Variant report

Variant	rs2729637
Chromosome Location	chr12:26192915-26192916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2669556	1.00[YRI][hapmap]
rs2669557	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2669569	1.00[YRI][hapmap]
rs2669570	1.00[YRI][hapmap]
rs2729650	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs706534	1.00[YRI][hapmap]
rs73300874	1.00[AFR][1000 genomes]
rs73300880	1.00[AFR][1000 genomes]
rs829982	0.85[YRI][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:57 , 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	chr12:26190800-26193600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:26191000-26193200	Weak transcription	Aorta	Aorta
23	chr12:26191000-26193200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:26191000-26193200	Weak transcription	Pancreas	Pancrea
25	chr12:26191000-26193600	Enhancers	Brain Anterior Caudate	brain
26	chr12:26191000-26195000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:26191000-26195400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:26191000-26196000	Weak transcription	Ovary	ovary
29	chr12:26191200-26193200	Weak transcription	Left Ventricle	heart
30	chr12:26191200-26195000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:26191200-26195000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:26191200-26195200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:26191400-26194600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:26191400-26195800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:26191400-26196000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:26192000-26193000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:26192200-26195000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:26192400-26193600	Enhancers	Brain Angular Gyrus	brain
39	chr12:26192400-26193600	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:26192400-26193600	Enhancers	Brain Substantia Nigra	brain
41	chr12:26192400-26194600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:26192400-26195000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:26192400-26195000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:26192400-26195200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:26192400-26195200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:26192400-26195200	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:26192400-26195800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:26192400-26195800	Weak transcription	Psoas Muscle	Psoas
49	chr12:26192400-26195800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:26192400-26195800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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