Variant report

Variant	rs1683196
Chromosome Location	chr12:42574953-42574954
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	chr12:42564661..42567448-chr12:42572481..42575392,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs701250	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs712107	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs712110	1.00[AFR][1000 genomes]
rs712111	1.00[AFR][1000 genomes]
rs712124	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs7299729	1.00[AFR][1000 genomes]
rs7306548	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs824719	0.85[YRI][hapmap]
rs824721	0.82[YRI][hapmap]
rs824740	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42539400-42577000	Weak transcription	Aorta	Aorta
2	chr12:42539400-42583200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:42539600-42578400	Weak transcription	Left Ventricle	heart
4	chr12:42539600-42586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:42539800-42582800	Weak transcription	Spleen	Spleen
6	chr12:42539800-42607800	Weak transcription	Pancreas	Pancrea
7	chr12:42547800-42610400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:42549400-42575000	Weak transcription	Brain Angular Gyrus	brain
9	chr12:42550600-42615800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:42552000-42604000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:42552200-42591200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:42552200-42613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:42552400-42620000	Weak transcription	Fetal Brain Female	brain
14	chr12:42552600-42578800	Weak transcription	Lung	lung
15	chr12:42553600-42590000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:42554000-42607600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:42554400-42578600	Weak transcription	Thymus	Thymus
18	chr12:42554600-42592200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:42555000-42628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:42555200-42575400	Weak transcription	NH-A	brain
21	chr12:42555200-42576400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:42555200-42586000	Weak transcription	Fetal Lung	lung
23	chr12:42555200-42590000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:42555400-42598000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:42555600-42586400	Weak transcription	Hela-S3	cervix
26	chr12:42556200-42578400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:42556600-42575000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:42556600-42578600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:42556800-42613200	Weak transcription	HMEC	breast
30	chr12:42557000-42581800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:42557000-42604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:42557200-42580400	Weak transcription	GM12878-XiMat	blood
33	chr12:42557200-42606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:42558000-42602400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:42561000-42580400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:42561400-42575000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:42563200-42608000	Weak transcription	Small Intestine	intestine
38	chr12:42565400-42587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:42566000-42588600	Weak transcription	Placenta	Placenta
40	chr12:42566400-42578400	Weak transcription	Liver	Liver
41	chr12:42567600-42575200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:42568400-42575000	Weak transcription	Psoas Muscle	Psoas
43	chr12:42568400-42580000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:42568400-42584400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:42568400-42623400	Weak transcription	K562	blood
46	chr12:42568600-42607800	Weak transcription	Right Ventricle	heart
47	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:42569200-42586400	Weak transcription	Fetal Kidney	kidney
49	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
50	chr12:42569800-42631000	Weak transcription	Gastric	stomach

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