Variant report

Variant	rs2729634
Chromosome Location	chr12:26180181-26180182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26179146..26181652-chr12:26265259..26267157,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10431215	0.85[ASN][1000 genomes]
rs10459081	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10771255	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10842651	0.81[ASN][1000 genomes]
rs10842655	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10842658	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10842659	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11048370	0.81[ASN][1000 genomes]
rs11048374	0.87[ASN][1000 genomes]
rs12369462	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513124	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1874351	0.98[ASN][1000 genomes]
rs1986802	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1994995	0.85[ASN][1000 genomes]
rs2251618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271483	0.82[EUR][1000 genomes]
rs2643927	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2643930	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2643933	0.85[ASN][1000 genomes]
rs2729631	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2729635	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61247260	0.93[ASN][1000 genomes]
rs7132820	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7136804	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7137379	0.87[ASN][1000 genomes]
rs7139241	0.81[ASN][1000 genomes]
rs7295585	0.82[ASN][1000 genomes]
rs7299421	0.82[ASN][1000 genomes]
rs7315752	0.91[ASN][1000 genomes]
rs7956992	0.85[ASN][1000 genomes]
rs7963754	0.87[ASN][1000 genomes]
rs7969486	0.85[ASN][1000 genomes]
rs7971906	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26167400-26180600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:26169400-26185400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:26169600-26182000	Weak transcription	NHLF	lung
4	chr12:26170800-26181600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:26170800-26182000	Weak transcription	Pancreas	Pancrea
6	chr12:26170800-26185600	Weak transcription	Aorta	Aorta
7	chr12:26171000-26182000	Weak transcription	HUVEC	blood vessel
8	chr12:26171000-26183800	Weak transcription	Hela-S3	cervix
9	chr12:26171000-26190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:26172000-26182000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:26172200-26180200	Weak transcription	NH-A	brain
12	chr12:26172200-26180400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:26172200-26181800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:26173400-26186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:26174200-26180600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:26174600-26182000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:26174600-26185600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:26174800-26181800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:26174800-26182000	Weak transcription	Right Atrium	heart
20	chr12:26174800-26185600	Weak transcription	Ovary	ovary
21	chr12:26175000-26180800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:26175000-26181400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:26175000-26181800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:26175000-26190600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:26175000-26191000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:26175200-26182000	Weak transcription	Brain Anterior Caudate	brain
27	chr12:26175200-26186800	Weak transcription	Psoas Muscle	Psoas
28	chr12:26175200-26190800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:26175400-26180200	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:26175400-26180400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:26175400-26180600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:26175400-26180800	Weak transcription	Brain Angular Gyrus	brain
33	chr12:26175400-26180800	Weak transcription	Brain Substantia Nigra	brain
34	chr12:26175400-26181800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:26175400-26185800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:26175400-26190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:26176000-26184200	Weak transcription	Left Ventricle	heart
38	chr12:26178200-26181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:26179000-26180400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:26179600-26180600	Weak transcription	Small Intestine	intestine
41	chr12:26179600-26180800	Enhancers	Fetal Intestine Small	intestine
42	chr12:26179800-26186000	Enhancers	Colon Smooth Muscle	Colon
43	chr12:26180000-26180200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:26180000-26180400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:26180000-26181000	Enhancers	Osteobl	bone
46	chr12:26180000-26182000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:26180000-26182400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:26180000-26188200	Enhancers	NHDF-Ad	bronchial

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