Variant report

Variant	rs12320772
Chromosome Location	chr12:57766212-57766213
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57763659..57766790-chr12:57770165..57773896,3	K562	blood:
2	chr12:57762333..57763849-chr12:57764785..57767656,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10083191	1.00[AMR][1000 genomes]
rs11172151	1.00[AMR][1000 genomes]
rs11172167	1.00[AMR][1000 genomes]
rs11172213	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296737	1.00[AMR][1000 genomes]
rs12299952	0.84[AFR][1000 genomes]
rs12310527	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310686	1.00[AMR][1000 genomes]
rs12312567	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312780	1.00[AMR][1000 genomes]
rs12312858	0.84[AFR][1000 genomes]
rs12314262	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315459	1.00[AMR][1000 genomes]
rs12316507	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317897	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318999	1.00[AMR][1000 genomes]
rs12319006	1.00[AMR][1000 genomes]
rs12322158	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322514	0.84[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]
rs3024944	1.00[AMR][1000 genomes]
rs34000745	1.00[AMR][1000 genomes]
rs34660894	1.00[AMR][1000 genomes]
rs35827450	0.83[AFR][1000 genomes]
rs35958371	1.00[AMR][1000 genomes]
rs9971718	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57694000-57780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:57695200-57794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:57704400-57789200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:57722800-57771200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:57722800-57786200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:57728000-57766600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:57731400-57789800	Weak transcription	Small Intestine	intestine
8	chr12:57731600-57796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:57732800-57771800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:57734200-57779400	Weak transcription	Spleen	Spleen
11	chr12:57736400-57784200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:57736400-57795000	Weak transcription	Right Ventricle	heart
13	chr12:57736600-57782000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:57736600-57782400	Weak transcription	HSMM	muscle
15	chr12:57736600-57782800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:57740400-57784000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:57741200-57782800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:57742400-57785800	Weak transcription	Fetal Brain Female	brain
19	chr12:57745000-57787800	Weak transcription	Placenta	Placenta
20	chr12:57745400-57772200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
22	chr12:57755800-57770000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:57756600-57771000	Weak transcription	K562	blood
24	chr12:57760200-57769800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:57760200-57769800	Weak transcription	Fetal Stomach	stomach
26	chr12:57760400-57769000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:57760400-57769800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:57760400-57775600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:57761000-57766800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:57761000-57775800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:57761200-57779400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:57761200-57787400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:57761400-57769800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:57761400-57772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:57761400-57778200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:57761400-57778400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:57761400-57780400	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:57761400-57783600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:57761400-57789000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:57761800-57769800	Weak transcription	Primary T cells from cord blood	blood
41	chr12:57762200-57782600	Weak transcription	Hela-S3	cervix
42	chr12:57762400-57778200	Weak transcription	Fetal Kidney	kidney
43	chr12:57762600-57769600	Weak transcription	Primary B cells from cord blood	blood
44	chr12:57762800-57784200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:57762800-57784200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:57762800-57811800	Weak transcription	Pancreas	Pancrea
47	chr12:57763000-57782800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:57763000-57796800	Weak transcription	Colonic Mucosa	Colon
49	chr12:57763000-57799200	Weak transcription	Psoas Muscle	Psoas
50	chr12:57763000-57800400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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