Variant report

Variant	rs12706644
Chromosome Location	chr7:79772027-79772028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10486928	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11766554	0.82[CHB][hapmap]
rs11980616	0.82[CHB][hapmap]
rs13227898	0.89[AMR][1000 genomes]
rs13228071	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13236880	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17153487	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17153492	1.00[JPT][hapmap]
rs17153496	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2285755	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs67077197	0.89[AMR][1000 genomes]
rs6980462	0.82[CHB][hapmap]
rs73149535	0.98[EUR][1000 genomes];0.89[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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79765600-79775200	Weak transcription	Esophagus	oesophagus
2	chr7:79766000-79772600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:79766400-79774200	Weak transcription	Right Atrium	heart
4	chr7:79766400-79775000	Weak transcription	NH-A	brain
5	chr7:79766400-79775200	Weak transcription	Left Ventricle	heart
6	chr7:79767200-79775200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:79767200-79775200	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:79768400-79774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:79768400-79775200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:79768400-79775200	Weak transcription	Aorta	Aorta
11	chr7:79768600-79772200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:79768600-79780400	Weak transcription	Stomach Mucosa	stomach
13	chr7:79768800-79772200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:79768800-79772400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:79768800-79773000	Weak transcription	Fetal Stomach	stomach
16	chr7:79768800-79773200	Weak transcription	NHLF	lung
17	chr7:79768800-79773800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:79768800-79774200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:79768800-79774200	Weak transcription	Osteobl	bone
20	chr7:79768800-79774800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:79768800-79775000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:79768800-79775200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:79768800-79775200	Weak transcription	Ovary	ovary
24	chr7:79768800-79780200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:79768800-79780200	Weak transcription	Small Intestine	intestine
26	chr7:79769000-79772200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:79769000-79772200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:79769000-79773200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:79769000-79773600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:79769000-79774200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:79769000-79775000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:79769000-79775000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:79769000-79775000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:79769000-79775000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:79769000-79775200	Enhancers	Adipose Nuclei	Adipose
36	chr7:79769200-79772200	Weak transcription	Liver	Liver
37	chr7:79769200-79772200	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:79769200-79772200	Weak transcription	Fetal Brain Female	brain
39	chr7:79769200-79773200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:79769200-79773200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:79769200-79774600	Weak transcription	Hela-S3	cervix
42	chr7:79769600-79775600	Enhancers	Brain Substantia Nigra	brain
43	chr7:79770200-79774000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:79770200-79774200	Weak transcription	NHDF-Ad	bronchial
45	chr7:79770400-79775200	Weak transcription	HMEC	breast
46	chr7:79770600-79773800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:79770600-79775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:79770600-79775000	Enhancers	Fetal Lung	lung
49	chr7:79770600-79775000	Weak transcription	Gastric	stomach
50	chr7:79770600-79775400	Enhancers	Fetal Brain Male	brain

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