Variant report

Variant	rs7986532
Chromosome Location	chr13:30077217-30077218
allele	A/G
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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1275359	1.00[AMR][1000 genomes]
rs166827	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17073593	1.00[MKK][hapmap]
rs280917	1.00[AMR][1000 genomes]
rs280927	1.00[AMR][1000 genomes]
rs280929	1.00[AMR][1000 genomes]
rs280932	1.00[MEX][hapmap]
rs280935	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs280937	1.00[AMR][1000 genomes]
rs280950	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs280954	1.00[AMR][1000 genomes]
rs7997827	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

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	chr13:30066400-30084400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:30071000-30128800	Strong transcription	Dnd41	blood
5	chr13:30072000-30078400	Strong transcription	Left Ventricle	heart
6	chr13:30072000-30080400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr13:30072400-30079200	Strong transcription	Stomach Smooth Muscle	stomach
8	chr13:30072800-30082600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:30074600-30077600	Strong transcription	Aorta	Aorta
10	chr13:30074800-30080400	Weak transcription	Pancreas	Pancrea
11	chr13:30074800-30082600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:30074800-30084800	Weak transcription	Gastric	stomach
13	chr13:30075400-30077800	Strong transcription	Ovary	ovary
14	chr13:30075600-30078400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:30075600-30078600	Strong transcription	Right Ventricle	heart
16	chr13:30076200-30079200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr13:30076400-30077400	Weak transcription	Fetal Heart	heart
18	chr13:30076400-30077600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr13:30076400-30077600	Flanking Active TSS	HSMM	muscle
20	chr13:30076600-30077400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr13:30077000-30077400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr13:30077000-30077400	Active TSS	Brain Substantia Nigra	brain
23	chr13:30077000-30077400	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr13:30077000-30077600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:30077000-30077600	Genic enhancers	Fetal Muscle Leg	muscle
26	chr13:30077000-30077600	Bivalent Enhancer	Placenta	Placenta
27	chr13:30077000-30077600	Bivalent Enhancer	Fetal Stomach	stomach
28	chr13:30077000-30077600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
29	chr13:30077000-30077800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr13:30077000-30077800	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr13:30077000-30077800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr13:30077000-30077800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:30077000-30077800	Active TSS	Osteobl	bone
34	chr13:30077000-30079800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr13:30077000-30080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:30077200-30077400	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr13:30077200-30077400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:30077200-30077400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr13:30077200-30077400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:30077200-30077400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:30077200-30077400	Active TSS	Brain Germinal Matrix	brain
42	chr13:30077200-30077400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr13:30077200-30077400	Active TSS	HSMMtube	muscle
44	chr13:30077200-30077600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr13:30077200-30077600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:30077200-30077600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr13:30077200-30077600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:30077200-30077600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:30077200-30077600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:30077200-30077600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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