Variant report

Variant	rs2655662
Chromosome Location	chr6:80281367-80281368
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80280191..80281527-chr6:80382018..80383050,5	K562	blood:
2	chr6:80279995..80281714-chr6:80381655..80383225,21	MCF-7	breast:
3	chr6:80281015..80282775-chr6:80350445..80353172,2	K562	blood:
4	chr6:80280090..80282233-chr6:80340167..80342160,2	K562	blood:
5	chr6:80274259..80277516-chr6:80279204..80282534,3	K562	blood:

Variant related genes	Relation type
ENSG00000198478	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10943650	0.87[AFR][1000 genomes]
rs13198837	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13206818	0.91[CHB][hapmap]
rs1354452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2009837	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2047896	0.87[CHB][hapmap]
rs2655663	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2655683	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2655699	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2655700	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2655701	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2812689	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2812690	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2812692	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3747766	0.90[CHB][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3747767	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3967183	0.82[CHB][hapmap]
rs4599589	0.81[ASN][1000 genomes]
rs6915859	0.87[CHB][hapmap]
rs6930436	0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs71565047	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72624517	0.81[AMR][1000 genomes]
rs7754849	0.83[CHB][hapmap]
rs9294148	0.85[YRI][hapmap]
rs9341781	0.87[CHB][hapmap];0.81[AMR][1000 genomes]
rs9341782	0.83[ASN][1000 genomes]
rs9343918	0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9343919	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9352737	0.82[CHB][hapmap]
rs9352744	0.82[CHB][hapmap]
rs9352747	0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9359382	0.87[CHB][hapmap]
rs9359383	0.91[CHB][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9359384	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9359385	0.85[ASN][1000 genomes]
rs9361538	0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9361539	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9448748	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs958114	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80260800-80283000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:80278000-80287400	Weak transcription	Small Intestine	intestine
3	chr6:80278600-80283000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:80279400-80287600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:80279800-80284600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:80280200-80283800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:80280400-80282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:80280600-80281400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:80280600-80283800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:80280600-80284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:80280800-80281400	Enhancers	Fetal Brain Female	brain
12	chr6:80280800-80284000	Weak transcription	Osteobl	bone
13	chr6:80280800-80285200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:80281000-80281400	Enhancers	Stomach Mucosa	stomach
15	chr6:80281000-80281600	Enhancers	HSMM	muscle
16	chr6:80281000-80282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:80281000-80282800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:80281000-80283200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:80281000-80283600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:80281000-80283600	Weak transcription	HepG2	liver
21	chr6:80281000-80283600	Weak transcription	NH-A	brain
22	chr6:80281000-80283800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:80281000-80284000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:80281000-80284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:80281000-80284000	Weak transcription	NHDF-Ad	bronchial
26	chr6:80281000-80284200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:80281000-80284200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:80281000-80284200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:80281000-80284400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:80281000-80284400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:80281000-80284400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:80281000-80284400	Weak transcription	HMEC	breast
33	chr6:80281000-80284400	Weak transcription	NHEK	skin
34	chr6:80281000-80284800	Weak transcription	Ovary	ovary
35	chr6:80281000-80309600	Weak transcription	Brain Angular Gyrus	brain
36	chr6:80281200-80282800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:80281200-80283400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:80281200-80283800	Weak transcription	HUVEC	blood vessel
39	chr6:80281200-80287400	Weak transcription	Fetal Intestine Small	intestine
40	chr6:80281200-80289600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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