Variant report

Variant	rs4763827
Chromosome Location	chr12:12582377-12582378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12580312..12582996-chr12:12648127..12650612,2	MCF-7	breast:
2	chr12:12578734..12582406-chr12:12583548..12588483,5	MCF-7	breast:
3	chr12:12568811..12571740-chr12:12581902..12583634,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11831188	1.00[ASN][1000 genomes]
rs11831555	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16908006	1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16908019	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17312912	1.00[JPT][hapmap]
rs1861674	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193270	0.84[AFR][1000 genomes]
rs4763288	1.00[JPT][hapmap]
rs4763289	1.00[JPT][hapmap]
rs4763824	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4763828	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4763831	0.81[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56261569	0.81[ASN][1000 genomes]
rs58218344	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58529509	1.00[ASN][1000 genomes]
rs60022096	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60363317	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60971404	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6488521	1.00[ASN][1000 genomes]
rs6488523	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6488524	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6488527	1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7133988	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134787	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714480	1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7306292	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73287587	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957014	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7973069	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975061	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978842	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980390	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs888198	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12558000-12586000	Weak transcription	Pancreas	Pancrea
2	chr12:12565200-12585000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:12572600-12588400	Weak transcription	Primary T cells from cord blood	blood
4	chr12:12577400-12582600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:12577600-12583800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:12577800-12584000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:12578200-12588600	Weak transcription	Primary B cells from cord blood	blood
8	chr12:12578400-12586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:12578400-12588200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:12578800-12586200	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:12578800-12589200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:12579000-12582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:12579000-12583400	Weak transcription	NHLF	lung
14	chr12:12579000-12583800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:12579200-12582600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:12579200-12582600	Weak transcription	HSMM	muscle
17	chr12:12579200-12585200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:12579400-12585000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:12579400-12587000	Weak transcription	Psoas Muscle	Psoas
20	chr12:12579600-12583800	Weak transcription	Fetal Stomach	stomach
21	chr12:12579600-12585200	Weak transcription	Stomach Mucosa	stomach
22	chr12:12579600-12586600	Weak transcription	Fetal Intestine Large	intestine
23	chr12:12580000-12588600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:12580200-12583800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:12580400-12582400	Enhancers	HepG2	liver
26	chr12:12580600-12582600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:12580600-12583000	Enhancers	GM12878-XiMat	blood
28	chr12:12580600-12583200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:12580600-12584400	Enhancers	HMEC	breast
30	chr12:12580800-12583400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:12580800-12587400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:12581000-12586000	Weak transcription	Esophagus	oesophagus
33	chr12:12581200-12582800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr12:12581200-12587000	Enhancers	NHEK	skin
35	chr12:12581400-12582600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:12581600-12582600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:12581600-12582800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:12581600-12588800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:12581800-12582800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:12581800-12583000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr12:12581800-12583200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:12581800-12583200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:12582000-12582600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:12582000-12582600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:12582000-12582600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:12582000-12582600	Enhancers	Osteobl	bone
47	chr12:12582000-12583000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:12582000-12583000	Enhancers	Placenta	Placenta
49	chr12:12582000-12583000	Enhancers	HSMMtube	muscle
50	chr12:12582000-12589200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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