Variant report

Variant	rs17344378
Chromosome Location	chr8:4417547-4417548
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17070487	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs17070617	0.85[ASN][1000 genomes]
rs17070620	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs17070623	0.92[CHB][hapmap]
rs17344058	0.92[CHB][hapmap];0.82[CHD][hapmap]
rs17344155	0.84[CHB][hapmap]
rs17344405	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17416046	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs17416228	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs1949909	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.85[ASN][1000 genomes]
rs1949910	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1997138	0.92[CHB][hapmap]
rs41470346	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs6980912	0.92[CHB][hapmap]
rs6992457	0.85[GIH][hapmap]
rs6993844	0.92[CHB][hapmap];0.88[ASN][1000 genomes]
rs73184907	0.85[ASN][1000 genomes]
rs73184916	0.85[ASN][1000 genomes]
rs73184968	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34054	chr8:4165205-4450873	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1024186	chr8:4305779-4446336	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1033900	chr8:4310667-4445860	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1030240	chr8:4310667-4446336	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv465378	chr8:4312402-4445944	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv609849	chr8:4312402-4445944	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv465379	chr8:4321350-4452129	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv609850	chr8:4321350-4452129	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1025967	chr8:4322234-4426539	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1021804	chr8:4324483-4420331	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv539390	chr8:4324483-4420331	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1016291	chr8:4324683-4420192	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv539392	chr8:4324683-4420192	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv465381	chr8:4377712-4418410	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv609854	chr8:4377712-4418410	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1028439	chr8:4381318-4420192	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv539395	chr8:4381318-4420192	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv889960	chr8:4395685-4489552	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv465384	chr8:4413282-4512135	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv609857	chr8:4413282-4512135	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4416400-4418200	Enhancers	Fetal Stomach	stomach
2	chr8:4417200-4418400	Enhancers	Dnd41	blood
3	chr8:4417400-4418200	Enhancers	HUVEC	blood vessel

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