Variant report

Variant	rs7356969
Chromosome Location	chr6:80235004-80235005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80233865..80235621-chr6:80253239..80255596,2	K562	blood:
2	chr6:80234104..80236785-chr6:80239338..80241775,2	K562	blood:
3	chr6:80233273..80237296-chr6:80243465..80250344,8	K562	blood:
4	chr6:80232386..80237378-chr6:80253283..80257767,7	K562	blood:
5	chr6:80233762..80237001-chr6:80242844..80245026,3	K562	blood:

Variant related genes	Relation type
ENSG00000135338	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10943651	0.88[AMR][1000 genomes]
rs13206818	0.81[AMR][1000 genomes]
rs2047896	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2803193	0.84[ASN][1000 genomes]
rs66572100	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72624517	0.84[ASN][1000 genomes]
rs7754849	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9294148	0.81[AMR][1000 genomes]
rs9341781	0.84[ASN][1000 genomes]
rs9343920	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9343921	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9352743	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9352744	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9359382	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9361537	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv886303	chr6:80147225-80252423	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80207600-80246000	Weak transcription	Ovary	ovary
2	chr6:80214600-80246000	Weak transcription	Fetal Stomach	stomach
3	chr6:80216000-80236800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:80217800-80246000	Weak transcription	Aorta	Aorta
5	chr6:80218200-80244000	Weak transcription	Fetal Brain Female	brain
6	chr6:80219000-80235400	Weak transcription	Fetal Heart	heart
7	chr6:80221400-80235600	Weak transcription	Fetal Kidney	kidney
8	chr6:80222400-80235200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:80223400-80240400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:80228000-80241800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:80232600-80236000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:80233800-80236200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:80234200-80236000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:80234200-80243000	Weak transcription	Fetal Lung	lung
15	chr6:80234200-80246000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:80234400-80235600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:80234400-80235600	Enhancers	Fetal Intestine Large	intestine
18	chr6:80234400-80235600	Enhancers	Small Intestine	intestine
19	chr6:80234400-80246400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:80234800-80235200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:80234800-80235800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:80234800-80235800	Enhancers	HSMM	muscle
23	chr6:80234800-80236000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:80234800-80236000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:80234800-80236000	Flanking Active TSS	HepG2	liver
26	chr6:80235000-80235200	Flanking Active TSS	HMEC	breast
27	chr6:80235000-80235400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:80235000-80235400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:80235000-80235400	Enhancers	HSMMtube	muscle
30	chr6:80235000-80235600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:80235000-80235600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:80235000-80235600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:80235000-80235600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:80235000-80235600	Enhancers	Pancreas	Pancrea
35	chr6:80235000-80235800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:80235000-80235800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:80235000-80235800	Enhancers	Adipose Nuclei	Adipose
38	chr6:80235000-80235800	Enhancers	Fetal Muscle Leg	muscle
39	chr6:80235000-80235800	Flanking Active TSS	K562	blood
40	chr6:80235000-80236000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:80235000-80236000	Enhancers	Fetal Intestine Small	intestine
42	chr6:80235000-80236000	Enhancers	NH-A	brain
43	chr6:80235000-80236000	Enhancers	Osteobl	bone
44	chr6:80235000-80243000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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