Variant report

Variant	rs10083171
Chromosome Location	chr12:60109405-60109406
allele	G/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:21)

rs_ID	r²[population]
rs11173122	1.00[AMR][1000 genomes]
rs11173143	1.00[AMR][1000 genomes]
rs11173184	0.81[AFR][1000 genomes]
rs12296752	1.00[AMR][1000 genomes]
rs12298625	1.00[AMR][1000 genomes]
rs12300147	1.00[AMR][1000 genomes]
rs12301125	1.00[AMR][1000 genomes]
rs12306274	1.00[AMR][1000 genomes]
rs12307037	1.00[AMR][1000 genomes]
rs12307814	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310666	1.00[AMR][1000 genomes]
rs12315372	1.00[AMR][1000 genomes]
rs12316277	1.00[AMR][1000 genomes]
rs12317862	1.00[AMR][1000 genomes]
rs12318588	1.00[AMR][1000 genomes]
rs12321806	1.00[AMR][1000 genomes]
rs12322903	1.00[AMR][1000 genomes]
rs13377681	1.00[AMR][1000 genomes]
rs74094088	1.00[AMR][1000 genomes]
rs74094089	1.00[AMR][1000 genomes]
rs74094091	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv2829972	chr12:60079404-60111653	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60069600-60131400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:60089400-60126000	Weak transcription	Left Ventricle	heart
3	chr12:60093800-60109800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:60093800-60126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:60094000-60127200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:60094200-60127200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:60095400-60114400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:60097200-60109600	Weak transcription	Dnd41	blood
9	chr12:60098000-60117000	Weak transcription	Psoas Muscle	Psoas
10	chr12:60099200-60126600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:60099400-60130400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:60099600-60143200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:60100000-60175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:60100400-60126400	Weak transcription	Primary B cells from cord blood	blood
15	chr12:60100600-60127200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:60101800-60122000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:60102600-60111000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:60103400-60111600	Weak transcription	GM12878-XiMat	blood
19	chr12:60104200-60138000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:60105000-60111600	Weak transcription	Thymus	Thymus
21	chr12:60105000-60112200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:60105400-60111000	Weak transcription	Adipose Nuclei	Adipose
23	chr12:60105400-60111200	Weak transcription	Fetal Thymus	thymus
24	chr12:60105600-60110400	Weak transcription	Aorta	Aorta
25	chr12:60105600-60129200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:60106800-60117800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:60108800-60112600	Enhancers	Liver	Liver
28	chr12:60109200-60109800	Enhancers	Pancreas	Pancrea
29	chr12:60109200-60110200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:60109200-60111200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:60109400-60121800	Weak transcription	Right Ventricle	heart
32	chr12:60109400-60126600	Weak transcription	Primary T cells from cord blood	blood

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