Variant report

Variant	rs3011619
Chromosome Location	chr13:30076053-30076054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30076045..30078602-chr13:30271472..30273555,2	MCF-7	breast:
2	chr13:30070420..30074031-chr13:30074570..30077509,3	MCF-7	breast:
3	chr13:30074160..30075942-chr13:30076052..30078263,2	MCF-7	breast:
4	chr13:30074865..30078261-chr13:30079505..30082420,3	K562	blood:

Variant related genes	Relation type
ENSG00000132938	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2277452	0.89[MKK][hapmap]
rs2482087	0.87[LWK][hapmap];0.89[MKK][hapmap];0.81[AFR][1000 genomes]
rs2482097	0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2490264	0.89[MKK][hapmap]
rs2490268	0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2776978	0.81[CHD][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.92[ASN][1000 genomes]
rs2776979	0.81[CHD][hapmap];0.92[ASN][1000 genomes]
rs2776980	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2776981	0.92[ASN][1000 genomes]
rs2776983	0.92[ASN][1000 genomes]
rs2776984	0.92[ASN][1000 genomes]
rs2776985	0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2776986	0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2802243	0.81[CHD][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2802244	0.81[CHD][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];0.92[ASN][1000 genomes]
rs2802245	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2802246	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3011618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3011620	0.92[ASN][1000 genomes]
rs3011622	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3011624	1.00[JPT][hapmap]
rs3013640	0.89[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv983696	chr13:30034016-30090454	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv899960	chr13:30064014-30097240	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv561392	chr13:30071245-30091819	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv1003602	chr13:30072953-30076249	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30047200-30081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:30062400-30087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:30065000-30077200	Weak transcription	Fetal Brain Female	brain
4	chr13:30066400-30084400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:30070600-30077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:30070600-30077200	Weak transcription	Brain Anterior Caudate	brain
7	chr13:30071000-30128800	Strong transcription	Dnd41	blood
8	chr13:30071600-30076800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr13:30071600-30077000	Weak transcription	Brain Germinal Matrix	brain
10	chr13:30072000-30078400	Strong transcription	Left Ventricle	heart
11	chr13:30072000-30080400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr13:30072400-30079200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr13:30072800-30082600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:30074600-30077600	Strong transcription	Aorta	Aorta
15	chr13:30074800-30076200	Weak transcription	HSMMtube	muscle
16	chr13:30074800-30080400	Weak transcription	Pancreas	Pancrea
17	chr13:30074800-30082600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:30074800-30084800	Weak transcription	Gastric	stomach
19	chr13:30075400-30076200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr13:30075400-30077800	Strong transcription	Ovary	ovary
21	chr13:30075600-30076400	Genic enhancers	Fetal Heart	heart
22	chr13:30075600-30076400	Weak transcription	Fetal Stomach	stomach
23	chr13:30075600-30078400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:30075600-30078600	Strong transcription	Right Ventricle	heart
25	chr13:30075800-30076400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr13:30075800-30076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:30075800-30076800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:30075800-30077000	Strong transcription	Fetal Muscle Leg	muscle
29	chr13:30076000-30076200	ZNF genes & repeats	Fetal Brain Male	brain

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