Variant report

Variant	rs12314823
Chromosome Location	chr12:8895335-8895336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8895071..8897064-chr12:8901227..8903223,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10082851	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10082862	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129059	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046855	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046861	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046868	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046896	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046898	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046899	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046943	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047004	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047012	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047040	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047058	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047060	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047080	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047108	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047109	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11502439	1.00[EUR][1000 genomes]
rs12099874	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296102	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296587	0.83[AMR][1000 genomes]
rs12297411	1.00[EUR][1000 genomes]
rs12297919	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12298316	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299388	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300722	0.83[AMR][1000 genomes]
rs12300916	1.00[EUR][1000 genomes]
rs12307497	1.00[EUR][1000 genomes]
rs12309620	0.83[AMR][1000 genomes]
rs12311048	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12311105	1.00[EUR][1000 genomes]
rs12312707	1.00[EUR][1000 genomes]
rs12314072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315566	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318911	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319105	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319898	1.00[EUR][1000 genomes]
rs12320520	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321251	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322748	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28651596	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28812300	1.00[EUR][1000 genomes]
rs57750938	1.00[EUR][1000 genomes]
rs58191549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58704538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58777503	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59291561	1.00[EUR][1000 genomes]
rs59480189	1.00[EUR][1000 genomes]
rs59705800	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60389926	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60467762	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60925344	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61368791	1.00[EUR][1000 genomes]
rs7134750	1.00[EUR][1000 genomes]
rs7139182	1.00[EUR][1000 genomes]
rs7953439	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953800	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7963296	0.83[AMR][1000 genomes]
rs7979018	1.00[EUR][1000 genomes]
rs7980514	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9783460	1.00[EUR][1000 genomes]
rs9783480	1.00[EUR][1000 genomes]
rs9783524	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3508325	chr12:8892485-8900283	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3508323	chr12:8893035-8900233	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3495262	chr12:8893650-8899304	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3508324	chr12:8893696-8899275	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3508326	chr12:8893696-8899275	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3495273	chr12:8893759-8899180	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv436155	chr12:8893791-8899614	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv11649	chr12:8894895-8898914	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 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	chr12:8852800-8908600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:8853200-8934000	Weak transcription	K562	blood
3	chr12:8862400-8902400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:8862800-8905400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:8862800-8908000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:8866000-8896600	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:8868200-8905400	Weak transcription	Right Ventricle	heart
8	chr12:8872000-8896600	Weak transcription	HUVEC	blood vessel
9	chr12:8875800-8933200	Weak transcription	Fetal Kidney	kidney
10	chr12:8877600-8902600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:8877800-8904000	Weak transcription	Fetal Brain Male	brain
12	chr12:8878400-8904400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:8878400-8923600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:8878400-8937200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:8879800-8902400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:8882200-8902400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:8882200-8904800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:8882200-8938400	Weak transcription	Spleen	Spleen
19	chr12:8882200-8939400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:8882400-8902600	Weak transcription	Fetal Lung	lung
21	chr12:8882400-8904200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:8882400-8905800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:8882600-8903400	Weak transcription	Primary T cells from cord blood	blood
24	chr12:8883200-8903800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:8883200-8904600	Weak transcription	Fetal Brain Female	brain
26	chr12:8883400-8938800	Weak transcription	Primary B cells from cord blood	blood
27	chr12:8886600-8912200	Weak transcription	Small Intestine	intestine
28	chr12:8888800-8932000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:8889200-8896400	Weak transcription	Brain Anterior Caudate	brain
30	chr12:8889200-8917400	Weak transcription	Fetal Heart	heart
31	chr12:8889200-8935800	Weak transcription	A549	lung
32	chr12:8889200-8936600	Weak transcription	Brain Angular Gyrus	brain
33	chr12:8889600-8895400	Weak transcription	Aorta	Aorta
34	chr12:8889600-8903200	Weak transcription	Ovary	ovary
35	chr12:8890400-8911000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:8890600-8937000	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:8892800-8896000	Weak transcription	Brain Germinal Matrix	brain
38	chr12:8892800-8902200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:8892800-8902200	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:8893000-8901200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:8893200-8902600	Weak transcription	Fetal Thymus	thymus
42	chr12:8893400-8902600	Weak transcription	Placenta	Placenta
43	chr12:8893600-8901400	Weak transcription	Fetal Intestine Small	intestine
44	chr12:8893600-8905000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:8893800-8911000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:8894200-8937800	Weak transcription	Esophagus	oesophagus
47	chr12:8894400-8907200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:8894400-8920800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:8894600-8896600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:8894800-8895600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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