Variant report

Variant	rs74083758
Chromosome Location	chr12:46784876-46784877
allele	C/G
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	EP300	chr12:46784483-46785133	HepG2	liver:	n/a	chr12:46785119-46785133
2	TBP	chr12:46784049-46785383	GM12878	blood:	n/a	n/a
3	EBF1	chr12:46784838-46785140	GM12878	blood:	n/a	n/a
4	RCOR1	chr12:46784867-46785034	K562	blood:	n/a	n/a
5	NFIC	chr12:46784541-46785091	HepG2	liver:	n/a	n/a
6	FOXA1	chr12:46784562-46784966	HepG2	liver:	n/a	n/a
7	MAFK	chr12:46784745-46784893	HepG2	liver:	n/a	n/a
8	WRNIP1	chr12:46784485-46785059	GM12878	blood:	n/a	n/a
9	SETDB1	chr12:46784829-46785090	U2OS	brain:	n/a	n/a
10	MAFK	chr12:46784801-46785000	HepG2	liver:	n/a	chr12:46784910-46784930 chr12:46784912-46784928
11	ZNF143	chr12:46784789-46784996	GM12878	blood:	n/a	chr12:46784824-46784843
12	EBF1	chr12:46784757-46785117	GM12878	blood:	n/a	n/a
13	MAFF	chr12:46784792-46784957	HepG2	liver:	n/a	chr12:46784913-46784927
14	CUX1	chr12:46784868-46785018	K562	blood:	n/a	n/a
15	BATF	chr12:46784616-46785046	GM12878	blood:	n/a	n/a
16	RFX5	chr12:46784800-46785010	HepG2	liver:	n/a	n/a
17	RAD21	chr12:46784794-46784961	HepG2	liver:	n/a	n/a
18	YY1	chr12:46784799-46785070	GM12878	blood:	n/a	n/a
19	ARID3A	chr12:46784638-46784965	HepG2	liver:	n/a	n/a
20	TBP	chr12:46784796-46784903	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:46782810..46784901-chr12:46849696..46851269,2	MCF-7	breast:
2	chr12:46784468..46786236-chr20:55203268..55205812,2	MCF-7	breast:
3	chr12:46782004..46784906-chr12:46849046..46851285,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARID2-12	chr12:46782639-46785909	NONHSAT027878

Variant related genes	Relation type
ENSG00000257496	TF binding region
ENSG00000087510	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11183482	1.00[EUR][1000 genomes]
rs11183487	1.00[EUR][1000 genomes]
rs11830080	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11830086	1.00[AMR][1000 genomes]
rs11834905	0.81[AFR][1000 genomes]
rs11837634	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299499	1.00[EUR][1000 genomes]
rs12317255	1.00[EUR][1000 genomes]
rs12320438	1.00[EUR][1000 genomes]
rs12321512	1.00[EUR][1000 genomes]
rs12321642	1.00[EUR][1000 genomes]
rs12322378	1.00[EUR][1000 genomes]
rs13377959	1.00[EUR][1000 genomes]
rs17096765	1.00[EUR][1000 genomes]
rs17096793	1.00[EUR][1000 genomes]
rs17096896	1.00[EUR][1000 genomes]
rs17096922	1.00[EUR][1000 genomes]
rs17096996	1.00[AMR][1000 genomes]
rs2085682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2408578	1.00[AMR][1000 genomes]
rs34280632	1.00[EUR][1000 genomes]
rs35875247	1.00[EUR][1000 genomes]
rs36010856	1.00[EUR][1000 genomes]
rs55649919	1.00[AMR][1000 genomes]
rs55698768	1.00[AMR][1000 genomes]
rs56036156	1.00[EUR][1000 genomes]
rs56160202	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56196954	1.00[EUR][1000 genomes]
rs56314009	1.00[EUR][1000 genomes]
rs58460251	1.00[EUR][1000 genomes]
rs58890669	1.00[EUR][1000 genomes]
rs59451063	1.00[AMR][1000 genomes]
rs59608605	1.00[EUR][1000 genomes]
rs60325164	1.00[AMR][1000 genomes]
rs60565802	1.00[EUR][1000 genomes]
rs60878594	1.00[EUR][1000 genomes]
rs61351787	1.00[AMR][1000 genomes]
rs7136748	1.00[AMR][1000 genomes]
rs73290315	1.00[EUR][1000 genomes]
rs74081912	1.00[AMR][1000 genomes]
rs74082033	1.00[AMR][1000 genomes]
rs74082237	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082254	1.00[EUR][1000 genomes]
rs74082263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082433	1.00[AMR][1000 genomes]
rs74083751	1.00[AMR][1000 genomes]
rs74085404	1.00[AMR][1000 genomes]
rs74085421	1.00[AMR][1000 genomes]
rs74085432	1.00[AMR][1000 genomes]
rs74085442	1.00[AMR][1000 genomes]
rs7488027	1.00[EUR][1000 genomes]
rs7954314	1.00[EUR][1000 genomes]
rs7965618	1.00[EUR][1000 genomes]
rs7967889	1.00[EUR][1000 genomes]
rs7975472	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46778400-46786800	Enhancers	NHDF-Ad	bronchial
2	chr12:46778600-46785400	Enhancers	Adipose Nuclei	Adipose
3	chr12:46778600-46787000	Enhancers	Fetal Lung	lung
4	chr12:46778800-46797200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:46779600-46786000	Weak transcription	Gastric	stomach
6	chr12:46779600-46786400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:46779600-46786400	Weak transcription	Right Ventricle	heart
8	chr12:46779600-46802800	Weak transcription	Pancreas	Pancrea
9	chr12:46780600-46786800	Weak transcription	Brain Substantia Nigra	brain
10	chr12:46780600-46788600	Weak transcription	Fetal Brain Male	brain
11	chr12:46780800-46785600	Enhancers	Liver	Liver
12	chr12:46781000-46785600	Flanking Active TSS	GM12878-XiMat	blood
13	chr12:46781200-46785600	Enhancers	HUVEC	blood vessel
14	chr12:46781400-46786600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:46781400-46787000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:46781400-46787200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:46781600-46789200	Weak transcription	Fetal Stomach	stomach
18	chr12:46781600-46795400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:46781800-46785000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:46781800-46785200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:46781800-46785400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:46781800-46785600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:46781800-46786400	Weak transcription	Colonic Mucosa	Colon
24	chr12:46781800-46786400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:46781800-46786400	Weak transcription	Left Ventricle	heart
26	chr12:46781800-46786600	Enhancers	NHLF	lung
27	chr12:46781800-46795000	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:46782000-46785000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:46782000-46785000	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:46782000-46785000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr12:46782000-46787200	Enhancers	Hela-S3	cervix
32	chr12:46782000-46794600	Weak transcription	Fetal Kidney	kidney
33	chr12:46782000-46794600	Weak transcription	Placenta	Placenta
34	chr12:46782000-46794600	Weak transcription	Psoas Muscle	Psoas
35	chr12:46782400-46792600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:46782800-46796600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:46783000-46786000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:46783000-46786800	Enhancers	Osteobl	bone
39	chr12:46783000-46794200	Weak transcription	Thymus	Thymus
40	chr12:46783200-46786600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:46783200-46790800	Weak transcription	Ovary	ovary
42	chr12:46783200-46795600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:46783200-46796200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:46783200-46796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:46783200-46796800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:46783400-46786200	Weak transcription	K562	blood
47	chr12:46783400-46786400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:46783400-46786400	Weak transcription	Aorta	Aorta
49	chr12:46783400-46786600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:46783400-46794600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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