Variant report

Variant	rs7140980
Chromosome Location	chr14:31209027-31209028
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31204344..31206042-chr14:31207737..31209935,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10131312	0.91[EUR][1000 genomes]
rs10139188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs10140887	0.97[EUR][1000 genomes]
rs10143215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs10143362	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs10148858	0.91[EUR][1000 genomes]
rs10149721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483365	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs11622971	0.88[EUR][1000 genomes]
rs11624441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs11628284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1548257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17096955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs17097068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17097075	1.00[CHB][hapmap]
rs17097077	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs17097124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17348844	0.91[EUR][1000 genomes]
rs17364127	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2106101	1.00[ASN][1000 genomes]
rs2124159	1.00[EUR][1000 genomes]
rs2273516	1.00[ASN][1000 genomes]
rs2273517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229140	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs229165	1.00[EUR][1000 genomes]
rs229203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs229204	1.00[EUR][1000 genomes]
rs229229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs229230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs229238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs229239	0.91[EUR][1000 genomes]
rs229242	0.91[EUR][1000 genomes]
rs229256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs2301547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs230342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs230344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs230345	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs230349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs230350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs230354	0.94[EUR][1000 genomes]
rs230357	1.00[EUR][1000 genomes]
rs230365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs28435745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28662978	0.94[EUR][1000 genomes]
rs28679478	0.91[EUR][1000 genomes]
rs392101	1.00[EUR][1000 genomes]
rs455614	1.00[EUR][1000 genomes]
rs4981073	0.88[EUR][1000 genomes]
rs4981075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs4981763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs4981769	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57057168	1.00[EUR][1000 genomes]
rs60495706	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571360	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147237	0.91[EUR][1000 genomes]
rs7152647	0.88[EUR][1000 genomes]
rs7156485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158970	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs7160985	0.91[EUR][1000 genomes]
rs7161321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011610	0.88[EUR][1000 genomes]
rs8012506	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8014225	0.94[EUR][1000 genomes]
rs880979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:31166400-31214200	Weak transcription	Pancreas	Pancrea
4	chr14:31196400-31216800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:31199400-31213400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:31205800-31209200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:31206000-31210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:31206000-31210200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:31206000-31213000	Weak transcription	HSMMtube	muscle
10	chr14:31206200-31209200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:31206200-31209200	Weak transcription	HepG2	liver
12	chr14:31206200-31209400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:31206200-31209600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:31206200-31209800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:31206200-31209800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:31206200-31210000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:31206200-31210000	Weak transcription	Osteobl	bone
18	chr14:31206200-31210400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:31206200-31212800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:31206200-31212800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:31206200-31216600	Weak transcription	Brain Anterior Caudate	brain
22	chr14:31206400-31210800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:31206400-31211400	Weak transcription	Adipose Nuclei	Adipose
24	chr14:31206600-31210400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:31207000-31209600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:31208200-31210400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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