Variant report

Variant	rs12647354
Chromosome Location	chr4:149179919-149179920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11730274	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11735947	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12640639	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13103641	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13104051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13105361	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13119790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13137095	0.90[ASN][1000 genomes]
rs13138913	0.97[ASN][1000 genomes]
rs1429914	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17620775	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17620822	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34279352	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35111299	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3846321	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3887856	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3910046	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4083100	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4087963	0.92[ASN][1000 genomes]
rs66469272	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67343083	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs765491	0.96[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	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	nsv880245	chr4:149132756-149183374	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149171000-149183600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr4:149175600-149182400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:149175600-149195000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:149176400-149182400	Weak transcription	Pancreas	Pancrea
5	chr4:149176400-149186400	Weak transcription	Fetal Intestine Small	intestine
6	chr4:149176400-149188400	Weak transcription	Right Atrium	heart
7	chr4:149177200-149184400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:149177200-149194800	Weak transcription	Small Intestine	intestine
9	chr4:149177400-149184600	Weak transcription	HUVEC	blood vessel
10	chr4:149177400-149184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:149179200-149180000	Enhancers	Left Ventricle	heart
12	chr4:149179400-149180400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:149179400-149181200	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr4:149179400-149181400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr4:149179600-149180000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:149179600-149180000	Enhancers	Lung	lung
17	chr4:149179600-149181400	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:149179800-149180000	Enhancers	Fetal Kidney	kidney
19	chr4:149179800-149180000	Enhancers	Psoas Muscle	Psoas
20	chr4:149179800-149180400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:149179800-149182400	Weak transcription	Esophagus	oesophagus

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