Variant report

Variant	rs6724743
Chromosome Location	chr2:40591856-40591857
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11678256	0.96[ASN][1000 genomes]
rs11687700	0.87[ASN][1000 genomes]
rs11886400	0.80[ASN][1000 genomes]
rs12469017	0.85[ASN][1000 genomes]
rs12472064	0.89[ASN][1000 genomes]
rs17025877	0.83[ASN][1000 genomes]
rs34408472	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6544331	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72939976	0.88[ASN][1000 genomes]
rs72939984	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40586400-40592000	Weak transcription	Left Ventricle	heart
2	chr2:40586800-40593800	Enhancers	Fetal Heart	heart
3	chr2:40590200-40592200	Active TSS	Stomach Smooth Muscle	stomach
4	chr2:40590400-40592000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:40590400-40592400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:40590400-40592400	Active TSS	Right Atrium	heart
7	chr2:40590600-40592200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr2:40590600-40592400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:40590600-40592400	Active TSS	Aorta	Aorta
10	chr2:40591000-40592000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:40591000-40592000	Active TSS	Colon Smooth Muscle	Colon
12	chr2:40591000-40592000	Weak transcription	Fetal Brain Female	brain
13	chr2:40591000-40592000	Active TSS	Fetal Kidney	kidney
14	chr2:40591000-40592200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:40591000-40592200	Active TSS	Fetal Lung	lung
16	chr2:40591000-40592200	Active TSS	NHLF	lung
17	chr2:40591000-40598400	Weak transcription	Fetal Stomach	stomach
18	chr2:40591400-40592000	Active TSS	Fetal Muscle Leg	muscle
19	chr2:40591400-40592000	Active TSS	HUVEC	blood vessel
20	chr2:40591400-40592200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:40591400-40592200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:40591400-40592200	Active TSS	Adipose Nuclei	Adipose
23	chr2:40591400-40592200	Active TSS	NHDF-Ad	bronchial
24	chr2:40591600-40592000	Active TSS	Muscle Satellite Cultured Cells	--
25	chr2:40591600-40592000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:40591600-40592000	Active TSS	A549	lung
27	chr2:40591600-40592000	Active TSS	NH-A	brain
28	chr2:40591600-40592000	Active TSS	NHEK	skin
29	chr2:40591600-40592000	Active TSS	Osteobl	bone
30	chr2:40591600-40592200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:40591600-40592200	Active TSS	Duodenum Mucosa	Duodenum
32	chr2:40591600-40592200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr2:40591600-40592200	Active TSS	HMEC	breast
34	chr2:40591600-40592200	Active TSS	HSMM	muscle
35	chr2:40591600-40592400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:40591600-40592400	Active TSS	Ovary	ovary
37	chr2:40591600-40592800	Enhancers	Brain Angular Gyrus	brain
38	chr2:40591600-40600800	Weak transcription	Psoas Muscle	Psoas
39	chr2:40591800-40592000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:40591800-40592000	Active TSS	Primary hematopoietic stem cells	blood
41	chr2:40591800-40592200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:40591800-40592200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr2:40591800-40592200	Enhancers	Primary B cells from cord blood	blood
44	chr2:40591800-40592200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:40591800-40592200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:40591800-40592200	Enhancers	Fetal Brain Male	brain
47	chr2:40591800-40592200	Active TSS	Rectal Smooth Muscle	rectum
48	chr2:40591800-40592200	Enhancers	Thymus	Thymus
49	chr2:40591800-40592200	Flanking Active TSS	Hela-S3	cervix
50	chr2:40591800-40592400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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