Variant report

Variant	rs2575217
Chromosome Location	chr6:80225699-80225700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80225254..80226799-chr6:80227104..80230022,2	K562	blood:
2	chr6:80224927..80226694-chr6:80245209..80247983,2	MCF-7	breast:
3	chr6:80221232..80224610-chr6:80224901..80227580,3	K562	blood:
4	chr6:80221232..80223663-chr6:80223749..80226401,2	K562	blood:

Variant related genes	Relation type
ENSG00000135338	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12206063	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1485363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1485364	0.96[CEU][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1485365	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1827628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.83[ASN][1000 genomes]
rs2220191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292109	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2575197	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2575200	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2575201	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2575214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2575215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2575216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2575218	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629468	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2655676	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2655678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2655687	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2655688	1.00[ASW][hapmap];0.81[CEU][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2655693	0.89[CHB][hapmap];0.93[CHD][hapmap];0.84[ASN][1000 genomes]
rs2655694	1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[ASN][1000 genomes]
rs2803174	0.84[CEU][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2803175	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2803186	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2803190	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2803194	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2803203	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2803204	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2812698	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2814388	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs767789	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7753415	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.84[ASN][1000 genomes]
rs9352745	1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[ASN][1000 genomes]
rs9448735	0.84[ASN][1000 genomes]
rs971806	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv1798451	chr6:80222511-80234343	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80171600-80226600	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:80179800-80235000	Weak transcription	HSMMtube	muscle
3	chr6:80190200-80234400	Weak transcription	Fetal Intestine Large	intestine
4	chr6:80192400-80226800	Weak transcription	Brain Anterior Caudate	brain
5	chr6:80195400-80235000	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:80198400-80235000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:80199000-80235000	Weak transcription	Adipose Nuclei	Adipose
8	chr6:80207600-80246000	Weak transcription	Ovary	ovary
9	chr6:80209000-80235000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:80212400-80232600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:80214400-80235000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:80214600-80246000	Weak transcription	Fetal Stomach	stomach
13	chr6:80215200-80229600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:80216000-80236800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:80216400-80235000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:80216400-80235000	Weak transcription	NH-A	brain
17	chr6:80217600-80235000	Weak transcription	Pancreas	Pancrea
18	chr6:80217800-80227200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:80217800-80246000	Weak transcription	Aorta	Aorta
20	chr6:80218200-80244000	Weak transcription	Fetal Brain Female	brain
21	chr6:80218400-80228000	Weak transcription	K562	blood
22	chr6:80218400-80233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:80219000-80235400	Weak transcription	Fetal Heart	heart
24	chr6:80220400-80230200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:80221400-80235600	Weak transcription	Fetal Kidney	kidney
26	chr6:80221800-80234400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:80222000-80227400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:80222400-80235200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:80223000-80233200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:80223400-80227600	Weak transcription	HSMM	muscle
31	chr6:80223400-80234800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:80223400-80240400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:80223600-80233600	Weak transcription	Fetal Lung	lung
34	chr6:80223600-80234000	Weak transcription	HMEC	breast
35	chr6:80224000-80233400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:80224800-80233600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:80225000-80225800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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