Variant report

Variant	rs56183451
Chromosome Location	chr12:31542809-31542810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31538215..31540416-chr12:31540541..31543060,2	K562	blood:
2	chr12:31476761..31479021-chr12:31542018..31543879,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177340	Chromatin interaction
ENSG00000139146	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs12809140	0.83[EUR][1000 genomes]
rs12812075	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812141	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816170	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818749	0.88[EUR][1000 genomes]
rs12819062	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12820294	0.88[EUR][1000 genomes]
rs12821808	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822601	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831480	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497517	0.88[EUR][1000 genomes]
rs17497656	0.88[EUR][1000 genomes]
rs17497998	0.88[EUR][1000 genomes]
rs1879399	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126897	0.88[EUR][1000 genomes]
rs34007930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184789	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34271764	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34308937	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34450466	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34585237	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34642866	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34667511	0.83[EUR][1000 genomes]
rs34949976	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34955459	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34986122	0.88[EUR][1000 genomes]
rs35029695	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35193529	0.88[EUR][1000 genomes]
rs35545963	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35567364	0.83[EUR][1000 genomes]
rs35679974	0.85[EUR][1000 genomes]
rs35692484	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35981245	0.81[AMR][1000 genomes]
rs3850967	0.83[EUR][1000 genomes]
rs4338625	0.88[EUR][1000 genomes]
rs4930977	0.84[AMR][1000 genomes]
rs4930981	0.88[EUR][1000 genomes]
rs4930983	0.88[EUR][1000 genomes]
rs4931485	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931498	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931503	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931504	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931510	0.88[EUR][1000 genomes]
rs4931518	0.88[EUR][1000 genomes]
rs55635343	0.86[EUR][1000 genomes]
rs55643034	0.87[EUR][1000 genomes]
rs55771933	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56234529	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56282720	0.85[EUR][1000 genomes]
rs56327034	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409505	0.88[EUR][1000 genomes]
rs66479670	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66520413	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66552209	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66597773	0.83[EUR][1000 genomes]
rs66635949	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67415228	0.88[EUR][1000 genomes]
rs67963293	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68030436	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71455661	0.82[EUR][1000 genomes]
rs71455664	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71455667	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71455668	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71455669	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71455670	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71455671	0.88[EUR][1000 genomes]
rs73080503	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73084486	0.88[EUR][1000 genomes]
rs73086471	0.88[EUR][1000 genomes]
rs73088505	0.87[EUR][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers 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 miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31535600-31560600	Weak transcription	Osteobl	bone
2	chr12:31535800-31544000	Weak transcription	Fetal Lung	lung
3	chr12:31536000-31550600	Weak transcription	Right Ventricle	heart
4	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:31536600-31547000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:31536600-31577400	Weak transcription	Small Intestine	intestine
7	chr12:31537200-31546400	Strong transcription	Fetal Intestine Large	intestine
8	chr12:31537200-31555600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:31537400-31545800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
11	chr12:31537600-31544800	Strong transcription	Fetal Brain Female	brain
12	chr12:31537600-31580800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:31537800-31572400	Weak transcription	Stomach Mucosa	stomach
14	chr12:31538000-31544400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr12:31538000-31549800	Strong transcription	A549	lung
16	chr12:31538000-31555600	Strong transcription	Liver	Liver
17	chr12:31538200-31544600	Strong transcription	Adipose Nuclei	Adipose
18	chr12:31538200-31545400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:31538200-31548600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:31538400-31543200	Strong transcription	Primary B cells from cord blood	blood
21	chr12:31538400-31544800	Strong transcription	Brain Germinal Matrix	brain
22	chr12:31538400-31555000	Weak transcription	Brain Substantia Nigra	brain
23	chr12:31538600-31551600	Strong transcription	Fetal Intestine Small	intestine
24	chr12:31538600-31563400	Weak transcription	Colonic Mucosa	Colon
25	chr12:31538800-31544800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:31539000-31552600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:31539200-31543600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:31539400-31544600	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:31539400-31545800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:31539400-31546400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:31539600-31544200	Strong transcription	HSMM	muscle
32	chr12:31539600-31555800	Weak transcription	NH-A	brain
33	chr12:31539800-31545600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
35	chr12:31540000-31549400	Weak transcription	Brain Angular Gyrus	brain
36	chr12:31540200-31544400	Strong transcription	Brain Hippocampus Middle	brain
37	chr12:31540400-31544400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:31540400-31544800	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr12:31540400-31565200	Weak transcription	HUVEC	blood vessel
40	chr12:31540600-31549400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:31540800-31543000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:31540800-31543200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:31540800-31543400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:31540800-31543800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:31540800-31544000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:31540800-31544000	Weak transcription	Esophagus	oesophagus
47	chr12:31540800-31544000	Weak transcription	Hela-S3	cervix
48	chr12:31540800-31544600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:31540800-31545600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:31540800-31545800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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