Variant report

Variant	rs11068246
Chromosome Location	chr12:117373731-117373732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117369008..117371802-chr12:117372806..117375152,2	K562	blood:
2	chr12:117373255..117375339-chr12:117377275..117379604,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1032528	0.93[EUR][1000 genomes]
rs1051879	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11068255	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11836743	0.80[EUR][1000 genomes]
rs12099584	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12308592	1.00[AMR][1000 genomes]
rs12313248	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12316811	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318749	1.00[CEU][hapmap]
rs12321592	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947046	1.00[CEU][hapmap]
rs16947122	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947131	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947144	0.86[EUR][1000 genomes]
rs16947209	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947233	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4094199	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41364651	1.00[EUR][1000 genomes]
rs4451816	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57135901	0.86[EUR][1000 genomes]
rs58882507	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59373313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59623332	0.80[EUR][1000 genomes]
rs60272946	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61178788	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61207925	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61288722	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7133142	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7133609	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7136880	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7302713	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7305313	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7314897	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs73395566	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395571	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395601	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397424	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397478	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397488	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73399480	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73399483	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73399502	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7958175	0.80[EUR][1000 genomes]
rs7959860	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7963012	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs884273	1.00[CEU][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	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:117363400-117375200	Weak transcription	HMEC	breast
6	chr12:117363400-117381000	Weak transcription	NHEK	skin
7	chr12:117363400-117381400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
9	chr12:117363600-117375000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:117363800-117374000	Weak transcription	Thymus	Thymus
11	chr12:117364800-117374000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:117365000-117383200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:117365000-117383400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:117365800-117381200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:117365800-117383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:117366000-117375600	Strong transcription	Primary T cells from cord blood	blood
18	chr12:117366200-117377600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:117366600-117374000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:117366600-117374000	Weak transcription	NHDF-Ad	bronchial
21	chr12:117366600-117381000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:117366600-117381200	Weak transcription	Liver	Liver
23	chr12:117366600-117381400	Weak transcription	Aorta	Aorta
24	chr12:117366600-117383200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:117366600-117388400	Weak transcription	K562	blood
26	chr12:117367000-117373800	Weak transcription	Gastric	stomach
27	chr12:117367000-117374000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:117367000-117380000	Weak transcription	Fetal Thymus	thymus
29	chr12:117367200-117373800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:117367200-117373800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:117367200-117373800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:117367200-117374000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:117367200-117374000	Weak transcription	Lung	lung
34	chr12:117367200-117374000	Weak transcription	NHLF	lung
35	chr12:117367200-117379200	Weak transcription	Spleen	Spleen
36	chr12:117367800-117382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:117368000-117374000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:117368000-117379800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:117368000-117381200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:117368000-117383200	Weak transcription	Hela-S3	cervix
41	chr12:117368000-117383400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:117368200-117376400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:117368200-117383000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:117368400-117373800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:117368800-117381400	Weak transcription	Adipose Nuclei	Adipose
46	chr12:117369000-117373800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:117369000-117373800	Weak transcription	Placenta	Placenta
48	chr12:117369200-117376400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:117369600-117374000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:117369600-117374400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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