Variant report

Variant	rs11065298
Chromosome Location	chr12:121297105-121297106
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121293123..121296169-chr12:121296958..121300717,3	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10160872	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1027556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1039302	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs10431387	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10437838	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs10459142	0.87[ASN][1000 genomes]
rs10774568	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[YRI][hapmap]
rs10774569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10774570	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10774571	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10774573	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774575	0.87[ASN][1000 genomes]
rs10774576	0.87[ASN][1000 genomes]
rs10849786	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap]
rs10849788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap]
rs10849793	0.82[ASN][1000 genomes]
rs10849794	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10849800	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10849803	0.91[EUR][1000 genomes]
rs10849805	0.88[CEU][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849806	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849812	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849813	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849814	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10849815	0.83[ASN][1000 genomes]
rs10849816	0.83[ASN][1000 genomes]
rs11065259	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs11065272	0.81[ASN][1000 genomes]
rs11065313	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065319	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065320	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065321	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065322	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1151849	0.86[YRI][hapmap]
rs1151862	0.85[YRI][hapmap]
rs11829904	0.83[YRI][hapmap]
rs11833706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12231343	0.83[ASN][1000 genomes]
rs12310161	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12423697	0.83[EUR][1000 genomes]
rs13746	0.83[YRI][hapmap]
rs2049211	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2393718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3213568	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs3213569	1.00[CEU][hapmap]
rs3213571	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs34433264	0.84[ASN][1000 genomes]
rs3809314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs471688	0.87[YRI][hapmap]
rs531782	0.93[YRI][hapmap]
rs56137011	0.83[EUR][1000 genomes]
rs56161401	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs610694	0.86[YRI][hapmap]
rs624216	0.85[YRI][hapmap]
rs625228	0.93[YRI][hapmap]
rs6489780	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs6489781	0.82[ASN][1000 genomes]
rs6489782	1.00[CHB][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs7131886	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7135147	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs7139145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs715319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7296632	0.85[ASN][1000 genomes]
rs7298639	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7306083	0.86[EUR][1000 genomes]
rs7315439	0.95[ASN][1000 genomes]
rs7316450	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73224325	0.84[EUR][1000 genomes]
rs73229156	0.89[EUR][1000 genomes]
rs7954254	0.93[EUR][1000 genomes]
rs7965332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7977343	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121282000-121308600	Weak transcription	Fetal Kidney	kidney
2	chr12:121283200-121310200	Weak transcription	Placenta	Placenta
3	chr12:121283400-121307400	Weak transcription	Esophagus	oesophagus
4	chr12:121283600-121302200	Weak transcription	Lung	lung
5	chr12:121287800-121300400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:121288000-121300200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:121288000-121311800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:121288000-121316600	Weak transcription	NHLF	lung
9	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
10	chr12:121289800-121297800	Weak transcription	Ovary	ovary
11	chr12:121290000-121300200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:121290000-121302600	Weak transcription	Liver	Liver
13	chr12:121291600-121312400	Weak transcription	Gastric	stomach
14	chr12:121292000-121299200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:121292000-121312400	Weak transcription	Aorta	Aorta
16	chr12:121292400-121305600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:121292800-121303000	Weak transcription	Small Intestine	intestine
18	chr12:121293000-121302600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:121293000-121308200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:121293200-121300200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:121293600-121297200	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:121294200-121303000	Weak transcription	Left Ventricle	heart
23	chr12:121294200-121340400	Weak transcription	HSMM	muscle
24	chr12:121294600-121300200	Weak transcription	Psoas Muscle	Psoas
25	chr12:121294600-121310200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:121295000-121302600	Weak transcription	Brain Substantia Nigra	brain
27	chr12:121295000-121303000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:121295000-121303000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:121295000-121303000	Weak transcription	Thymus	Thymus
30	chr12:121295000-121310200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:121295000-121310200	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:121295000-121311000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:121295000-121316200	Weak transcription	HMEC	breast
34	chr12:121295200-121299000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:121295200-121304200	Weak transcription	Primary T cells from cord blood	blood
36	chr12:121295400-121297200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:121295400-121299400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:121295600-121302800	Weak transcription	Brain Angular Gyrus	brain
39	chr12:121295600-121304200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:121295600-121305200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:121295800-121300200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:121295800-121302600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:121295800-121302600	Weak transcription	Fetal Thymus	thymus
44	chr12:121295800-121307600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:121296000-121297200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:121296000-121297400	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr12:121296200-121297400	ZNF genes & repeats	A549	lung
48	chr12:121296200-121311000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:121296400-121297200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:121296400-121297400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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