Variant report

Variant	rs7331661
Chromosome Location	chr13:76038996-76038997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11620109	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031507	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031508	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35267702	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4542543	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4883999	0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs7335576	0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs9530440	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9573548	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9573554	0.87[ASN][1000 genomes]
rs9573555	0.86[CHB][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7331661	DIS3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76017800-76039400	Weak transcription	Fetal Stomach	stomach
2	chr13:76020400-76054400	Weak transcription	A549	lung
3	chr13:76027000-76041600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
5	chr13:76031400-76039000	Weak transcription	HUVEC	blood vessel
6	chr13:76031800-76053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr13:76033400-76039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:76033400-76045600	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:76033600-76041200	Weak transcription	Adipose Nuclei	Adipose
10	chr13:76033600-76042800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:76033600-76042800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:76033800-76040800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr13:76034200-76039200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:76034200-76040200	Enhancers	Fetal Heart	heart
15	chr13:76035200-76045600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:76035400-76040600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:76035600-76041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:76036000-76039600	Weak transcription	Ovary	ovary
19	chr13:76036000-76041200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:76036000-76041600	Weak transcription	Osteobl	bone
21	chr13:76036000-76042400	Weak transcription	HSMMtube	muscle
22	chr13:76037400-76042200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:76037400-76043200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr13:76037600-76041800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr13:76037800-76042400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr13:76038000-76042200	Weak transcription	Hela-S3	cervix
27	chr13:76038000-76043200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr13:76038200-76039000	Weak transcription	HepG2	liver
29	chr13:76038200-76040400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:76038400-76039600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:76038400-76039600	Enhancers	Pancreas	Pancrea
32	chr13:76038400-76039800	Enhancers	NHEK	skin
33	chr13:76038600-76039800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr13:76038600-76040200	Enhancers	Psoas Muscle	Psoas
35	chr13:76038800-76039000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:76038800-76039400	Enhancers	Right Ventricle	heart
37	chr13:76038800-76039600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr13:76038800-76039600	ZNF genes & repeats	HMEC	breast
39	chr13:76038800-76039800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:76038800-76039800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:76038800-76039800	Enhancers	Right Atrium	heart
42	chr13:76038800-76040000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr13:76038800-76040200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:76038800-76040200	Enhancers	Left Ventricle	heart
45	chr13:76038800-76040400	ZNF genes & repeats	GM12878-XiMat	blood
46	chr13:76038800-76040600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr13:76038800-76041800	Weak transcription	Fetal Brain Male	brain

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