Variant report

Variant	rs11068790
Chromosome Location	chr12:118492144-118492145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118490377..118492216-chr12:118538475..118541095,2	MCF-7	breast:
2	chr12:118405716..118409105-chr12:118489157..118492188,4	MCF-7	breast:
3	chr12:118491454..118494389-chr12:118600464..118603193,2	K562	blood:
4	chr12:118480642..118483852-chr12:118489666..118492317,3	K562	blood:
5	chr12:118481150..118484033-chr12:118491704..118494262,2	K562	blood:
6	chr12:118490804..118495433-chr12:118539497..118543131,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176871	Chromatin interaction
ENSG00000171435	Chromatin interaction
ENSG00000176834	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	0.87[ASN][1000 genomes]
rs11068792	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068794	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068797	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068799	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4131122	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767651	0.83[AMR][1000 genomes]
rs4767652	0.83[AMR][1000 genomes]
rs4767653	0.83[AMR][1000 genomes]
rs4767655	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57353139	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[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];0.98[EUR][1000 genomes];0.96[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:124 , 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	chr12:118481000-118493000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:118481000-118498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:118481200-118497600	Weak transcription	Fetal Thymus	thymus
8	chr12:118481400-118497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:118482600-118497600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:118482600-118497600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:118482800-118497200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:118487200-118493000	Weak transcription	K562	blood
13	chr12:118489400-118493000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:118489400-118497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:118489600-118493000	Weak transcription	Dnd41	blood
16	chr12:118489600-118494200	Enhancers	Left Ventricle	heart
17	chr12:118489600-118494200	Enhancers	HUVEC	blood vessel
18	chr12:118489600-118496800	Weak transcription	GM12878-XiMat	blood
19	chr12:118489600-118497200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:118490200-118494200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr12:118490400-118493200	Enhancers	Fetal Intestine Large	intestine
22	chr12:118490400-118497400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:118490400-118497400	Enhancers	Liver	Liver
24	chr12:118490600-118496800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:118490600-118497200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:118490600-118497200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:118490600-118497200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:118490600-118497400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:118490800-118497400	Weak transcription	Primary T cells from cord blood	blood
30	chr12:118490800-118497800	Weak transcription	Thymus	Thymus
31	chr12:118491000-118495800	Weak transcription	Fetal Brain Female	brain
32	chr12:118491000-118497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:118491000-118497200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:118491000-118497200	Weak transcription	Brain Germinal Matrix	brain
35	chr12:118491000-118497400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:118491000-118497400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:118491000-118497600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:118491200-118492600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:118491200-118493000	Weak transcription	Right Atrium	heart
40	chr12:118491200-118493000	Weak transcription	Right Ventricle	heart
41	chr12:118491200-118493200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:118491200-118493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:118491200-118493600	Weak transcription	Lung	lung
44	chr12:118491200-118493800	Weak transcription	Brain Angular Gyrus	brain
45	chr12:118491200-118493800	Weak transcription	Fetal Lung	lung
46	chr12:118491200-118493800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:118491200-118493800	Weak transcription	Spleen	Spleen
48	chr12:118491200-118493800	Enhancers	HepG2	liver
49	chr12:118491200-118494000	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:118491200-118496800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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