Variant report

Variant	rs28651596
Chromosome Location	chr12:8936408-8936409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:8936362-8937564	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:8935634-8939732	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000249790	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047060	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047108	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297411	1.00[EUR][1000 genomes]
rs12297919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12298316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300722	1.00[AMR][1000 genomes]
rs12300916	1.00[EUR][1000 genomes]
rs12307497	1.00[EUR][1000 genomes]
rs12309620	1.00[AMR][1000 genomes]
rs12311048	1.00[EUR][1000 genomes]
rs12311105	1.00[EUR][1000 genomes]
rs12312707	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319898	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28812300	1.00[EUR][1000 genomes]
rs57750938	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	1.00[EUR][1000 genomes]
rs59480189	1.00[EUR][1000 genomes]
rs59705800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60389926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60467762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60925344	1.00[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7963296	1.00[AMR][1000 genomes]
rs7979018	1.00[EUR][1000 genomes]
rs7980514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9783460	1.00[EUR][1000 genomes]
rs9783480	1.00[EUR][1000 genomes]
rs9783524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34096	chr12:8927520-8968810	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8878400-8937200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:8882200-8938400	Weak transcription	Spleen	Spleen
3	chr12:8882200-8939400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:8883400-8938800	Weak transcription	Primary B cells from cord blood	blood
5	chr12:8889200-8936600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:8890600-8937000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:8894200-8937800	Weak transcription	Esophagus	oesophagus
8	chr12:8895600-8937800	Weak transcription	HSMMtube	muscle
9	chr12:8895600-8941200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:8899400-8941200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:8903000-8941200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:8905000-8938400	Weak transcription	Pancreas	Pancrea
13	chr12:8905800-8941200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:8906000-8941200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:8906400-8937400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:8906800-8941200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:8907000-8938200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:8907200-8937600	Weak transcription	NH-A	brain
19	chr12:8908600-8941000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:8908600-8941200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:8908600-8941200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:8911600-8937800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:8913800-8938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:8918400-8937200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:8921000-8937200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:8923600-8937200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:8926200-8937000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:8926200-8938400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:8926400-8936600	Weak transcription	Aorta	Aorta
30	chr12:8926400-8936800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:8926400-8937200	Weak transcription	Lung	lung
32	chr12:8926400-8937400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:8926400-8937800	Weak transcription	Fetal Intestine Small	intestine
34	chr12:8926400-8938000	Weak transcription	Thymus	Thymus
35	chr12:8926400-8941200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:8926600-8938400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:8926800-8941400	Weak transcription	Primary T cells from cord blood	blood
38	chr12:8928200-8937600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:8929000-8941400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:8930400-8938000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:8930800-8941200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:8932200-8937000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:8932200-8937600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:8932200-8937800	Weak transcription	Ovary	ovary
45	chr12:8932200-8938200	Weak transcription	Brain Anterior Caudate	brain
46	chr12:8932800-8936600	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:8933400-8936800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:8933400-8937000	Weak transcription	Fetal Kidney	kidney
49	chr12:8933400-8941000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:8934400-8937000	Weak transcription	K562	blood

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