Variant report

Variant	rs946228
Chromosome Location	chr13:96133018-96133019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10219866	0.88[ASN][1000 genomes]
rs11617639	0.87[ASN][1000 genomes]
rs11619150	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs11843974	0.87[CHB][hapmap];0.91[CHD][hapmap]
rs12427460	0.86[CHB][hapmap]
rs12866697	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12872431	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs12876693	0.83[ASN][1000 genomes]
rs12876913	0.86[ASN][1000 genomes]
rs1570903	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1570904	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1890373	1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs4322517	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4335657	0.88[ASN][1000 genomes]
rs4387474	0.88[ASN][1000 genomes]
rs4394950	0.87[CHB][hapmap]
rs4409957	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs4466958	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4547209	0.86[ASN][1000 genomes]
rs4564445	0.88[ASN][1000 genomes]
rs4564446	0.84[ASN][1000 genomes]
rs4587819	0.88[ASN][1000 genomes]
rs4609701	0.88[ASN][1000 genomes]
rs4771917	0.85[CHB][hapmap]
rs4773907	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs4773908	0.86[CHB][hapmap]
rs4773910	0.86[ASN][1000 genomes]
rs4773911	0.86[ASN][1000 genomes]
rs4773912	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs6492792	0.88[ASN][1000 genomes]
rs6492793	0.81[ASN][1000 genomes]
rs6492796	0.88[ASN][1000 genomes]
rs6492797	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs6492798	0.86[ASN][1000 genomes]
rs6492799	0.85[ASN][1000 genomes]
rs6492807	0.82[CHB][hapmap];0.95[CHD][hapmap]
rs7322391	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs7326265	0.88[ASN][1000 genomes]
rs7326546	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs7328468	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs7332888	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7332917	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs7338647	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs7982486	1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs7982563	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs7984234	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs7990054	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7992297	0.86[ASN][1000 genomes]
rs7995104	0.82[ASN][1000 genomes]
rs7995959	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8002444	1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs8002639	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs877960	0.90[ASN][1000 genomes]
rs877961	0.89[ASN][1000 genomes]
rs877962	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs927786	0.87[CHB][hapmap]
rs927787	0.86[CHB][hapmap]
rs927788	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs9302074	1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs9302075	0.86[CHB][hapmap]
rs9302076	0.87[CHB][hapmap]
rs946231	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs9516589	0.88[ASN][1000 genomes]
rs9516590	0.87[ASN][1000 genomes]
rs9524982	1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs9524983	0.86[ASN][1000 genomes]
rs9524984	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs9524986	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs9524987	0.83[ASN][1000 genomes]
rs9524988	0.83[ASN][1000 genomes]
rs9524989	0.87[CHB][hapmap]
rs9524991	0.81[CHB][hapmap];0.91[CHD][hapmap]
rs9561880	0.85[ASN][1000 genomes]
rs9590285	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs9590286	0.82[ASN][1000 genomes]
rs9590287	0.85[ASN][1000 genomes]
rs9590288	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1037673	chr13:95930191-96146554	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541882	chr13:95930191-96146554	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2752652	chr13:96059024-96181597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs946228	MBNL2	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96127800-96144600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:96130600-96133400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr13:96131000-96133400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr13:96131200-96133200	Weak transcription	NHDF-Ad	bronchial
5	chr13:96131200-96133600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:96131200-96134600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr13:96131200-96137200	Weak transcription	Aorta	Aorta
8	chr13:96131200-96137200	Weak transcription	Right Atrium	heart
9	chr13:96131400-96133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:96131400-96133200	Weak transcription	A549	lung
11	chr13:96131400-96133800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr13:96131400-96134200	Enhancers	Primary hematopoietic stem cells	blood
13	chr13:96131800-96133800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:96131800-96133800	Enhancers	HUVEC	blood vessel
15	chr13:96132000-96133600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:96132400-96133800	Enhancers	GM12878-XiMat	blood
17	chr13:96132400-96134200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr13:96132600-96133800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:96132600-96133800	Enhancers	Pancreas	Pancrea
20	chr13:96132800-96133400	Weak transcription	Spleen	Spleen
21	chr13:96132800-96134200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:96133000-96133600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:96133000-96133800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:96133000-96133800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr13:96133000-96134000	Enhancers	Osteobl	bone
26	chr13:96133000-96134400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr13:96133000-96136400	Weak transcription	K562	blood

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