Variant report

Variant	rs6729573
Chromosome Location	chr2:63152328-63152329
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:9)

rs_ID	r²[population]
rs11683932	1.00[LWK][hapmap]
rs11686081	1.00[LWK][hapmap]
rs13397638	1.00[LWK][hapmap]
rs13417661	1.00[LWK][hapmap]
rs17473979	1.00[LWK][hapmap]
rs34310142	1.00[GIH][hapmap]
rs35228788	1.00[MKK][hapmap]
rs4633915	1.00[LWK][hapmap]
rs4671449	0.94[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63122800-63166600	Weak transcription	HMEC	breast
2	chr2:63142400-63190800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:63145000-63155400	Weak transcription	HUVEC	blood vessel
4	chr2:63147800-63154200	Weak transcription	K562	blood
5	chr2:63149400-63152400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:63150400-63152600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:63150400-63161400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:63150600-63176000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:63151200-63161600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:63151200-63161600	Weak transcription	NHDF-Ad	bronchial
11	chr2:63151200-63166000	Weak transcription	Liver	Liver
12	chr2:63151200-63166800	Weak transcription	NHEK	skin
13	chr2:63151200-63167200	Weak transcription	HSMM	muscle
14	chr2:63151200-63171200	Weak transcription	Ovary	ovary
15	chr2:63151200-63175600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:63151200-63182800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:63151400-63153000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:63151400-63153600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:63151400-63155400	Weak transcription	Aorta	Aorta
20	chr2:63151400-63157200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:63151400-63157200	Weak transcription	Left Ventricle	heart
22	chr2:63151400-63157200	Weak transcription	Pancreas	Pancrea
23	chr2:63151400-63159200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:63151400-63166400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:63151400-63166600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:63151400-63166800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:63151400-63169600	Weak transcription	A549	lung
28	chr2:63151400-63171400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:63151400-63194200	Weak transcription	Esophagus	oesophagus
30	chr2:63151400-63194200	Weak transcription	Fetal Brain Male	brain
31	chr2:63151400-63200800	Weak transcription	Fetal Stomach	stomach
32	chr2:63151400-63208800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:63151400-63272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:63151600-63152600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:63151600-63156400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:63152000-63165000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:63152200-63152400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:63152200-63154000	Weak transcription	HepG2	liver
39	chr2:63152200-63165000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:63152200-63169200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:63152200-63175600	Weak transcription	Primary T cells from cord blood	blood

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