Variant report

Variant	rs10774899
Chromosome Location	chr12:117484798-117484799
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	chr12:117482679-117485280	HL-60	blood:	n/a	n/a
2	CBX3	chr12:117484681-117484988	K562	blood:	n/a	n/a
3	RCOR1	chr12:117484691-117485021	K562	blood:	n/a	n/a
4	POLR2A	chr12:117483198-117485178	HL-60	blood:	n/a	n/a
5	RCOR1	chr12:117484716-117485032	K562	blood:	n/a	n/a
6	POLR2A	chr12:117482807-117485199	NB4	blood:	n/a	n/a
7	ZNF143	chr12:117484752-117484973	K562	blood:	n/a	n/a
8	POLR2A	chr12:117484564-117485203	GM12892	blood:	n/a	n/a
9	RCOR1	chr12:117484766-117484993	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:117484698-117485019	GM12892	blood:	n/a	n/a
11	POLR2A	chr12:117484759-117485098	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:117484789-117485071	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:117484668-117485093	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TESC	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10744887	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850745	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850747	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10850751	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850752	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068299	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068300	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068301	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068306	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611741	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11832441	0.84[EUR][1000 genomes]
rs11834817	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837022	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12368876	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472523	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2062528	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2173654	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291911	0.89[EUR][1000 genomes]
rs2393124	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782191	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782192	0.87[EUR][1000 genomes]
rs4766825	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55969361	0.84[EUR][1000 genomes]
rs58470318	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59756806	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6490104	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490105	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6490106	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6490107	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7294692	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297303	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7297917	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7953553	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956481	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960638	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960731	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964668	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7964686	0.84[EUR][1000 genomes]
rs7968761	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7968891	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7971795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972416	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7978810	0.84[EUR][1000 genomes]
rs9634171	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117467400-117486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:117477400-117484800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:117479600-117488000	Enhancers	Fetal Heart	heart
4	chr12:117480400-117485800	Weak transcription	Right Atrium	heart
5	chr12:117480600-117485800	Weak transcription	Ovary	ovary
6	chr12:117480600-117486200	Weak transcription	Esophagus	oesophagus
7	chr12:117481200-117485600	Weak transcription	A549	lung
8	chr12:117481200-117485600	Weak transcription	Hela-S3	cervix
9	chr12:117481400-117486000	Weak transcription	Stomach Mucosa	stomach
10	chr12:117482200-117485000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr12:117483000-117485000	Enhancers	Right Ventricle	heart
12	chr12:117483400-117485000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:117483600-117486000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:117483600-117486000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:117483600-117486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:117483600-117489200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:117483800-117485000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:117483800-117485800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:117483800-117485800	Weak transcription	Fetal Lung	lung
20	chr12:117483800-117486000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:117483800-117487000	Genic enhancers	Spleen	Spleen
22	chr12:117483800-117488400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:117483800-117498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:117483800-117498200	Weak transcription	Brain Angular Gyrus	brain
25	chr12:117483800-117498200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:117484000-117485000	Strong transcription	Pancreas	Pancrea
27	chr12:117484000-117485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:117484000-117485800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:117484000-117485800	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:117484000-117485800	Enhancers	HepG2	liver
31	chr12:117484000-117485800	Weak transcription	HSMMtube	muscle
32	chr12:117484000-117486000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:117484000-117486200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:117484000-117486400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:117484000-117487000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:117484000-117490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:117484000-117490800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:117484000-117493600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:117484200-117485800	Weak transcription	K562	blood
40	chr12:117484200-117486000	Strong transcription	Gastric	stomach
41	chr12:117484200-117486400	Weak transcription	Brain Anterior Caudate	brain
42	chr12:117484200-117486400	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:117484200-117487400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:117484200-117488800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:117484400-117484800	ZNF genes & repeats	Thymus	Thymus
46	chr12:117484400-117485600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:117484400-117485800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:117484400-117485800	Weak transcription	Fetal Intestine Small	intestine
49	chr12:117484400-117486000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:117484400-117486000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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