Variant report

Variant	rs12300582
Chromosome Location	chr12:67828108-67828109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67827399..67830001-chr12:67831925..67834912,2	MCF-7	breast:
2	chr12:67803758..67807464-chr12:67826851..67830325,3	K562	blood:
3	chr12:67822502..67824353-chr12:67826994..67828756,2	MCF-7	breast:
4	chr12:67822398..67825852-chr12:67826641..67830656,5	MCF-7	breast:
5	chr12:67824554..67829846-chr12:68041224..68045203,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction

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];0.92[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]
rs12303089	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];0.92[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67817800-67830600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr12:67818600-67832000	Enhancers	Fetal Intestine Large	intestine
3	chr12:67819600-67831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:67820000-67828600	Weak transcription	Pancreas	Pancrea
5	chr12:67820000-67828800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:67820200-67829000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:67821400-67830600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr12:67824200-67828600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:67824800-67828800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:67824800-67829000	Weak transcription	Placenta	Placenta
11	chr12:67825400-67828200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:67825400-67828600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:67825400-67828600	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:67825400-67829000	Weak transcription	Fetal Stomach	stomach
15	chr12:67825400-67829800	Weak transcription	Colonic Mucosa	Colon
16	chr12:67825400-67835200	Weak transcription	Ovary	ovary
17	chr12:67825600-67828200	Weak transcription	Liver	Liver
18	chr12:67825600-67828200	Weak transcription	Fetal Heart	heart
19	chr12:67825600-67828600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:67825600-67835400	Weak transcription	Fetal Kidney	kidney
21	chr12:67825800-67828600	Weak transcription	Fetal Lung	lung
22	chr12:67825800-67828600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:67826000-67829800	Weak transcription	Psoas Muscle	Psoas
24	chr12:67826400-67831200	Enhancers	NHLF	lung
25	chr12:67826600-67835200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:67827200-67828200	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:67827200-67828400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:67827200-67828400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:67827200-67828600	Enhancers	NHDF-Ad	bronchial
30	chr12:67827200-67829000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:67827200-67829200	Enhancers	GM12878-XiMat	blood
32	chr12:67827200-67829600	Enhancers	HMEC	breast
33	chr12:67827200-67830200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr12:67827200-67830600	Enhancers	Fetal Intestine Small	intestine
35	chr12:67827200-67830800	Enhancers	NH-A	brain
36	chr12:67827200-67831000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:67827200-67831000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr12:67827200-67831200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:67827400-67828400	Enhancers	Osteobl	bone
40	chr12:67827400-67828600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:67827400-67828800	Enhancers	HepG2	liver
42	chr12:67827400-67830000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:67827400-67830200	Enhancers	Duodenum Mucosa	Duodenum
44	chr12:67827400-67831200	Enhancers	HSMM	muscle
45	chr12:67827400-67831400	Enhancers	HSMMtube	muscle
46	chr12:67827600-67828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:67827600-67828800	Enhancers	Adipose Nuclei	Adipose
48	chr12:67827600-67828800	Enhancers	Right Ventricle	heart
49	chr12:67827600-67829400	Enhancers	Colon Smooth Muscle	Colon
50	chr12:67827600-67830400	Enhancers	Stomach Mucosa	stomach

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