Variant report

Variant	rs11183482
Chromosome Location	chr12:46825929-46825930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46765214..46768254-chr12:46823583..46826373,3	MCF-7	breast:
2	chr12:46825701..46828001-chr12:46831066..46833593,2	K562	blood:
3	chr12:46778754..46781085-chr12:46824717..46827146,2	MCF-7	breast:
4	chr12:46774613..46778148-chr12:46823214..46828002,7	K562	blood:
5	chr12:46761984..46768014-chr12:46824742..46829089,8	K562	blood:
6	chr12:46824063..46826118-chr12:47049459..47052232,2	K562	blood:
7	chr12:46760616..46768014-chr12:46824033..46835241,16	K562	blood:
8	chr12:46764784..46767116-chr12:46824386..46826032,2	MCF-7	breast:
9	chr12:46751526..46753081-chr12:46824348..46827260,2	K562	blood:
10	chr12:46825349..46826029-chr22:29196218..29196920,2	Hela-S3	cervix:
11	chr12:46795170..46796773-chr12:46824331..46826710,2	K562	blood:
12	chr12:46775794..46779022-chr12:46824267..46828002,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257496	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10467215	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10506267	0.83[CHB][hapmap]
rs11183454	0.88[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11183467	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11183487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183500	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11183510	0.94[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]
rs1125908	0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[AMR][1000 genomes]
rs11830080	1.00[EUR][1000 genomes]
rs11834905	1.00[AMR][1000 genomes]
rs11837634	1.00[EUR][1000 genomes]
rs12299499	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12317255	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320438	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12321512	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12321642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12321960	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs12322378	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13377959	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17096884	0.93[ASW][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs17096896	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17096922	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17096998	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2085682	1.00[EUR][1000 genomes]
rs2125646	0.83[CHB][hapmap]
rs2307062	0.88[CHB][hapmap];0.86[CHD][hapmap]
rs2307063	0.88[CHB][hapmap]
rs2408509	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs34280632	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35875247	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36010856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3742061	0.88[CHB][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes]
rs3935048	0.88[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs4768118	1.00[YRI][hapmap]
rs56036156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56160202	1.00[EUR][1000 genomes]
rs56196954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56314009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57425661	1.00[AMR][1000 genomes]
rs58460251	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58890669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59608605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60565802	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60878594	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61406609	1.00[AMR][1000 genomes]
rs73282591	1.00[AMR][1000 genomes]
rs73290315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082237	1.00[EUR][1000 genomes]
rs74082254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74082263	1.00[EUR][1000 genomes]
rs74082274	1.00[EUR][1000 genomes]
rs74083758	1.00[EUR][1000 genomes]
rs7488027	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7953339	0.94[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]
rs7954314	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7965618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7967889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977319	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7980023	0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs923788	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9669404	0.81[ASW][hapmap];1.00[YRI][hapmap]

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	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
2	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
3	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
4	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46820000-46830600	Weak transcription	Ovary	ovary
2	chr12:46821600-46827600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:46821600-46848600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:46822400-46826800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:46822400-46833600	Enhancers	Hela-S3	cervix
6	chr12:46822800-46826600	Enhancers	NHDF-Ad	bronchial
7	chr12:46823000-46826600	Enhancers	HMEC	breast
8	chr12:46823400-46826400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:46823400-46826400	Enhancers	NHLF	lung
10	chr12:46823400-46826600	Enhancers	Osteobl	bone
11	chr12:46823600-46826400	Enhancers	HSMM	muscle
12	chr12:46823600-46826600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:46824000-46826000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr12:46824000-46826200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:46824000-46826400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:46824000-46826400	Enhancers	Adipose Nuclei	Adipose
17	chr12:46824000-46826400	Enhancers	Fetal Intestine Small	intestine
18	chr12:46824000-46826400	Enhancers	Fetal Kidney	kidney
19	chr12:46824000-46826400	Enhancers	Fetal Lung	lung
20	chr12:46824200-46826400	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:46824200-46826400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:46824200-46826400	Enhancers	Fetal Heart	heart
23	chr12:46824200-46826400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr12:46824200-46826400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:46824600-46826000	Enhancers	Small Intestine	intestine
26	chr12:46824600-46826000	Enhancers	Stomach Mucosa	stomach
27	chr12:46824600-46826400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:46824600-46826400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:46824600-46826400	Enhancers	Fetal Stomach	stomach
30	chr12:46824600-46826600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:46824600-46828600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:46824800-46826000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:46824800-46826000	Enhancers	HUVEC	blood vessel
34	chr12:46824800-46826400	Enhancers	HepG2	liver
35	chr12:46824800-46826400	Enhancers	NH-A	brain
36	chr12:46824800-46826600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:46824800-46827600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:46825000-46826000	Enhancers	Colon Smooth Muscle	Colon
39	chr12:46825200-46826000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:46825200-46826000	Enhancers	Esophagus	oesophagus
41	chr12:46825200-46826200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:46825200-46826200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr12:46825200-46826400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:46825200-46826400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:46825200-46826400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:46825200-46826400	Enhancers	Fetal Muscle Leg	muscle
47	chr12:46825200-46826400	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:46825200-46826400	Flanking Active TSS	A549	lung
49	chr12:46825400-46826000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:46825400-46826400	Enhancers	HUES6 Cell Line	embryonic stem cell

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