Variant report

Variant	rs12303089
Chromosome Location	chr12:67824502-67824503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67824090..67825052-chr12:67835259..67836288,4	MCF-7	breast:
2	chr12:67822398..67825852-chr12:67826641..67830656,5	MCF-7	breast:
3	chr12:67824150..67825044-chr12:68331354..68332021,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10128823	1.00[EUR][1000 genomes]
rs10129028	1.00[EUR][1000 genomes]
rs11176672	1.00[EUR][1000 genomes]
rs11176676	1.00[EUR][1000 genomes]
rs11176679	1.00[EUR][1000 genomes]
rs11176684	1.00[EUR][1000 genomes]
rs11176691	1.00[EUR][1000 genomes]
rs11176692	1.00[EUR][1000 genomes]
rs11176693	1.00[EUR][1000 genomes]
rs11176694	1.00[EUR][1000 genomes]
rs11176715	1.00[EUR][1000 genomes]
rs11176740	0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176784	1.00[EUR][1000 genomes]
rs11503726	1.00[EUR][1000 genomes]
rs12297966	1.00[EUR][1000 genomes]
rs12299042	1.00[EUR][1000 genomes]
rs12299097	1.00[EUR][1000 genomes]
rs12300582	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12306375	1.00[EUR][1000 genomes]
rs12307363	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307464	1.00[EUR][1000 genomes]
rs12311491	1.00[EUR][1000 genomes]
rs12311797	1.00[EUR][1000 genomes]
rs12311840	1.00[EUR][1000 genomes]
rs12311845	1.00[EUR][1000 genomes]
rs12312040	1.00[EUR][1000 genomes]
rs12313282	1.00[EUR][1000 genomes]
rs12314503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315624	1.00[EUR][1000 genomes]
rs12318518	1.00[EUR][1000 genomes]
rs12318591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318995	1.00[EUR][1000 genomes]
rs12320566	1.00[EUR][1000 genomes]
rs12321292	1.00[EUR][1000 genomes]
rs12321396	1.00[EUR][1000 genomes]
rs12322901	1.00[EUR][1000 genomes]
rs17103652	1.00[EUR][1000 genomes]
rs17103772	1.00[EUR][1000 genomes]
rs17120707	1.00[EUR][1000 genomes]
rs17120710	1.00[EUR][1000 genomes]
rs4083304	1.00[EUR][1000 genomes]
rs57886620	1.00[EUR][1000 genomes]
rs61504642	1.00[EUR][1000 genomes]
rs6581751	1.00[EUR][1000 genomes]
rs7135195	1.00[EUR][1000 genomes]
rs7138362	1.00[EUR][1000 genomes]
rs7294827	1.00[EUR][1000 genomes]
rs7306853	1.00[EUR][1000 genomes]
rs7307643	1.00[EUR][1000 genomes]
rs7312079	1.00[EUR][1000 genomes]
rs73320752	1.00[EUR][1000 genomes]
rs73322616	1.00[EUR][1000 genomes]
rs73326445	1.00[EUR][1000 genomes]
rs73326448	1.00[EUR][1000 genomes]
rs73326466	1.00[EUR][1000 genomes]
rs7954999	1.00[EUR][1000 genomes]
rs7964763	1.00[EUR][1000 genomes]
rs7966031	1.00[EUR][1000 genomes]
rs7977574	1.00[EUR][1000 genomes]
rs9989007	1.00[EUR][1000 genomes]
rs9989023	1.00[EUR][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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67817800-67830600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr12:67818600-67827000	Enhancers	Fetal Intestine Small	intestine
3	chr12:67818600-67832000	Enhancers	Fetal Intestine Large	intestine
4	chr12:67819600-67825400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr12:67819600-67831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:67820000-67828600	Weak transcription	Pancreas	Pancrea
7	chr12:67820000-67828800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:67820200-67829000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:67820600-67824600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:67820600-67824800	Weak transcription	Fetal Heart	heart
11	chr12:67820600-67825200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:67821000-67826000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:67821400-67830600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr12:67821800-67824800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:67822000-67825000	Weak transcription	Colonic Mucosa	Colon
16	chr12:67822000-67827200	Weak transcription	GM12878-XiMat	blood
17	chr12:67822200-67824600	Weak transcription	HSMMtube	muscle
18	chr12:67822200-67825000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:67822200-67827600	Weak transcription	Small Intestine	intestine
20	chr12:67822400-67824800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:67822400-67827200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:67822400-67827600	Weak transcription	Stomach Mucosa	stomach
23	chr12:67822800-67824800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:67822800-67824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:67823000-67824800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:67823000-67827200	Weak transcription	HMEC	breast
27	chr12:67823000-67827200	Weak transcription	NHEK	skin
28	chr12:67823200-67827400	Weak transcription	HepG2	liver
29	chr12:67823400-67825400	Enhancers	Fetal Stomach	stomach
30	chr12:67823400-67825400	Enhancers	Ovary	ovary
31	chr12:67823400-67825600	Enhancers	Fetal Kidney	kidney
32	chr12:67823800-67825000	Enhancers	Aorta	Aorta
33	chr12:67824000-67824800	Enhancers	Placenta	Placenta
34	chr12:67824000-67825200	Enhancers	Fetal Lung	lung
35	chr12:67824000-67825600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr12:67824000-67825800	Enhancers	NHDF-Ad	bronchial
37	chr12:67824000-67826000	Enhancers	Psoas Muscle	Psoas
38	chr12:67824000-67826000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:67824200-67824800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:67824200-67824800	Enhancers	Brain Angular Gyrus	brain
41	chr12:67824200-67824800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr12:67824200-67825400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:67824200-67825400	Enhancers	Fetal Muscle Leg	muscle
44	chr12:67824200-67825600	Enhancers	Liver	Liver
45	chr12:67824200-67828600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:67824400-67824800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:67824400-67824800	Weak transcription	NHLF	lung
48	chr12:67824400-67825400	Enhancers	Adipose Nuclei	Adipose

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