Variant report

Variant	rs9516834
Chromosome Location	chr13:97791090-97791091
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:97772914..97774476-chr13:97788808..97791555,2	MCF-7	breast:
2	chr13:97789069..97791800-chr13:97794910..97798178,3	K562	blood:
3	chr13:97789069..97794606-chr13:97796016..97800489,5	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs16953899	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16953900	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17301278	0.91[EUR][1000 genomes]
rs2282424	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4445760	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4456365	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57348783	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57806253	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59695980	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61107763	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7317886	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7317904	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7322677	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7322973	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7331281	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7332127	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7332327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7337250	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7338056	0.82[CEU][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7338420	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7338629	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7983632	0.81[EUR][1000 genomes]
rs7983895	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7988998	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7989356	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7990235	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7990802	0.84[AMR][1000 genomes]
rs7995449	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7997574	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8000282	0.91[MEX][hapmap]
rs9513209	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9513210	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9513211	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9513214	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9513215	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9513216	0.91[EUR][1000 genomes]
rs9513221	0.91[MEX][hapmap]
rs9516832	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9516835	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9516840	0.80[EUR][1000 genomes]
rs9516841	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9516843	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9516844	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9516845	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9516846	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9516847	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9516848	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9516849	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9516850	0.84[AMR][1000 genomes];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
rs9516834	MBNL2	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97783400-97792600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:97784400-97793400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:97784400-97793400	Weak transcription	K562	blood
4	chr13:97786600-97793400	Weak transcription	Colonic Mucosa	Colon
5	chr13:97786600-97793400	Weak transcription	Esophagus	oesophagus
6	chr13:97786800-97792000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr13:97786800-97792000	Weak transcription	NHDF-Ad	bronchial
8	chr13:97787000-97792000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:97787000-97792000	Weak transcription	HSMMtube	muscle
10	chr13:97787000-97793000	Weak transcription	NH-A	brain
11	chr13:97787000-97793200	Weak transcription	Hela-S3	cervix
12	chr13:97787000-97799000	Weak transcription	Lung	lung
13	chr13:97787400-97792000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:97788600-97791800	Weak transcription	A549	lung
15	chr13:97788600-97792600	Weak transcription	Fetal Lung	lung
16	chr13:97788600-97792800	Weak transcription	HepG2	liver
17	chr13:97788800-97792800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr13:97789000-97792000	Weak transcription	Aorta	Aorta
19	chr13:97789000-97792000	Weak transcription	Placenta	Placenta
20	chr13:97789000-97793400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:97789000-97793400	Weak transcription	Adipose Nuclei	Adipose
22	chr13:97789000-97793800	Weak transcription	Brain Substantia Nigra	brain
23	chr13:97789200-97792800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr13:97789200-97793000	Weak transcription	Brain Anterior Caudate	brain
25	chr13:97789200-97793600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:97789400-97793400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:97789400-97793600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:97789800-97791800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:97790000-97793000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:97790400-97791800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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