Variant report

Variant	rs17122807
Chromosome Location	chr12:60059856-60059857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1497473	0.86[CEU][hapmap]
rs17122680	0.85[CEU][hapmap];0.91[AMR][1000 genomes]
rs17122682	0.85[CEU][hapmap];0.83[AMR][1000 genomes]
rs17122685	0.85[CEU][hapmap];0.91[AMR][1000 genomes]
rs17122687	0.85[CEU][hapmap]
rs17122689	0.85[CEU][hapmap];0.83[AMR][1000 genomes]
rs17122718	0.85[CEU][hapmap];0.83[AMR][1000 genomes]
rs17122739	0.85[CEU][hapmap];0.91[AMR][1000 genomes]
rs17122757	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs17122764	1.00[CEU][hapmap]
rs17122766	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs17122781	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs17122783	1.00[CEU][hapmap]
rs17122785	1.00[CEU][hapmap]
rs17122790	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs17122791	1.00[CEU][hapmap]
rs17122795	1.00[CEU][hapmap]
rs17122823	0.87[CEU][hapmap]
rs17122827	0.87[CEU][hapmap]
rs17122830	0.86[CEU][hapmap]
rs17122837	0.87[CEU][hapmap]
rs17122838	0.87[CEU][hapmap]
rs17122843	0.87[CEU][hapmap]
rs17122846	0.87[CEU][hapmap]
rs17122849	0.87[CEU][hapmap]
rs17122850	0.87[CEU][hapmap]
rs2711669	0.85[CEU][hapmap]
rs972132	0.85[CEU][hapmap];0.83[AMR][1000 genomes]
rs982321	1.00[CEU][hapmap]

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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60026600-60089200	Weak transcription	Gastric	stomach
2	chr12:60029600-60063200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:60034000-60061600	Weak transcription	Aorta	Aorta
4	chr12:60045600-60061600	Weak transcription	Pancreas	Pancrea
5	chr12:60045600-60071800	Weak transcription	Ovary	ovary
6	chr12:60045800-60085400	Weak transcription	NHDF-Ad	bronchial
7	chr12:60045800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:60050000-60068600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:60050400-60060200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:60050400-60060400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:60050600-60060200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:60050600-60060400	Weak transcription	Primary T cells from cord blood	blood
13	chr12:60050600-60060600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:60050800-60060400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:60050800-60098600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:60051800-60060000	Weak transcription	Primary B cells from cord blood	blood
17	chr12:60052200-60060400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:60055400-60071000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:60055800-60060000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:60056600-60060000	Weak transcription	GM12878-XiMat	blood
21	chr12:60058400-60060000	Active TSS	Right Atrium	heart
22	chr12:60058400-60062200	Active TSS	Adipose Nuclei	Adipose
23	chr12:60058600-60060600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:60058800-60061400	Weak transcription	Left Ventricle	heart
25	chr12:60058800-60080200	Weak transcription	Fetal Heart	heart
26	chr12:60059400-60071600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:60059600-60061400	Weak transcription	Esophagus	oesophagus
28	chr12:60059800-60071800	Weak transcription	Psoas Muscle	Psoas

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