Variant report

Variant	rs2803204
Chromosome Location	chr6:80253331-80253332
allele	C/T
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	chr6:80247904..80250067-chr6:80253206..80255779,2	MCF-7	breast:
3	chr6:80246201..80249127-chr6:80252156..80255932,7	MCF-7	breast:
4	chr6:80232386..80237378-chr6:80253283..80257767,7	K562	blood:
5	chr6:80242321..80244974-chr6:80252815..80254989,3	K562	blood:

Variant related genes	Relation type
ENSG00000135338	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12206063	1.00[CHB][hapmap]
rs1827628	1.00[CHB][hapmap]
rs2220191	1.00[CHB][hapmap]
rs2575197	0.82[ASN][1000 genomes]
rs2575201	1.00[CHB][hapmap]
rs2575214	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2575215	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2575216	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2575217	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2575218	0.82[ASN][1000 genomes]
rs2629468	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2655675	1.00[CHB][hapmap]
rs2655678	1.00[CHB][hapmap]
rs2655693	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2655694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2803186	0.90[CHB][hapmap]
rs2803194	0.82[ASN][1000 genomes]
rs2803203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2812700	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs767789	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7753415	1.00[CHB][hapmap]
rs9352745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv463906	chr6:80240951-80313297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv604052	chr6:80240951-80313297	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80247600-80267800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:80247800-80253800	Weak transcription	Small Intestine	intestine
3	chr6:80247800-80256800	Weak transcription	Lung	lung
4	chr6:80247800-80257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:80247800-80257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:80247800-80257600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:80248000-80262000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:80248200-80253600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:80248600-80254000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:80248600-80254000	Weak transcription	Primary T cells from cord blood	blood
11	chr6:80248600-80254000	Weak transcription	Hela-S3	cervix
12	chr6:80248600-80262800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:80248600-80262800	Weak transcription	Liver	Liver
14	chr6:80248800-80253400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:80248800-80253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:80248800-80253600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:80248800-80253600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:80248800-80253600	Weak transcription	HSMMtube	muscle
19	chr6:80248800-80253800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:80248800-80253800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:80248800-80253800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:80248800-80253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:80248800-80253800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:80248800-80253800	Weak transcription	Fetal Kidney	kidney
25	chr6:80248800-80253800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:80248800-80253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:80248800-80254000	Weak transcription	Adipose Nuclei	Adipose
28	chr6:80248800-80254000	Weak transcription	Fetal Brain Male	brain
29	chr6:80248800-80254000	Weak transcription	Fetal Intestine Small	intestine
30	chr6:80248800-80254000	Weak transcription	Right Ventricle	heart
31	chr6:80248800-80254000	Weak transcription	NHDF-Ad	bronchial
32	chr6:80248800-80254600	Weak transcription	Aorta	Aorta
33	chr6:80248800-80257000	Weak transcription	Pancreas	Pancrea
34	chr6:80248800-80258000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:80248800-80262000	Weak transcription	Psoas Muscle	Psoas
36	chr6:80248800-80272000	Weak transcription	Ovary	ovary
37	chr6:80249000-80253800	Weak transcription	Osteobl	bone
38	chr6:80249200-80253600	Weak transcription	HUVEC	blood vessel
39	chr6:80249400-80253400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:80249400-80253400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:80249400-80253400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:80249400-80253800	Weak transcription	Fetal Heart	heart
43	chr6:80249400-80254000	Weak transcription	Right Atrium	heart
44	chr6:80249400-80262200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:80249600-80253800	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:80249600-80253800	Weak transcription	Fetal Lung	lung
47	chr6:80249600-80253800	Weak transcription	HepG2	liver
48	chr6:80249600-80254000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr6:80251600-80254000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:80251800-80253800	Enhancers	Brain Cingulate Gyrus	brain

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