Variant report

Variant	rs6815984
Chromosome Location	chr4:149303212-149303213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11099694	0.86[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes]
rs13104077	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13114315	0.86[AMR][1000 genomes]
rs13116524	0.84[AMR][1000 genomes]
rs13117325	0.84[AMR][1000 genomes]
rs13121960	0.85[AMR][1000 genomes]
rs13129830	0.85[AMR][1000 genomes]
rs13149615	0.83[AMR][1000 genomes]
rs1512342	0.82[GIH][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes]
rs1546531	0.86[JPT][hapmap];0.86[AMR][1000 genomes]
rs17621119	0.81[AMR][1000 genomes]
rs2358336	0.86[AMR][1000 genomes]
rs4295241	0.86[AMR][1000 genomes]
rs6535600	0.84[AMR][1000 genomes]
rs7438918	0.95[JPT][hapmap];0.89[AMR][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	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
4	nsv530433	chr4:149277637-149669181	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv880246	chr4:149287807-149311728	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv980434	chr4:149300843-149308003	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6815984	E2F8	trans	parietal	SCAN
rs6815984	EDNRA	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149277000-149306800	Weak transcription	Pancreas	Pancrea
2	chr4:149292200-149315000	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:149297600-149304600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:149297800-149306000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:149297800-149306000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:149297800-149306000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:149297800-149350000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:149298400-149311600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:149299000-149306000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:149299000-149306800	Weak transcription	Psoas Muscle	Psoas
11	chr4:149299000-149329000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:149299200-149306200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:149299200-149307000	Weak transcription	Ovary	ovary
14	chr4:149299200-149318400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:149299800-149307200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:149300600-149310000	Weak transcription	Left Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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