Variant report

Variant	rs12331321
Chromosome Location	chr4:149266471-149266472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10021848	0.92[CHB][hapmap]
rs11099690	0.91[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17484454	0.92[CHB][hapmap]
rs1858416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3846325	0.90[CHB][hapmap]
rs3911846	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs4260521	0.91[CHB][hapmap]
rs61761530	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62332049	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62332051	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62333586	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62333650	0.89[EUR][1000 genomes]
rs6826213	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6851669	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7680420	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs992556	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv1019350	chr4:149232430-149282117	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3584816	chr4:149254670-149293317	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149235000-149266800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:149249400-149271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr4:149252000-149267000	Weak transcription	Right Ventricle	heart
4	chr4:149258000-149266800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:149261600-149267000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:149263400-149267000	Weak transcription	Gastric	stomach
7	chr4:149263600-149267000	Weak transcription	Psoas Muscle	Psoas
8	chr4:149263600-149267000	Weak transcription	Right Atrium	heart
9	chr4:149263600-149267400	Weak transcription	Ovary	ovary
10	chr4:149265000-149266600	Enhancers	Fetal Lung	lung
11	chr4:149265000-149267000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr4:149265000-149267600	Enhancers	Stomach Smooth Muscle	stomach
13	chr4:149265200-149267600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:149265400-149267200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr4:149265600-149266600	Enhancers	Brain Angular Gyrus	brain
16	chr4:149265600-149266600	Enhancers	Brain Anterior Caudate	brain
17	chr4:149265600-149266600	Enhancers	Brain Germinal Matrix	brain
18	chr4:149265600-149266600	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:149265600-149267400	Enhancers	Liver	Liver
20	chr4:149266000-149267000	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:149266000-149267000	Weak transcription	Left Ventricle	heart
22	chr4:149266000-149268000	Weak transcription	Stomach Mucosa	stomach
23	chr4:149266000-149268200	Enhancers	Fetal Heart	heart
24	chr4:149266000-149276400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:149266200-149266600	Enhancers	Fetal Brain Male	brain
26	chr4:149266400-149266800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:149266400-149266800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:149266400-149266800	Weak transcription	Small Intestine	intestine

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