Variant report

Variant	rs12318649
Chromosome Location	chr12:57128248-57128249
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	chr12:57127883..57130911-chr12:57131858..57134742,3	K562	blood:
2	chr12:57118147..57119882-chr12:57127881..57129587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196531	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11171953	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171963	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171964	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11172028	1.00[EUR][1000 genomes]
rs11172032	1.00[EUR][1000 genomes]
rs11172040	1.00[EUR][1000 genomes]
rs11172041	1.00[EUR][1000 genomes]
rs11514185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299402	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302242	1.00[EUR][1000 genomes]
rs12306275	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317052	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2657914	1.00[EUR][1000 genomes]
rs55935220	1.00[EUR][1000 genomes]
rs57115078	1.00[EUR][1000 genomes]
rs57173883	1.00[AMR][1000 genomes]
rs58416798	1.00[EUR][1000 genomes]
rs60396573	1.00[AMR][1000 genomes]
rs61633783	1.00[EUR][1000 genomes]
rs73326629	1.00[EUR][1000 genomes]
rs73326643	1.00[EUR][1000 genomes]
rs73326652	1.00[EUR][1000 genomes]
rs73326663	1.00[EUR][1000 genomes]
rs73326665	1.00[EUR][1000 genomes]
rs73326670	1.00[EUR][1000 genomes]
rs73326673	1.00[EUR][1000 genomes]
rs73326688	1.00[EUR][1000 genomes]
rs73326690	1.00[EUR][1000 genomes]
rs73326692	1.00[EUR][1000 genomes]
rs73326697	1.00[EUR][1000 genomes]
rs73326698	1.00[EUR][1000 genomes]
rs73337089	1.00[EUR][1000 genomes]
rs73337095	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337101	1.00[EUR][1000 genomes]
rs73338912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338962	1.00[AMR][1000 genomes]
rs73338975	1.00[AMR][1000 genomes]
rs73338977	1.00[AMR][1000 genomes]
rs73338999	1.00[AMR][1000 genomes]
rs73341007	1.00[AMR][1000 genomes]
rs74093933	1.00[EUR][1000 genomes]
rs74093937	1.00[EUR][1000 genomes]
rs74093946	1.00[EUR][1000 genomes]
rs74093947	1.00[EUR][1000 genomes]
rs9919706	1.00[EUR][1000 genomes]
rs9919771	1.00[EUR][1000 genomes]
rs9919774	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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57119200-57130400	Weak transcription	Gastric	stomach
2	chr12:57119400-57129000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:57119400-57130600	Weak transcription	Small Intestine	intestine
4	chr12:57119400-57134000	Weak transcription	Esophagus	oesophagus
5	chr12:57119400-57138000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:57119400-57145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:57119600-57128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:57119600-57129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:57119600-57130600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:57119600-57130600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:57119600-57130600	Weak transcription	Lung	lung
12	chr12:57119600-57130600	Weak transcription	Pancreas	Pancrea
13	chr12:57119800-57128800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:57119800-57130400	Weak transcription	Ovary	ovary
15	chr12:57119800-57131800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:57119800-57134000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:57119800-57134000	Weak transcription	Left Ventricle	heart
18	chr12:57119800-57144600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:57119800-57144800	Weak transcription	NHLF	lung
20	chr12:57119800-57145000	Weak transcription	Colonic Mucosa	Colon
21	chr12:57119800-57145000	Weak transcription	Right Ventricle	heart
22	chr12:57120000-57129200	Weak transcription	Fetal Intestine Large	intestine
23	chr12:57120000-57130400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:57120000-57130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:57120000-57130400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:57120000-57130600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:57120000-57130600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:57120000-57130800	Weak transcription	Placenta	Placenta
29	chr12:57120000-57130800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:57120000-57131600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:57120000-57131600	Weak transcription	Brain Substantia Nigra	brain
32	chr12:57120000-57133200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:57120000-57134200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:57120000-57134200	Weak transcription	Brain Angular Gyrus	brain
35	chr12:57120000-57134800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:57120000-57137200	Weak transcription	NHEK	skin
37	chr12:57120000-57138400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:57120000-57140400	Weak transcription	HUVEC	blood vessel
39	chr12:57120000-57144400	Weak transcription	Fetal Brain Male	brain
40	chr12:57120000-57144600	Weak transcription	NHDF-Ad	bronchial
41	chr12:57120000-57144800	Weak transcription	Fetal Heart	heart
42	chr12:57120000-57144800	Weak transcription	Fetal Kidney	kidney
43	chr12:57120000-57144800	Weak transcription	NH-A	brain
44	chr12:57120000-57145000	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:57120000-57145200	Weak transcription	Aorta	Aorta
46	chr12:57120200-57130600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:57120200-57137800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:57120200-57144800	Weak transcription	Osteobl	bone
49	chr12:57120200-57145000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:57120400-57144000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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