Variant report

Variant	rs7317886
Chromosome Location	chr13:97792713-97792714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:97792540..97794724-chr13:97910045..97912283,3	K562	blood:
2	chr13:97789069..97794606-chr13:97796016..97800489,5	K562	blood:
3	chr13:97791209..97794724-chr13:97910045..97913597,5	K562	blood:
4	chr13:97791984..97795803-chr13:97797601..97802176,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs16953899	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16953900	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17301278	0.91[EUR][1000 genomes]
rs2282424	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4445760	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4456365	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57348783	0.89[EUR][1000 genomes]
rs57806253	0.89[EUR][1000 genomes]
rs59695980	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61107763	0.85[EUR][1000 genomes]
rs7317904	0.89[EUR][1000 genomes]
rs7322677	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7322973	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7331281	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7332127	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7332327	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7337250	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7338056	0.82[CEU][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.89[EUR][1000 genomes]
rs7338420	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7338629	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7983632	0.81[EUR][1000 genomes]
rs7983895	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7988998	0.89[EUR][1000 genomes]
rs7989356	0.85[EUR][1000 genomes]
rs7990235	0.89[EUR][1000 genomes]
rs7995449	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7997574	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8000282	0.91[MEX][hapmap]
rs9513209	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9513210	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9513211	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9513214	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9513215	0.89[EUR][1000 genomes]
rs9513216	0.91[EUR][1000 genomes]
rs9513221	0.91[MEX][hapmap]
rs9516832	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9516834	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9516835	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9516840	0.80[EUR][1000 genomes]
rs9516841	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9516843	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9516844	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9516845	0.89[EUR][1000 genomes]
rs9516846	0.89[EUR][1000 genomes]
rs9516847	0.89[EUR][1000 genomes]
rs9516848	0.89[EUR][1000 genomes]
rs9516849	0.89[EUR][1000 genomes]
rs9516850	0.89[EUR][1000 genomes]
rs9516853	0.91[EUR][1000 genomes]
rs9516870	0.91[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053686	chr13:97771607-97802296	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7317886	MBNL2	cis	multi-tissue	Pritchard

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97784400-97793400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:97784400-97793400	Weak transcription	K562	blood
3	chr13:97786600-97793400	Weak transcription	Colonic Mucosa	Colon
4	chr13:97786600-97793400	Weak transcription	Esophagus	oesophagus
5	chr13:97787000-97793000	Weak transcription	NH-A	brain
6	chr13:97787000-97793200	Weak transcription	Hela-S3	cervix
7	chr13:97787000-97799000	Weak transcription	Lung	lung
8	chr13:97788600-97792800	Weak transcription	HepG2	liver
9	chr13:97788800-97792800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:97789000-97793400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:97789000-97793400	Weak transcription	Adipose Nuclei	Adipose
12	chr13:97789000-97793800	Weak transcription	Brain Substantia Nigra	brain
13	chr13:97789200-97792800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:97789200-97793000	Weak transcription	Brain Anterior Caudate	brain
15	chr13:97789200-97793600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:97789400-97793400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:97789400-97793600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:97790000-97793000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:97791800-97793000	Enhancers	A549	lung
20	chr13:97791800-97794000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:97791800-97794200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr13:97792000-97792800	Enhancers	HSMMtube	muscle
23	chr13:97792000-97793000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr13:97792000-97793000	Enhancers	NHLF	lung
25	chr13:97792000-97793200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:97792000-97793400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:97792000-97793400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr13:97792000-97794000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:97792000-97794000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr13:97792000-97794400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:97792000-97794400	Enhancers	HMEC	breast
32	chr13:97792200-97792800	Weak transcription	Aorta	Aorta
33	chr13:97792200-97792800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr13:97792200-97793200	Weak transcription	NHEK	skin
35	chr13:97792200-97793400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr13:97792200-97793400	Weak transcription	HSMM	muscle
37	chr13:97792200-97794000	Weak transcription	GM12878-XiMat	blood
38	chr13:97792200-97794600	Enhancers	Brain Angular Gyrus	brain
39	chr13:97792200-97796400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr13:97792400-97793400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:97792400-97793400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr13:97792400-97793400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:97792400-97793400	Weak transcription	Fetal Brain Male	brain
44	chr13:97792400-97793400	Weak transcription	Placenta	Placenta
45	chr13:97792400-97793600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:97792400-97793800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr13:97792400-97794000	Enhancers	Duodenum Mucosa	Duodenum
48	chr13:97792400-97794600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:97792600-97792800	Flanking Active TSS	NHDF-Ad	bronchial
50	chr13:97792600-97793000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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