Variant report

Variant	rs4767655
Chromosome Location	chr12:118493522-118493523
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:118493495-118494585	PANC-1	pancreas:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118492599..118494701-chr12:118539022..118541742,2	MCF-7	breast:
2	chr12:118488121..118491421-chr12:118492938..118496447,4	K562	blood:
3	chr12:118466683..118468213-chr12:118492761..118494413,2	K562	blood:
4	chr12:118492843..118495653-chr12:118505555..118507815,2	MCF-7	breast:
5	chr12:118474167..118477019-chr12:118493239..118495940,2	MCF-7	breast:
6	chr12:118492994..118495394-chr12:118535946..118537983,2	MCF-7	breast:
7	chr12:118491454..118494389-chr12:118600464..118603193,2	K562	blood:
8	chr12:118481150..118484033-chr12:118491704..118494262,2	K562	blood:
9	chr12:118490804..118495433-chr12:118539497..118543131,5	MCF-7	breast:

No data

Variant related genes	Relation type
WSB2	TF binding region
ENSG00000176834	Chromatin interaction
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11068778	0.88[ASN][1000 genomes]
rs11068790	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068792	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068794	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068799	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4131122	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767651	0.83[AMR][1000 genomes]
rs4767652	0.83[AMR][1000 genomes]
rs4767653	0.83[AMR][1000 genomes]
rs57353139	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5745865	0.81[AMR][1000 genomes]
rs5745869	0.81[AMR][1000 genomes]
rs5745871	0.81[AMR][1000 genomes]
rs5745874	0.81[AMR][1000 genomes]
rs7134751	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:118476400-118497600	Weak transcription	Fetal Brain Male	brain
3	chr12:118477000-118497600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:118480800-118497200	Weak transcription	Fetal Kidney	kidney
5	chr12:118481000-118498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:118481200-118497600	Weak transcription	Fetal Thymus	thymus
7	chr12:118481400-118497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:118482600-118497600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:118482600-118497600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:118482800-118497200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:118489400-118497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:118489600-118494200	Enhancers	Left Ventricle	heart
13	chr12:118489600-118494200	Enhancers	HUVEC	blood vessel
14	chr12:118489600-118496800	Weak transcription	GM12878-XiMat	blood
15	chr12:118489600-118497200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:118490200-118494200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:118490400-118497400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:118490400-118497400	Enhancers	Liver	Liver
19	chr12:118490600-118496800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:118490600-118497200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:118490600-118497200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:118490600-118497200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:118490600-118497400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:118490800-118497400	Weak transcription	Primary T cells from cord blood	blood
25	chr12:118490800-118497800	Weak transcription	Thymus	Thymus
26	chr12:118491000-118495800	Weak transcription	Fetal Brain Female	brain
27	chr12:118491000-118497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:118491000-118497200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:118491000-118497200	Weak transcription	Brain Germinal Matrix	brain
30	chr12:118491000-118497400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:118491000-118497400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:118491000-118497600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:118491200-118493600	Weak transcription	Lung	lung
34	chr12:118491200-118493800	Weak transcription	Brain Angular Gyrus	brain
35	chr12:118491200-118493800	Weak transcription	Fetal Lung	lung
36	chr12:118491200-118493800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:118491200-118493800	Weak transcription	Spleen	Spleen
38	chr12:118491200-118493800	Enhancers	HepG2	liver
39	chr12:118491200-118494000	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:118491200-118496800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:118491200-118497200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:118491200-118497200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:118491200-118497400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:118491200-118497400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:118491200-118497400	Weak transcription	Aorta	Aorta
46	chr12:118491200-118497400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:118491200-118497600	Weak transcription	Esophagus	oesophagus
48	chr12:118491200-118497600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:118491400-118493600	Weak transcription	Gastric	stomach
50	chr12:118491400-118493800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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