Variant report

Variant	rs2950888
Chromosome Location	chr11:47934723-47934724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47933639..47935365-chr11:47935949..47938234,2	K562	blood:
2	chr11:47927044..47930831-chr11:47932970..47936951,3	K562	blood:
3	chr11:47863437..47865733-chr11:47933034..47935744,2	K562	blood:

Variant related genes	Relation type
ENSG00000254780	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10769307	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838790	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039473	0.82[EUR][1000 genomes]
rs11039480	0.82[EUR][1000 genomes]
rs12099166	1.00[JPT][hapmap]
rs12270546	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12273589	0.85[ASN][1000 genomes]
rs1227997	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1227999	0.82[EUR][1000 genomes]
rs1228000	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1228004	0.82[EUR][1000 genomes]
rs1228008	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1228018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.89[MEX][hapmap];0.93[MKK][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1228019	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1228020	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1228021	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1228022	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1228023	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12290628	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12294218	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12295364	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1681604	0.82[EUR][1000 genomes]
rs1681627	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1681631	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1681637	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1729281	0.82[EUR][1000 genomes]
rs1729294	0.85[EUR][1000 genomes]
rs1729297	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17727140	0.83[CEU][hapmap]
rs2626567	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2697810	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2930188	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2930189	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2930192	0.81[EUR][1000 genomes]
rs2930195	0.82[EUR][1000 genomes]
rs4752883	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752886	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485797	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7111419	0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7113640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116080	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7117644	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7119280	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7928153	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7932759	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7941441	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs900699	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2950888	MTCH2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47925600-47943200	Enhancers	Placenta	Placenta
2	chr11:47927200-47942800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:47927800-47935000	Weak transcription	K562	blood
4	chr11:47927800-47936600	Weak transcription	Thymus	Thymus
5	chr11:47928200-47936800	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:47929000-47935600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:47929800-47935200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:47929800-47935400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:47930200-47935600	Weak transcription	HUVEC	blood vessel
10	chr11:47930200-47936800	Weak transcription	Spleen	Spleen
11	chr11:47930200-47937000	Weak transcription	Lung	lung
12	chr11:47930200-47937000	Weak transcription	Pancreas	Pancrea
13	chr11:47930200-47938000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:47930400-47936800	Weak transcription	Fetal Intestine Small	intestine
15	chr11:47931200-47939000	Enhancers	Hela-S3	cervix
16	chr11:47931400-47937200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:47931600-47939600	Weak transcription	NHDF-Ad	bronchial
18	chr11:47931600-47939600	Weak transcription	Osteobl	bone
19	chr11:47932400-47935200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:47933000-47939600	Enhancers	A549	lung
21	chr11:47933400-47938000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:47933800-47935200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:47933800-47935200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:47934000-47946600	Enhancers	Primary B cells from cord blood	blood
25	chr11:47934200-47935000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:47934400-47934800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:47934400-47947200	Enhancers	Primary B cells from peripheral blood	blood

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