Variant report

Variant	rs7015049
Chromosome Location	chr8:58982991-58982992
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10089259	0.85[CEU][hapmap]
rs10096582	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs10110195	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10957030	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108188	0.85[CEU][hapmap]
rs11774174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780747	0.88[TSI][hapmap]
rs11781102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997733	0.85[CEU][hapmap]
rs11998721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16918702	1.00[MEX][hapmap]
rs16922937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923081	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs16923114	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28508605	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288562	1.00[ASN][1000 genomes]
rs57550641	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58595014	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59166085	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60139253	1.00[ASN][1000 genomes]
rs61521318	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs6989882	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236447	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236448	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236451	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236452	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236455	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236458	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236461	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236476	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236481	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236484	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236488	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73236490	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73241723	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73682130	1.00[ASN][1000 genomes]
rs73682133	1.00[ASN][1000 genomes]
rs73682134	1.00[ASN][1000 genomes]
rs73682136	1.00[ASN][1000 genomes]
rs73682137	1.00[ASN][1000 genomes]
rs73682138	1.00[ASN][1000 genomes]
rs73682140	1.00[ASN][1000 genomes]
rs73682141	1.00[ASN][1000 genomes]
rs73682142	1.00[ASN][1000 genomes]
rs7812600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813490	0.85[CEU][hapmap]
rs7816440	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7828423	0.85[CEU][hapmap];0.88[TSI][hapmap]
rs7832353	0.85[CEU][hapmap]
rs884135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1803360	chr8:58976889-58986166	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
3	chr8:58979400-58999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:58979600-58988600	Weak transcription	Lung	lung
5	chr8:58980200-58984000	Weak transcription	Pancreas	Pancrea
6	chr8:58980200-58988800	Weak transcription	Placenta	Placenta
7	chr8:58980400-58991400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:58980400-58994400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:58980600-58984000	Weak transcription	Stomach Mucosa	stomach
10	chr8:58980600-58988800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:58980600-58999600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:58980800-58983000	Weak transcription	Fetal Stomach	stomach
13	chr8:58980800-58984400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:58980800-58989200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:58980800-58991600	Weak transcription	Osteobl	bone
16	chr8:58980800-58992000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:58981200-58983000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:58981200-58983200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:58981200-58984000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:58981200-58988800	Weak transcription	Ovary	ovary
21	chr8:58981200-58989600	Weak transcription	NHLF	lung
22	chr8:58981400-58983000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:58981400-58983800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:58981400-58985800	Weak transcription	Liver	Liver
25	chr8:58982000-58983000	Weak transcription	Fetal Lung	lung
26	chr8:58982000-58984000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:58982200-58986600	Weak transcription	HepG2	liver
28	chr8:58982400-58983200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:58982400-58984600	Active TSS	Brain Angular Gyrus	brain
30	chr8:58982600-58983000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:58982600-58983000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:58982600-58983000	Flanking Active TSS	Fetal Brain Male	brain
33	chr8:58982600-58983000	Active TSS	Stomach Smooth Muscle	stomach
34	chr8:58982600-58983200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:58982600-58983200	Active TSS	Brain Hippocampus Middle	brain
36	chr8:58982600-58983200	Enhancers	Spleen	Spleen
37	chr8:58982600-58983200	Flanking Active TSS	HSMM	muscle
38	chr8:58982600-58983400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:58982600-58983400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr8:58982600-58984000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:58982600-58984200	Active TSS	Fetal Brain Female	brain
42	chr8:58982600-58984400	Active TSS	Brain Cingulate Gyrus	brain
43	chr8:58982600-58984400	Enhancers	Colon Smooth Muscle	Colon
44	chr8:58982600-58984400	Active TSS	Psoas Muscle	Psoas
45	chr8:58982600-58984400	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr8:58982600-58984600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:58982600-58984800	Active TSS	Left Ventricle	heart
48	chr8:58982800-58983000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:58982800-58983000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:58982800-58983000	Flanking Active TSS	Fetal Kidney	kidney

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