Variant report

Variant	rs2729635
Chromosome Location	chr12:26192595-26192596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10459081	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10771250	0.90[CHB][hapmap]
rs10771255	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10842651	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs10842655	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10842658	0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10842659	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048363	0.90[CHB][hapmap]
rs12369462	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1513124	0.90[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1874351	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1986802	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1994995	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2251618	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2271483	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2643927	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2643930	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2643933	1.00[YRI][hapmap]
rs2729631	0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2729634	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61247260	0.81[ASN][1000 genomes]
rs6487522	0.90[CHB][hapmap]
rs7132820	0.86[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136804	0.90[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7137379	0.95[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs7138742	0.82[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap]
rs7139241	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7295585	0.81[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7299421	0.82[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7956992	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs7963754	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7969486	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7979763	0.90[CHB][hapmap]

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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26180800-26195000	Weak transcription	HSMM	muscle
2	chr12:26181000-26195200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:26182200-26195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:26186000-26200400	Weak transcription	Right Ventricle	heart
5	chr12:26186200-26193400	Weak transcription	Fetal Lung	lung
6	chr12:26186200-26195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:26187000-26193200	Weak transcription	Esophagus	oesophagus
8	chr12:26187200-26193200	Weak transcription	Lung	lung
9	chr12:26187200-26195800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:26187200-26196200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:26187200-26200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:26187800-26194800	Weak transcription	HUVEC	blood vessel
13	chr12:26188000-26193200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:26188000-26194600	Weak transcription	Osteobl	bone
15	chr12:26188000-26195200	Weak transcription	Fetal Kidney	kidney
16	chr12:26188200-26194600	Weak transcription	NHDF-Ad	bronchial
17	chr12:26188200-26194800	Weak transcription	NH-A	brain
18	chr12:26188800-26194000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:26189000-26193800	Enhancers	Fetal Intestine Small	intestine
20	chr12:26189200-26194800	Weak transcription	Hela-S3	cervix
21	chr12:26190600-26192800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:26190600-26192800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:26190800-26193600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:26191000-26192600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:26191000-26193200	Weak transcription	Aorta	Aorta
26	chr12:26191000-26193200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:26191000-26193200	Weak transcription	Pancreas	Pancrea
28	chr12:26191000-26193600	Enhancers	Brain Anterior Caudate	brain
29	chr12:26191000-26195000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:26191000-26195400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:26191000-26196000	Weak transcription	Ovary	ovary
32	chr12:26191200-26193200	Weak transcription	Left Ventricle	heart
33	chr12:26191200-26195000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:26191200-26195000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:26191200-26195200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:26191400-26194600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:26191400-26195800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:26191400-26196000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:26192000-26192600	Enhancers	Right Atrium	heart
40	chr12:26192000-26193000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:26192200-26195000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:26192400-26192600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr12:26192400-26192800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:26192400-26193600	Enhancers	Brain Angular Gyrus	brain
45	chr12:26192400-26193600	Enhancers	Brain Cingulate Gyrus	brain
46	chr12:26192400-26193600	Enhancers	Brain Substantia Nigra	brain
47	chr12:26192400-26194600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:26192400-26195000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:26192400-26195000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:26192400-26195200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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