Variant report

Variant	rs12538512
Chromosome Location	chr7:129393372-129393373
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12535925	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12537627	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537713	0.81[EUR][1000 genomes]
rs12540281	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233824	0.86[CHB][hapmap]
rs13239849	0.81[EUR][1000 genomes]
rs13241028	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13246347	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806626	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2402974	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34783564	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35240725	0.81[EUR][1000 genomes]
rs35343997	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35629686	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731610	1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731611	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731613	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731618	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59675752	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62489293	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62489334	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71583713	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71583720	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	esv1813824	chr7:129379450-129424461	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
2	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
3	nsv516024	chr7:129387380-129444951	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129351600-129394800	Weak transcription	Hela-S3	cervix
2	chr7:129360600-129394800	Weak transcription	Small Intestine	intestine
3	chr7:129364200-129397600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:129366800-129399400	Weak transcription	Fetal Kidney	kidney
5	chr7:129369600-129399400	Weak transcription	Fetal Brain Male	brain
6	chr7:129372200-129397800	Weak transcription	NH-A	brain
7	chr7:129372400-129398800	Weak transcription	NHLF	lung
8	chr7:129374600-129394800	Weak transcription	Gastric	stomach
9	chr7:129375000-129394800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:129375000-129395400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:129376600-129397200	Strong transcription	Dnd41	blood
12	chr7:129379800-129400400	Weak transcription	HSMM	muscle
13	chr7:129380000-129394800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:129380000-129397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:129380000-129406600	Weak transcription	HSMMtube	muscle
16	chr7:129380400-129394800	Weak transcription	A549	lung
17	chr7:129380800-129397800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:129381800-129404200	Weak transcription	HepG2	liver
19	chr7:129381800-129415600	Weak transcription	Pancreas	Pancrea
20	chr7:129382000-129398400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:129382400-129394800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:129382400-129395400	Weak transcription	Right Ventricle	heart
23	chr7:129382400-129395800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:129382400-129396200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:129382400-129408600	Weak transcription	Right Atrium	heart
26	chr7:129382400-129408800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:129382600-129407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:129382800-129394800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:129382800-129411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:129383400-129395200	Weak transcription	Brain Angular Gyrus	brain
31	chr7:129383400-129395800	Weak transcription	Brain Anterior Caudate	brain
32	chr7:129383400-129398400	Weak transcription	Brain Substantia Nigra	brain
33	chr7:129383600-129394800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:129383800-129396000	Weak transcription	HUVEC	blood vessel
35	chr7:129383800-129401000	Weak transcription	Osteobl	bone
36	chr7:129384200-129394800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:129384800-129394800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:129384800-129394800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:129384800-129394800	Weak transcription	Ovary	ovary
40	chr7:129385400-129399200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:129385600-129394800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:129385600-129395600	Weak transcription	Psoas Muscle	Psoas
43	chr7:129386400-129397200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:129387200-129394800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:129387200-129394800	Weak transcription	Aorta	Aorta
46	chr7:129387200-129394800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:129387200-129394800	Weak transcription	Esophagus	oesophagus
48	chr7:129387200-129394800	Weak transcription	Left Ventricle	heart
49	chr7:129387200-129398400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:129387400-129394800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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