Variant report

Variant	rs4930564
Chromosome Location	chr11:67983281-67983282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:67982520-67984546	HepG2	liver:	n/a	chr11:67983810-67983820 chr11:67982708-67982718 chr11:67982710-67982719
2	POLR2A	chr11:67983002-67984602	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67981374..67984276-chr11:67993824..67997585,3	MCF-7	breast:
2	chr11:67801362..67804021-chr11:67981642..67984097,2	K562	blood:
3	chr11:67981478..67983630-chr11:68294229..68297212,2	MCF-7	breast:
4	chr11:67887483..67890032-chr11:67980873..67983925,4	MCF-7	breast:
5	chr11:67888029..67890292-chr11:67982793..67984418,2	MCF-7	breast:
6	chr11:67983014..67984592-chr11:67991622..67993187,2	K562	blood:
7	chr11:67981475..67983981-chr11:68591972..68593739,2	MCF-7	breast:
8	chr11:67982332..67984514-chr11:67991622..67993922,2	K562	blood:
9	chr11:67980249..67984222-chr11:68078427..68081768,4	MCF-7	breast:
10	chr11:67981308..67984011-chr11:68022436..68026046,3	K562	blood:
11	chr11:67978022..67983652-chr11:68035577..68041245,11	MCF-7	breast:
12	chr11:67810552..67812245-chr11:67980611..67983549,2	MCF-7	breast:
13	chr11:67982186..67984208-chr11:68005714..68007332,2	MCF-7	breast:

No data

Variant related genes	Relation type
SUV420H1	TF binding region
ENSG00000110717	Chromatin interaction
ENSG00000162337	Chromatin interaction
ENSG00000110719	Chromatin interaction
ENSG00000171067	Chromatin interaction
ENSG00000266737	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000255236	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10896298	0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10896301	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896303	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896304	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896305	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12225316	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1894204	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2011157	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2054865	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2512623	0.81[GIH][hapmap]
rs34236202	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34493482	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4345973	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930228	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4930229	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930230	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930561	0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4930563	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61890513	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7931502	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs7950452	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67981800-67984800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr11:67982000-67983600	Bivalent Enhancer	Placenta	Placenta
3	chr11:67982000-67983800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:67982000-67983800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr11:67982000-67984200	Enhancers	Gastric	stomach
6	chr11:67982200-67983400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:67982200-67983400	Enhancers	Adipose Nuclei	Adipose
8	chr11:67982200-67983400	Enhancers	Fetal Brain Male	brain
9	chr11:67982200-67983400	Enhancers	Fetal Lung	lung
10	chr11:67982200-67983400	Enhancers	Lung	lung
11	chr11:67982200-67983400	Enhancers	Right Ventricle	heart
12	chr11:67982200-67983600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:67982200-67983600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:67982200-67983800	Enhancers	Left Ventricle	heart
15	chr11:67982200-67984000	Enhancers	HMEC	breast
16	chr11:67982200-67984200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:67982200-67984200	Enhancers	Stomach Mucosa	stomach
18	chr11:67982200-67984400	Enhancers	Fetal Intestine Large	intestine
19	chr11:67982200-67984400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:67982400-67983400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:67982400-67983400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr11:67982400-67983400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:67982400-67983400	Enhancers	Brain Angular Gyrus	brain
24	chr11:67982400-67983600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:67982400-67983600	Enhancers	NHEK	skin
26	chr11:67982400-67983800	Enhancers	Colonic Mucosa	Colon
27	chr11:67982400-67984200	Enhancers	Esophagus	oesophagus
28	chr11:67982400-67987000	Weak transcription	Fetal Heart	heart
29	chr11:67982600-67983400	Enhancers	Liver	Liver
30	chr11:67982600-67984000	Enhancers	Pancreas	Pancrea
31	chr11:67982600-67984600	Flanking Active TSS	HepG2	liver
32	chr11:67982800-67983400	Enhancers	Fetal Intestine Small	intestine
33	chr11:67982800-67983800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr11:67982800-67984200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr11:67982800-67986600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:67982800-67987200	Weak transcription	GM12878-XiMat	blood
37	chr11:67983000-67983400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:67983000-67983400	Enhancers	Brain Hippocampus Middle	brain
39	chr11:67983000-67983600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:67983000-67983600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
41	chr11:67983000-67984200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr11:67983000-67984400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:67983000-67985000	Enhancers	Fetal Muscle Leg	muscle
44	chr11:67983000-67987200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:67983200-67983600	Enhancers	Psoas Muscle	Psoas
46	chr11:67983200-67983600	Weak transcription	Small Intestine	intestine
47	chr11:67983200-67984200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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