Variant report

Variant	rs60637114
Chromosome Location	chr2:40559984-40559985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1035160	0.87[AMR][1000 genomes]
rs60759204	1.00[AMR][1000 genomes]
rs72939241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72939245	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943146	0.84[AFR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40549400-40565200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:40550400-40560400	Enhancers	Fetal Heart	heart
4	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
5	chr2:40555600-40560000	Enhancers	Colon Smooth Muscle	Colon
6	chr2:40555600-40560200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:40556600-40563000	Weak transcription	Right Ventricle	heart
8	chr2:40557000-40568200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:40558800-40560200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:40558800-40560400	Enhancers	HUVEC	blood vessel
11	chr2:40558800-40561200	Enhancers	Left Ventricle	heart
12	chr2:40559000-40560000	Enhancers	A549	lung
13	chr2:40559000-40560000	Enhancers	NHDF-Ad	bronchial
14	chr2:40559000-40560200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:40559000-40560200	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:40559000-40560200	Enhancers	Hela-S3	cervix
17	chr2:40559000-40560200	Enhancers	NHLF	lung
18	chr2:40559000-40560200	Enhancers	Osteobl	bone
19	chr2:40559200-40560000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:40559200-40560000	Enhancers	Adipose Nuclei	Adipose
21	chr2:40559200-40560000	Enhancers	Fetal Intestine Large	intestine
22	chr2:40559200-40560000	Enhancers	Fetal Lung	lung
23	chr2:40559200-40560200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:40559200-40560200	Enhancers	Fetal Intestine Small	intestine
25	chr2:40559200-40560200	Enhancers	HSMM	muscle
26	chr2:40559600-40560000	Enhancers	HSMMtube	muscle
27	chr2:40559600-40560200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:40559600-40560200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:40559600-40560200	Enhancers	NH-A	brain
30	chr2:40559600-40560200	Enhancers	NHEK	skin
31	chr2:40559800-40560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:40559800-40560000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:40559800-40560000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr2:40559800-40560000	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:40559800-40560200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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