Variant report

Variant	rs17122995
Chromosome Location	chr12:60170302-60170303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11173154	0.85[AFR][1000 genomes]
rs12296723	0.86[AFR][1000 genomes]
rs12300901	0.85[AFR][1000 genomes]
rs12307550	0.86[AFR][1000 genomes]
rs12312017	0.81[AFR][1000 genomes]
rs12317292	0.89[AFR][1000 genomes]
rs58060278	0.93[AFR][1000 genomes]
rs7966802	0.86[AFR][1000 genomes]
rs7971766	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899133	chr12:60135504-60202218	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv899135	chr12:60156046-60228610	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559101	chr12:60164408-60202218	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv559102	chr12:60164408-60221898	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv275119	chr12:60169887-60176579	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60100000-60175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:60130800-60172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:60131000-60186000	Weak transcription	Pancreas	Pancrea
4	chr12:60138800-60173200	Weak transcription	Aorta	Aorta
5	chr12:60152000-60182200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:60159000-60172000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:60159800-60186400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:60160400-60186000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:60161200-60181600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:60161200-60186800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:60161400-60176400	Weak transcription	GM12878-XiMat	blood
12	chr12:60161600-60176400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:60161800-60186000	Weak transcription	Lung	lung
14	chr12:60162600-60175000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:60162600-60186000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:60162800-60184000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:60162800-60186000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:60163800-60174400	Weak transcription	NHDF-Ad	bronchial
19	chr12:60164400-60174600	Weak transcription	Fetal Thymus	thymus
20	chr12:60166600-60177000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:60167000-60177400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:60167400-60170400	Weak transcription	Gastric	stomach
23	chr12:60167800-60177400	Weak transcription	Ovary	ovary
24	chr12:60169200-60172600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:60169200-60173000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:60169200-60175800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:60169200-60178000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:60169200-60178200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:60169200-60187000	Weak transcription	Primary B cells from cord blood	blood
30	chr12:60169400-60171000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:60169400-60173200	Weak transcription	Left Ventricle	heart
32	chr12:60169400-60174400	Weak transcription	Adipose Nuclei	Adipose
33	chr12:60169400-60174800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:60169400-60187600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:60169400-60189200	Weak transcription	Dnd41	blood
36	chr12:60170200-60174400	Weak transcription	Primary T cells from cord blood	blood

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