Variant report

Variant	rs12207527
Chromosome Location	chr6:144072118-144072119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144071724..144073521-chr6:144074905..144077250,2	MCF-7	breast:
2	chr6:144071732..144074823-chr6:144075904..144078859,3	MCF-7	breast:
3	chr6:144071798..144073720-chr6:144082492..144084536,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10484829	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11155321	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11155323	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11752220	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11962678	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12197846	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12208670	0.96[CEU][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12216126	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1342330	0.84[JPT][hapmap]
rs1342331	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17521652	0.85[CHB][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1935497	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2235995	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273211	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2281405	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3818113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55935224	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72556977	0.82[AMR][1000 genomes]
rs72556986	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs736784	0.88[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736785	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9403528	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv5513	chr6:144068006-144102028	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv7974	chr6:144070793-144073093	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144038600-144075400	Weak transcription	NHEK	skin
2	chr6:144046200-144074600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:144053400-144076600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:144053600-144073600	Weak transcription	Osteobl	bone
5	chr6:144053600-144075400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:144053600-144075600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:144053800-144079800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:144056200-144080200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:144059800-144077000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:144060200-144078400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:144060600-144074600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:144060800-144074400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:144061000-144079800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:144061000-144086600	Weak transcription	Primary T cells from cord blood	blood
15	chr6:144063000-144075400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:144063600-144076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:144063800-144075000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:144063800-144086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:144064400-144074400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr6:144064600-144076800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:144064800-144075400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:144064800-144086600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:144066400-144076400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:144066600-144075400	Weak transcription	Liver	Liver
25	chr6:144066600-144081000	Weak transcription	Esophagus	oesophagus
26	chr6:144066800-144080600	Weak transcription	Spleen	Spleen
27	chr6:144067000-144075800	Weak transcription	HUVEC	blood vessel
28	chr6:144067000-144076400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:144067000-144077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:144067000-144081000	Weak transcription	Brain Angular Gyrus	brain
31	chr6:144067000-144083000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:144067200-144073800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:144067400-144072200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:144067400-144076400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:144067400-144078400	Weak transcription	NHDF-Ad	bronchial
36	chr6:144067600-144087400	Weak transcription	NH-A	brain
37	chr6:144067800-144072800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:144067800-144072800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:144067800-144076000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:144067800-144076400	Weak transcription	Lung	lung
41	chr6:144067800-144076800	Weak transcription	HSMMtube	muscle
42	chr6:144067800-144077000	Weak transcription	HSMM	muscle
43	chr6:144067800-144078400	Weak transcription	Adipose Nuclei	Adipose
44	chr6:144067800-144086400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:144067800-144095400	Weak transcription	NHLF	lung
46	chr6:144067800-144122000	Weak transcription	Colonic Mucosa	Colon
47	chr6:144068000-144086400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:144068200-144078400	Weak transcription	Fetal Kidney	kidney
49	chr6:144068600-144072200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:144068600-144072600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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