Variant report

Variant	rs12314576
Chromosome Location	chr12:46333249-46333250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46329739..46331318-chr12:46332417..46334585,2	K562	blood:
2	chr12:46331019..46334796-chr12:46336326..46339137,4	K562	blood:
3	chr12:46331019..46333836-chr12:46336326..46339137,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10161536	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10506264	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11183248	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11574971	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12298184	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307979	1.00[AMR][1000 genomes]
rs15852	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61009645	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7304785	1.00[AMR][1000 genomes]
rs7306774	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310702	0.89[AMR][1000 genomes]
rs74081279	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74081280	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74081611	0.89[AMR][1000 genomes]
rs7965539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972499	0.82[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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr12:46299000-46381000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:46312200-46348600	Strong transcription	Dnd41	blood
3	chr12:46314600-46345600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:46316600-46343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:46317000-46341400	Weak transcription	Gastric	stomach
6	chr12:46318800-46338600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:46318800-46339200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:46319200-46341400	Weak transcription	Lung	lung
9	chr12:46319200-46362800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:46322400-46337400	Weak transcription	Fetal Brain Female	brain
11	chr12:46322600-46335200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:46322600-46338600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:46322600-46340000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:46322600-46341400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:46322600-46341400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:46322600-46341400	Weak transcription	Pancreas	Pancrea
17	chr12:46322600-46360200	Weak transcription	Fetal Brain Male	brain
18	chr12:46322800-46338600	Weak transcription	Esophagus	oesophagus
19	chr12:46323200-46341400	Weak transcription	Colonic Mucosa	Colon
20	chr12:46323200-46341400	Weak transcription	Fetal Stomach	stomach
21	chr12:46323200-46341400	Weak transcription	Spleen	Spleen
22	chr12:46324200-46334600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:46324400-46351600	Weak transcription	Psoas Muscle	Psoas
24	chr12:46324600-46333600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:46325000-46334400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:46325000-46335400	Weak transcription	Thymus	Thymus
27	chr12:46325000-46341400	Weak transcription	Left Ventricle	heart
28	chr12:46325200-46343400	Weak transcription	Right Ventricle	heart
29	chr12:46325600-46334600	Weak transcription	NHEK	skin
30	chr12:46325600-46334800	Weak transcription	Fetal Kidney	kidney
31	chr12:46325800-46333600	Weak transcription	Fetal Lung	lung
32	chr12:46325800-46333800	Weak transcription	HMEC	breast
33	chr12:46326200-46334200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:46326200-46334600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:46326200-46335200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:46326200-46335400	Weak transcription	NHLF	lung
37	chr12:46326600-46333600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:46326600-46334000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:46326600-46334600	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:46326600-46338400	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:46326600-46339400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:46326600-46360400	Weak transcription	Small Intestine	intestine
43	chr12:46326800-46336200	Weak transcription	K562	blood
44	chr12:46327000-46334000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:46327000-46334200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:46327000-46335600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:46327000-46337000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:46327200-46333600	Weak transcription	NH-A	brain
49	chr12:46327200-46335400	Weak transcription	HUVEC	blood vessel
50	chr12:46327200-46340600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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