Variant report

Variant	rs34104251
Chromosome Location	chr2:62995183-62995184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10153716	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1022110	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11688816	0.82[AFR][1000 genomes]
rs11893131	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713467	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12713468	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12989754	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12994674	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13013218	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13418889	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1468748	0.81[EUR][1000 genomes]
rs1553832	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17027429	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1828398	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs189671	0.89[EUR][1000 genomes]
rs1906198	0.82[EUR][1000 genomes]
rs2058567	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2080227	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2136737	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2215870	0.81[EUR][1000 genomes]
rs2421816	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2539978	0.80[ASN][1000 genomes]
rs2539984	0.85[ASN][1000 genomes]
rs2710637	0.81[ASN][1000 genomes]
rs2710639	0.81[ASN][1000 genomes]
rs360799	0.82[EUR][1000 genomes]
rs360800	0.83[EUR][1000 genomes]
rs3927201	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4461246	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4671050	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4671051	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4671450	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6545971	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6545972	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6545973	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6714241	0.85[ASN][1000 genomes]
rs7557501	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7562149	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7562734	0.84[EUR][1000 genomes]
rs7567923	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7571916	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7573756	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9678329	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9973612	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62953600-63001200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:62958200-63010200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:62961200-63011600	Weak transcription	NHLF	lung
4	chr2:62967000-62997000	Weak transcription	Dnd41	blood
5	chr2:62968400-62995200	Weak transcription	Left Ventricle	heart
6	chr2:62974200-63017200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:62982200-63009800	Weak transcription	Fetal Intestine Small	intestine
8	chr2:62982200-63033400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:62982400-62996000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:62982400-63006200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:62983200-62995600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:62984400-63009800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:62987800-63001600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:62988000-62997800	Weak transcription	NHEK	skin
15	chr2:62988000-63009600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:62988000-63010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:62988000-63012400	Weak transcription	HSMM	muscle
18	chr2:62988200-63012400	Weak transcription	HMEC	breast
19	chr2:62990800-62998400	Weak transcription	Liver	Liver
20	chr2:62991400-62997800	Weak transcription	Fetal Lung	lung
21	chr2:62991400-63000000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:62991600-62999600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:62991800-63003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:62992200-63001600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:62992600-62995400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:62992800-62999400	Weak transcription	A549	lung
27	chr2:62993000-62997000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:62993400-62998400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:62993400-63001800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:62993400-63007000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:62993600-62995200	Weak transcription	Osteobl	bone
32	chr2:62993600-63001200	Weak transcription	Ovary	ovary
33	chr2:62993600-63004800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:62993800-62995200	Weak transcription	HepG2	liver
35	chr2:62993800-62995800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:62993800-62996400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:62994200-62995600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:62994400-63001600	Weak transcription	NHDF-Ad	bronchial
39	chr2:62994800-63010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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