Variant report

Variant	rs12310527
Chromosome Location	chr12:57773456-57773457
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	chr12:57712669..57714928-chr12:57772261..57773947,2	K562	blood:
2	chr12:57763659..57766790-chr12:57770165..57773896,3	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[YRI][hapmap];1.00[AMR][1000 genomes]
rs11172151	1.00[AMR][1000 genomes]
rs11172167	1.00[YRI][hapmap];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]
rs12310686	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12312567	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs12312780	1.00[ASW][hapmap];0.83[LWK][hapmap];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]
rs12317318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317897	1.00[YRI][hapmap];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	1.00[YRI][hapmap];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]
rs3024944	1.00[AMR][1000 genomes]
rs34000745	1.00[AMR][1000 genomes]
rs34660894	1.00[AMR][1000 genomes]
rs35827450	0.83[LWK][hapmap]
rs35958371	1.00[AMR][1000 genomes]
rs9971718	1.00[ASW][hapmap];0.94[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];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:95 , 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	chr12:57722800-57786200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:57731400-57789800	Weak transcription	Small Intestine	intestine
6	chr12:57731600-57796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:57734200-57779400	Weak transcription	Spleen	Spleen
8	chr12:57736400-57784200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:57736400-57795000	Weak transcription	Right Ventricle	heart
10	chr12:57736600-57782000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:57736600-57782400	Weak transcription	HSMM	muscle
12	chr12:57736600-57782800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:57740400-57784000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:57741200-57782800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:57742400-57785800	Weak transcription	Fetal Brain Female	brain
16	chr12:57745000-57787800	Weak transcription	Placenta	Placenta
17	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
18	chr12:57760400-57775600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:57761000-57775800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:57761200-57779400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:57761200-57787400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:57761400-57778200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:57761400-57778400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:57761400-57780400	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:57761400-57783600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:57761400-57789000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:57762200-57782600	Weak transcription	Hela-S3	cervix
28	chr12:57762400-57778200	Weak transcription	Fetal Kidney	kidney
29	chr12:57762800-57784200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:57762800-57784200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:57762800-57811800	Weak transcription	Pancreas	Pancrea
32	chr12:57763000-57782800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:57763000-57796800	Weak transcription	Colonic Mucosa	Colon
34	chr12:57763000-57799200	Weak transcription	Psoas Muscle	Psoas
35	chr12:57763000-57800400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:57763400-57785800	Weak transcription	Dnd41	blood
37	chr12:57763600-57783000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:57763600-57784200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:57764200-57779400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:57764400-57782200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:57764800-57782200	Weak transcription	Left Ventricle	heart
42	chr12:57764800-57782200	Weak transcription	NH-A	brain
43	chr12:57765200-57789200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:57765400-57780000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:57765600-57787000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:57766000-57787800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:57766200-57782200	Weak transcription	Ovary	ovary
48	chr12:57766200-57795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:57766200-57816000	Weak transcription	Fetal Lung	lung
50	chr12:57766400-57783600	Weak transcription	Brain Cingulate Gyrus	brain

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