Variant report

Variant	rs55668439
Chromosome Location	chr12:65068233-65068234
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:65060197..65063075-chr12:65066604..65068445,2	K562	blood:
2	chr12:65017129..65019171-chr12:65067339..65069384,2	MCF-7	breast:
3	chr12:65002496..65005791-chr12:65064142..65070485,7	K562	blood:
4	chr12:65065436..65068310-chr12:65070713..65073194,2	K562	blood:
5	chr12:65002390..65006169-chr12:65065133..65068726,5	MCF-7	breast:
6	chr12:65002391..65005791-chr12:65064142..65070932,8	K562	blood:
7	chr12:65057089..65059897-chr12:65066585..65070276,3	K562	blood:
8	chr12:65066764..65068430-chr12:65120204..65121766,2	K562	blood:
9	chr12:65057089..65063734-chr12:65063788..65069344,8	K562	blood:
10	chr12:65054561..65056849-chr12:65066939..65068570,2	K562	blood:
11	chr12:65011593..65014021-chr12:65067404..65069519,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256670	Chromatin interaction
ENSG00000153179	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12812333	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12815802	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12820666	0.92[EUR][1000 genomes]
rs12828259	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35011112	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35127263	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35846274	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4964087	0.92[ASN][1000 genomes]
rs56136505	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56206108	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61931658	0.87[EUR][1000 genomes]
rs67264294	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788201	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65058400-65069600	Enhancers	Small Intestine	intestine
2	chr12:65058800-65070000	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr12:65059400-65068800	Enhancers	Fetal Intestine Large	intestine
4	chr12:65060000-65073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:65060200-65069200	Weak transcription	Osteobl	bone
6	chr12:65061800-65069800	Enhancers	Fetal Intestine Small	intestine
7	chr12:65062600-65069600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:65062600-65070000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:65062600-65071600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:65062800-65068600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:65062800-65068600	Enhancers	Fetal Lung	lung
12	chr12:65063000-65069600	Enhancers	Pancreas	Pancrea
13	chr12:65063000-65070000	Enhancers	Lung	lung
14	chr12:65063000-65071400	Enhancers	Left Ventricle	heart
15	chr12:65063400-65068800	Enhancers	Placenta	Placenta
16	chr12:65063600-65068600	Enhancers	Adipose Nuclei	Adipose
17	chr12:65063600-65069600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:65063600-65071400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:65063600-65073400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:65064000-65068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:65064000-65069800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:65064000-65070600	Enhancers	Colonic Mucosa	Colon
23	chr12:65064000-65073400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:65064000-65073400	Weak transcription	Fetal Brain Male	brain
25	chr12:65064000-65076000	Enhancers	Fetal Thymus	thymus
26	chr12:65064000-65078200	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:65064400-65068600	Enhancers	Dnd41	blood
28	chr12:65064400-65070200	Enhancers	Primary hematopoietic stem cells	blood
29	chr12:65065000-65069400	Weak transcription	NHDF-Ad	bronchial
30	chr12:65065200-65069400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:65065600-65069800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:65065600-65072200	Enhancers	Thymus	Thymus
33	chr12:65065800-65069400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:65065800-65069600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:65066000-65068800	Enhancers	HepG2	liver
36	chr12:65066000-65070000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:65066000-65078600	Enhancers	Spleen	Spleen
38	chr12:65066200-65068400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr12:65066200-65068400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr12:65066200-65068600	Enhancers	Gastric	stomach
41	chr12:65066200-65069800	Enhancers	Right Ventricle	heart
42	chr12:65066400-65068400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:65066400-65068400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr12:65066400-65068600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr12:65066400-65068800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:65066400-65068800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:65066400-65069000	Enhancers	Fetal Stomach	stomach
48	chr12:65066400-65069600	Enhancers	Right Atrium	heart
49	chr12:65066400-65069800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:65066600-65068800	Enhancers	Duodenum Smooth Muscle	Duodenum

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