Variant report

Variant	rs11047004
Chromosome Location	chr12:8893444-8893445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10082862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046869	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046888	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046943	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047012	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047039	0.88[AFR][1000 genomes]
rs11047040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047058	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047060	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047080	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11502439	1.00[EUR][1000 genomes]
rs12099874	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296102	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297411	1.00[EUR][1000 genomes]
rs12297919	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12298316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299388	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300722	1.00[AMR][1000 genomes]
rs12300916	1.00[EUR][1000 genomes]
rs12307497	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12309620	1.00[AMR][1000 genomes]
rs12311048	1.00[EUR][1000 genomes]
rs12311105	1.00[EUR][1000 genomes]
rs12312707	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12314072	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314823	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318911	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319105	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319898	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12320520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320578	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321251	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28651596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28812300	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57750938	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58191549	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58704538	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58777503	1.00[EUR][1000 genomes]
rs59291561	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59480189	1.00[EUR][1000 genomes]
rs59705800	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60389926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60467762	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60925344	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61368791	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7134750	1.00[EUR][1000 genomes]
rs7139182	1.00[EUR][1000 genomes]
rs7953439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953800	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7963296	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7979018	1.00[EUR][1000 genomes]
rs7980514	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9783460	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9783480	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9783524	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv973018	chr12:8892884-8895253	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

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	chr12:8862400-8894800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:8862400-8895000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:8862400-8902400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:8862600-8894800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:8862800-8905400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:8862800-8908000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:8865000-8895200	Weak transcription	Psoas Muscle	Psoas
10	chr12:8866000-8895000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:8866000-8896600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:8868200-8905400	Weak transcription	Right Ventricle	heart
13	chr12:8872000-8896600	Weak transcription	HUVEC	blood vessel
14	chr12:8874200-8894800	Weak transcription	HSMM	muscle
15	chr12:8875600-8894800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:8875600-8895000	Weak transcription	HSMMtube	muscle
17	chr12:8875800-8933200	Weak transcription	Fetal Kidney	kidney
18	chr12:8877600-8902600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:8877800-8894800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:8877800-8904000	Weak transcription	Fetal Brain Male	brain
21	chr12:8878400-8904400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:8878400-8923600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:8878400-8937200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:8879800-8894800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:8879800-8902400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:8882200-8895000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:8882200-8895000	Weak transcription	Fetal Intestine Large	intestine
28	chr12:8882200-8895000	Weak transcription	Lung	lung
29	chr12:8882200-8895200	Weak transcription	Thymus	Thymus
30	chr12:8882200-8902400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:8882200-8904800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:8882200-8938400	Weak transcription	Spleen	Spleen
33	chr12:8882200-8939400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:8882400-8895000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:8882400-8902600	Weak transcription	Fetal Lung	lung
36	chr12:8882400-8904200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:8882400-8905800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:8882600-8894800	Weak transcription	Dnd41	blood
39	chr12:8882600-8895000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:8882600-8903400	Weak transcription	Primary T cells from cord blood	blood
41	chr12:8883200-8903800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:8883200-8904600	Weak transcription	Fetal Brain Female	brain
43	chr12:8883400-8938800	Weak transcription	Primary B cells from cord blood	blood
44	chr12:8883600-8895000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:8886600-8912200	Weak transcription	Small Intestine	intestine
46	chr12:8887600-8895000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:8887800-8894800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:8888200-8895000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:8888200-8895200	Weak transcription	Right Atrium	heart
50	chr12:8888600-8895000	Weak transcription	Adipose Nuclei	Adipose

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