Variant report

Variant	rs13148853
Chromosome Location	chr4:149212175-149212176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11099689	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11730274	0.86[CHB][hapmap]
rs11733930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735947	0.82[CHB][hapmap]
rs12512126	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12640639	0.82[CHB][hapmap]
rs13105361	0.82[CHB][hapmap]
rs13137095	0.94[CEU][hapmap];0.90[CHB][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13147775	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1429914	0.82[CHB][hapmap]
rs17620822	0.82[CHB][hapmap]
rs2356395	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34636256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846321	0.82[CHB][hapmap]
rs3887856	0.82[CHB][hapmap]
rs3910046	0.82[CHB][hapmap]
rs4087963	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs6854097	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs765491	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027263	chr4:149127120-149320135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537296	chr4:149127120-149320135	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1031815	chr4:149172485-149282928	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1028105	chr4:149199913-149284620	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537297	chr4:149199913-149284620	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1016966	chr4:149209467-149341037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13148853	MMAA	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149194400-149216400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr4:149206400-149216600	Weak transcription	Right Atrium	heart
3	chr4:149206400-149231600	Weak transcription	Right Ventricle	heart
4	chr4:149207200-149213600	Weak transcription	Liver	Liver
5	chr4:149208600-149214000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:149209800-149214600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:149209800-149216600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:149210000-149214800	Weak transcription	Ovary	ovary
9	chr4:149210000-149216600	Weak transcription	Pancreas	Pancrea
10	chr4:149210000-149220600	Weak transcription	Gastric	stomach
11	chr4:149211000-149213600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:149211200-149214000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:149211200-149214600	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:149211200-149215000	Weak transcription	Small Intestine	intestine
15	chr4:149211200-149220600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:149211400-149214000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:149211400-149214000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:149211400-149214400	Weak transcription	Fetal Intestine Large	intestine
19	chr4:149211400-149216400	Weak transcription	Left Ventricle	heart
20	chr4:149211400-149216600	Weak transcription	Psoas Muscle	Psoas
21	chr4:149211600-149213800	Weak transcription	Fetal Intestine Small	intestine
22	chr4:149211600-149213800	Weak transcription	Stomach Mucosa	stomach
23	chr4:149212000-149213000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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