Variant report

Variant	rs7601340
Chromosome Location	chr2:55653053-55653054
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55646192..55651046-chr2:55651862..55657167,5	K562	blood:
2	chr2:55652771..55655244-chr2:55659480..55661281,2	K562	blood:
3	chr2:55652880..55655236-chr2:55657266..55660173,3	MCF-7	breast:
4	chr2:55651546..55653549-chr2:55657687..55659327,2	K562	blood:

Variant related genes	Relation type
ENSG00000115355	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10169185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11125568	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs11125569	0.84[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs11125572	0.87[CEU][hapmap];0.80[JPT][hapmap]
rs11695152	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618216	0.82[AMR][1000 genomes]
rs12618795	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs1598163	1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1902061	0.85[CEU][hapmap];0.80[JPT][hapmap];0.91[AMR][1000 genomes]
rs1902062	0.81[AMR][1000 genomes]
rs2100454	0.89[ASN][1000 genomes]
rs28501559	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2867194	0.81[JPT][hapmap]
rs4233961	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs4352263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4672032	0.87[ASN][1000 genomes]
rs4672033	0.88[ASN][1000 genomes]
rs4672034	0.87[ASN][1000 genomes]
rs4672035	0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs4672045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56225989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545489	0.84[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs6545490	0.83[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs6709204	0.83[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs6724840	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs7559987	0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7586440	0.86[JPT][hapmap]
rs7595396	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55648000-55653400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:55648000-55659000	Weak transcription	Adipose Nuclei	Adipose
3	chr2:55650000-55653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:55650000-55659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:55651000-55653400	Enhancers	HMEC	breast
6	chr2:55651200-55653400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:55651200-55653400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:55651600-55653400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:55651600-55653400	Enhancers	NHEK	skin
10	chr2:55651800-55653200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:55652000-55653400	Enhancers	NHLF	lung
12	chr2:55652200-55653200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:55652200-55653200	Enhancers	HUVEC	blood vessel
14	chr2:55652200-55653200	Enhancers	Osteobl	bone
15	chr2:55652200-55653400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:55652200-55653400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:55652200-55653400	Flanking Active TSS	Hela-S3	cervix
18	chr2:55652200-55653400	Enhancers	NH-A	brain
19	chr2:55652400-55653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:55652400-55653400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:55652400-55653400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:55652400-55653400	Enhancers	Stomach Mucosa	stomach
23	chr2:55652400-55653400	Flanking Active TSS	A549	lung
24	chr2:55652400-55653400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr2:55652800-55653400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:55652800-55653400	Enhancers	Spleen	Spleen
27	chr2:55653000-55653200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:55653000-55653200	Enhancers	NHDF-Ad	bronchial

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