Variant report

Variant	rs7577478
Chromosome Location	chr2:40573119-40573120
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40569259..40571407-chr2:40573018..40575519,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10182686	0.81[ASN][1000 genomes]
rs10208527	0.89[ASN][1000 genomes]
rs12611602	0.99[ASN][1000 genomes]
rs12611608	0.97[ASN][1000 genomes]
rs12712691	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041764	0.85[AFR][1000 genomes]
rs2192774	0.80[ASN][1000 genomes]
rs7561383	0.97[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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
3	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:40566200-40575600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:40568600-40575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:40568800-40573200	Weak transcription	Dnd41	blood
7	chr2:40569800-40573600	Enhancers	Osteobl	bone
8	chr2:40570200-40575600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:40570400-40574600	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:40570400-40576800	Enhancers	NHDF-Ad	bronchial
11	chr2:40570600-40574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:40571000-40573400	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:40571000-40573800	Enhancers	Fetal Stomach	stomach
14	chr2:40571000-40577000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:40571400-40573400	Weak transcription	Aorta	Aorta
16	chr2:40571400-40574600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:40571400-40576000	Enhancers	Right Atrium	heart
18	chr2:40571400-40576800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:40571600-40573600	Weak transcription	NH-A	brain
20	chr2:40571600-40575600	Weak transcription	HMEC	breast
21	chr2:40571600-40582600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:40571800-40573400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:40571800-40573400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:40571800-40573600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:40571800-40574600	Enhancers	Right Ventricle	heart
26	chr2:40572200-40573400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:40572200-40573400	Weak transcription	HSMM	muscle
28	chr2:40572400-40573400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:40572400-40573400	Weak transcription	Ovary	ovary
30	chr2:40572400-40573400	Weak transcription	HSMMtube	muscle
31	chr2:40572400-40573400	Weak transcription	NHLF	lung
32	chr2:40572400-40573600	Weak transcription	Brain Angular Gyrus	brain
33	chr2:40572600-40573400	Weak transcription	Adipose Nuclei	Adipose
34	chr2:40572800-40573200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:40572800-40573200	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:40573000-40573600	Weak transcription	Left Ventricle	heart
37	chr2:40573000-40574400	Flanking Active TSS	Fetal Heart	heart

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