Variant report

Variant	rs11068245
Chromosome Location	chr12:117371087-117371088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117364974..117366703-chr12:117369746..117372327,2	MCF-7	breast:
2	chr12:117369008..117371802-chr12:117372806..117375152,2	K562	blood:
3	chr12:117369126..117371183-chr12:117378864..117381589,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10507277	0.81[CHB][hapmap]
rs10774892	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs10850743	0.87[CHB][hapmap]
rs10850744	0.81[CHB][hapmap]
rs11068247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068258	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068259	1.00[CEU][hapmap]
rs11068262	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068280	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs11068282	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068294	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11068296	0.81[CHB][hapmap]
rs11068310	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12368874	1.00[CEU][hapmap]
rs12371218	1.00[CEU][hapmap]
rs17583145	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17616662	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2133684	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2242469	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2270792	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2270793	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap]
rs2291912	1.00[JPT][hapmap]
rs2393110	0.83[ASN][1000 genomes]
rs3782189	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap]
rs3782190	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap]
rs3803089	0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4347476	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766814	0.81[ASN][1000 genomes]
rs4766815	0.81[ASN][1000 genomes]
rs4766820	0.81[CHB][hapmap]
rs4766821	0.81[CHB][hapmap]
rs4767476	0.82[ASN][1000 genomes]
rs6490102	0.81[CHB][hapmap]
rs7133066	0.81[CHB][hapmap]
rs7136629	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7297446	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs7298447	0.81[CHB][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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
2	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
3	chr12:117358800-117374000	Weak transcription	Colonic Mucosa	Colon
4	chr12:117363200-117371200	Weak transcription	Stomach Mucosa	stomach
5	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:117363400-117373400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:117363400-117375200	Weak transcription	HMEC	breast
8	chr12:117363400-117381000	Weak transcription	NHEK	skin
9	chr12:117363400-117381400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
11	chr12:117363600-117375000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:117363800-117374000	Weak transcription	Thymus	Thymus
13	chr12:117364000-117371800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:117364000-117372000	Strong transcription	Primary B cells from cord blood	blood
15	chr12:117364200-117372600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:117364800-117372800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:117364800-117374000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:117365000-117383200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:117365000-117383400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:117365200-117371200	Weak transcription	Brain Angular Gyrus	brain
22	chr12:117365600-117372000	Weak transcription	Right Atrium	heart
23	chr12:117365800-117381200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:117365800-117383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:117366000-117375600	Strong transcription	Primary T cells from cord blood	blood
26	chr12:117366200-117377600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:117366600-117373000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:117366600-117373400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:117366600-117374000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:117366600-117374000	Weak transcription	NHDF-Ad	bronchial
31	chr12:117366600-117381000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:117366600-117381200	Weak transcription	Liver	Liver
33	chr12:117366600-117381400	Weak transcription	Aorta	Aorta
34	chr12:117366600-117383200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:117366600-117388400	Weak transcription	K562	blood
36	chr12:117367000-117371800	Weak transcription	HSMMtube	muscle
37	chr12:117367000-117372000	Weak transcription	Pancreas	Pancrea
38	chr12:117367000-117373600	Weak transcription	Fetal Intestine Small	intestine
39	chr12:117367000-117373800	Weak transcription	Gastric	stomach
40	chr12:117367000-117374000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:117367000-117380000	Weak transcription	Fetal Thymus	thymus
42	chr12:117367200-117372600	Weak transcription	Left Ventricle	heart
43	chr12:117367200-117373800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:117367200-117373800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:117367200-117373800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:117367200-117374000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:117367200-117374000	Weak transcription	Lung	lung
48	chr12:117367200-117374000	Weak transcription	NHLF	lung
49	chr12:117367200-117379200	Weak transcription	Spleen	Spleen
50	chr12:117367800-117372600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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