Variant report

Variant	rs12029151
Chromosome Location	chr1:221611496-221611497
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1031674	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11118738	0.81[JPT][hapmap]
rs11118740	0.83[JPT][hapmap]
rs12030169	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12032381	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12038764	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12039408	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12041783	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12046746	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17010060	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17010123	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1903138	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1903139	0.81[CEU][hapmap];0.91[JPT][hapmap];0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34525999	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35826842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59313526	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6657854	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6674252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6688377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6688476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72629676	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7544629	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr1:221604800-221612800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:221605800-221612400	Weak transcription	Fetal Heart	heart
3	chr1:221605800-221613600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:221606200-221613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:221608200-221615000	Enhancers	Hela-S3	cervix
6	chr1:221608600-221612800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:221608600-221613800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:221609000-221612200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:221609000-221613800	Enhancers	Osteobl	bone
10	chr1:221609200-221612600	Weak transcription	HSMMtube	muscle
11	chr1:221609200-221612800	Weak transcription	NHLF	lung
12	chr1:221609200-221613400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:221609400-221612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:221609400-221612600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:221609400-221612800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:221609400-221613000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:221609400-221613000	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:221609600-221612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:221609600-221613400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:221609800-221613000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:221610200-221612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:221610600-221612800	Weak transcription	Fetal Lung	lung
23	chr1:221611000-221612400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:221611000-221613800	Enhancers	NH-A	brain
25	chr1:221611000-221615000	Enhancers	HSMM	muscle
26	chr1:221611200-221615000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:221611400-221611600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:221611400-221611600	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:221611400-221611600	Enhancers	Right Atrium	heart
30	chr1:221611400-221611600	Enhancers	A549	lung
31	chr1:221611400-221612000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:221611400-221612200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:221611400-221613600	Enhancers	NHEK	skin
34	chr1:221611400-221613800	Enhancers	NHDF-Ad	bronchial
35	chr1:221611400-221614000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:221611400-221615000	Enhancers	HUVEC	blood vessel
37	chr1:221611400-221615800	Enhancers	HMEC	breast

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