Variant report

Variant	rs12208670
Chromosome Location	chr6:144064167-144064168
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144063490..144065500-chr6:144068197..144069773,2	K562	blood:
2	chr6:144060296..144062270-chr6:144062738..144065749,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10484829	1.00[ASW][hapmap];0.89[CEU][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11155321	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11155323	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11752220	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11962678	0.96[CEU][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs12197846	0.96[CEU][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes]
rs12207527	0.96[CEU][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12216126	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1342330	0.81[AMR][1000 genomes]
rs1342331	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521652	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1935497	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs2235995	0.85[CEU][hapmap];0.82[CHB][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2273211	0.96[CEU][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes]
rs2281405	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3818113	1.00[ASW][hapmap];0.96[CEU][hapmap];0.88[GIH][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55767626	0.81[AMR][1000 genomes]
rs55935224	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59307773	0.85[ASN][1000 genomes]
rs72556977	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72556986	0.97[EUR][1000 genomes]
rs736784	1.00[ASW][hapmap];0.84[CEU][hapmap];0.87[GIH][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs736785	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7738780	0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs9321941	0.82[MEX][hapmap]
rs9403528	0.82[MEX][hapmap];0.81[AMR][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	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144022800-144064200	Weak transcription	NH-A	brain
2	chr6:144038600-144075400	Weak transcription	NHEK	skin
3	chr6:144046000-144064200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:144046200-144074600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:144047400-144065000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:144047800-144064200	Weak transcription	Fetal Intestine Large	intestine
7	chr6:144053400-144076600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:144053600-144073600	Weak transcription	Osteobl	bone
9	chr6:144053600-144075400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:144053600-144075600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:144053800-144079800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:144056000-144065600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:144056000-144067600	Weak transcription	K562	blood
14	chr6:144056200-144064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:144056200-144080200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:144056800-144065600	Weak transcription	HUVEC	blood vessel
17	chr6:144057400-144064200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:144058000-144064400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:144059800-144077000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:144060000-144066400	Weak transcription	Fetal Brain Female	brain
21	chr6:144060200-144065200	Enhancers	Placenta	Placenta
22	chr6:144060200-144078400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:144060600-144074600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:144060800-144074400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:144061000-144079800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:144061000-144086600	Weak transcription	Primary T cells from cord blood	blood
27	chr6:144061200-144064600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:144061400-144064600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:144061400-144064800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:144061800-144064400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:144062400-144064800	Weak transcription	Colonic Mucosa	Colon
32	chr6:144062800-144066400	Enhancers	Stomach Mucosa	stomach
33	chr6:144063000-144075400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:144063200-144064200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:144063200-144064600	Enhancers	Right Atrium	heart
36	chr6:144063200-144065600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:144063200-144066200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr6:144063400-144064200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:144063400-144064200	Enhancers	Adipose Nuclei	Adipose
40	chr6:144063400-144064200	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:144063400-144064200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr6:144063400-144064400	Enhancers	HepG2	liver
43	chr6:144063400-144064600	Enhancers	Colon Smooth Muscle	Colon
44	chr6:144063400-144064600	Enhancers	NHDF-Ad	bronchial
45	chr6:144063400-144064800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr6:144063400-144065600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:144063400-144065600	Enhancers	Duodenum Mucosa	Duodenum
48	chr6:144063400-144066400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:144063400-144066400	Enhancers	Fetal Stomach	stomach
50	chr6:144063400-144066600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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