Variant report

Variant	rs11099694
Chromosome Location	chr4:149267709-149267710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13104077	0.83[AMR][1000 genomes]
rs13114315	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13116099	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13116524	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13117325	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13121960	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13129830	0.80[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13149615	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1512336	0.89[YRI][hapmap]
rs1512342	0.89[ASW][hapmap];0.80[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1546531	0.80[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17621119	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2137332	0.90[YRI][hapmap]
rs2358336	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4295241	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6535600	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6815984	0.86[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes]
rs7438918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7677409	0.90[YRI][hapmap]
rs993386	0.90[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11099694	EDNRA	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149249400-149271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr4:149266000-149268000	Weak transcription	Stomach Mucosa	stomach
3	chr4:149266000-149268200	Enhancers	Fetal Heart	heart
4	chr4:149266000-149276400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:149266800-149268200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:149266800-149268200	Enhancers	Small Intestine	intestine
7	chr4:149267000-149267800	Enhancers	Psoas Muscle	Psoas
8	chr4:149267000-149267800	Enhancers	Right Ventricle	heart
9	chr4:149267000-149268200	Enhancers	Left Ventricle	heart
10	chr4:149267000-149268200	Enhancers	Right Atrium	heart
11	chr4:149267000-149280600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:149267200-149269400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:149267200-149276800	Weak transcription	Colonic Mucosa	Colon
14	chr4:149267400-149267800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr4:149267400-149268200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:149267400-149268200	Enhancers	Ovary	ovary
17	chr4:149267400-149276800	Weak transcription	Liver	Liver
18	chr4:149267600-149268600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:149267600-149269800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:149267600-149272800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:149267600-149276600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:149267600-149276600	Weak transcription	Stomach Smooth Muscle	stomach

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