Variant report

Variant	rs2136250
Chromosome Location	chr16:12219411-12219412
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12192648..12195630-chr16:12219371..12221424,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11075054	0.95[ASN][1000 genomes]
rs11642033	0.91[ASN][1000 genomes]
rs11646458	0.86[ASN][1000 genomes]
rs11646539	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11646584	0.91[ASN][1000 genomes]
rs11647572	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12596703	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12599107	0.90[ASN][1000 genomes]
rs12599793	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12708747	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12924889	0.91[ASN][1000 genomes]
rs12929519	0.91[ASN][1000 genomes]
rs13333662	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175020	1.00[ASN][1000 genomes]
rs34098770	0.89[ASN][1000 genomes]
rs34147612	0.81[ASN][1000 genomes]
rs34598762	0.81[ASN][1000 genomes]
rs35293822	0.97[ASN][1000 genomes]
rs35542345	0.91[ASN][1000 genomes]
rs3851013	1.00[ASN][1000 genomes]
rs3851014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862466	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3893358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9935284	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9936270	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv977111	chr16:12161129-12220593	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv571460	chr16:12181702-12238602	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1052973	chr16:12188092-12307880	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1042146	chr16:12208242-12256699	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12184400-12231200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:12189800-12220400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr16:12190000-12220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:12190000-12220400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr16:12191200-12223200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr16:12198200-12227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr16:12200200-12220200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr16:12204800-12222000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr16:12208000-12221200	Weak transcription	Brain Substantia Nigra	brain
10	chr16:12208200-12228000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr16:12208600-12226800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:12211000-12224400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:12211000-12227800	Weak transcription	Fetal Intestine Small	intestine
14	chr16:12211200-12221400	Weak transcription	GM12878-XiMat	blood
15	chr16:12211200-12223200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:12211200-12223400	Weak transcription	Aorta	Aorta
17	chr16:12211200-12224400	Weak transcription	Pancreas	Pancrea
18	chr16:12211200-12226200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:12213000-12221400	Weak transcription	Primary T cells from cord blood	blood
20	chr16:12213200-12232600	Weak transcription	Colonic Mucosa	Colon
21	chr16:12213800-12226600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr16:12213800-12228200	Weak transcription	Lung	lung
23	chr16:12213800-12228400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr16:12213800-12231400	Weak transcription	Small Intestine	intestine
25	chr16:12213800-12255400	Weak transcription	Gastric	stomach
26	chr16:12214000-12221600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:12214000-12221600	Weak transcription	Adipose Nuclei	Adipose
28	chr16:12214000-12226400	Weak transcription	HSMM	muscle
29	chr16:12214000-12228000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:12214200-12221200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:12214400-12224600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:12214600-12220000	Weak transcription	HMEC	breast
33	chr16:12214600-12224200	Weak transcription	Brain Angular Gyrus	brain
34	chr16:12214800-12221600	Weak transcription	HSMMtube	muscle
35	chr16:12215000-12219600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:12215000-12219600	Weak transcription	NHEK	skin
37	chr16:12215000-12226800	Weak transcription	Ovary	ovary
38	chr16:12215000-12227600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr16:12215000-12227800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr16:12215000-12228200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:12215000-12233200	Weak transcription	Fetal Lung	lung
42	chr16:12215200-12221400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:12215200-12221400	Weak transcription	Right Atrium	heart
44	chr16:12215200-12221600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:12215200-12229200	Weak transcription	NHDF-Ad	bronchial
46	chr16:12215400-12221800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:12215400-12222600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:12215400-12228000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:12215400-12228200	Weak transcription	Left Ventricle	heart
50	chr16:12215400-12231000	Weak transcription	HepG2	liver

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