chr6:49500000-49500400	Active TSS	HepG2	liver
21	chr6:49500000-49500400	Flanking Active TSS	HUVEC	blood vessel
22	chr6:49500000-49500400	Active TSS	K562	blood
23	chr6:49500000-49500400	Active TSS	NHDF-Ad	bronchial
24	chr6:49500000-49500400	Active TSS	NHLF	lung
25	chr6:49500000-49500600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:49500000-49500600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:49500000-49500600	Active TSS	Adipose Nuclei	Adipose

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