Variant report

Variant	rs12317318
Chromosome Location	chr12:57781982-57781983
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57781288..57782817-chr12:57789392..57792172,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10083191	1.00[AMR][1000 genomes]
rs11172151	1.00[AMR][1000 genomes]
rs11172167	1.00[AMR][1000 genomes]
rs11172213	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172219	0.84[AFR][1000 genomes]
rs12296737	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310686	1.00[AMR][1000 genomes]
rs12312567	1.00[AMR][1000 genomes]
rs12312780	1.00[AMR][1000 genomes]
rs12312858	0.92[AFR][1000 genomes]
rs12314262	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315459	1.00[AMR][1000 genomes]
rs12316507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317897	1.00[AMR][1000 genomes]
rs12318999	1.00[AMR][1000 genomes]
rs12319006	1.00[AMR][1000 genomes]
rs12320772	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322514	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322636	1.00[AMR][1000 genomes]
rs13377950	1.00[AMR][1000 genomes]
rs17119482	1.00[AMR][1000 genomes]
rs34000745	1.00[AMR][1000 genomes]
rs34660894	1.00[AMR][1000 genomes]
rs35958371	1.00[AMR][1000 genomes]
rs9971718	0.88[AFR][1000 genomes];1.00[AMR][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	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv516655	chr12:57763520-57811414	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57695200-57794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:57704400-57789200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:57722800-57786200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:57731400-57789800	Weak transcription	Small Intestine	intestine
5	chr12:57731600-57796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:57736400-57784200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:57736400-57795000	Weak transcription	Right Ventricle	heart
8	chr12:57736600-57782000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:57736600-57782400	Weak transcription	HSMM	muscle
10	chr12:57736600-57782800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:57740400-57784000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:57741200-57782800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:57742400-57785800	Weak transcription	Fetal Brain Female	brain
14	chr12:57745000-57787800	Weak transcription	Placenta	Placenta
15	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
16	chr12:57761200-57787400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:57761400-57783600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:57761400-57789000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:57762200-57782600	Weak transcription	Hela-S3	cervix
20	chr12:57762800-57784200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:57762800-57784200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:57762800-57811800	Weak transcription	Pancreas	Pancrea
23	chr12:57763000-57782800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:57763000-57796800	Weak transcription	Colonic Mucosa	Colon
25	chr12:57763000-57799200	Weak transcription	Psoas Muscle	Psoas
26	chr12:57763000-57800400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:57763400-57785800	Weak transcription	Dnd41	blood
28	chr12:57763600-57783000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:57763600-57784200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:57764400-57782200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:57764800-57782200	Weak transcription	Left Ventricle	heart
32	chr12:57764800-57782200	Weak transcription	NH-A	brain
33	chr12:57765200-57789200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:57765600-57787000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:57766000-57787800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:57766200-57782200	Weak transcription	Ovary	ovary
37	chr12:57766200-57795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:57766200-57816000	Weak transcription	Fetal Lung	lung
39	chr12:57766400-57783600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:57766600-57782400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:57766600-57782600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:57766600-57786200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:57766800-57782000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:57766800-57782200	Weak transcription	Osteobl	bone
45	chr12:57766800-57783400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:57767000-57782200	Weak transcription	NHLF	lung
47	chr12:57768600-57790800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:57770200-57782200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:57770800-57782000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:57770800-57824000	Weak transcription	Gastric	stomach

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