Variant report

Variant	rs2623739
Chromosome Location	chr8:3668540-3668541
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:3667541..3670301-chr8:3671592..3673613,2	K562	blood:
2	chr8:3666135..3668628-chr8:3668969..3670957,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1383956	1.00[AFR][1000 genomes]
rs1383957	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17067645	1.00[EUR][1000 genomes]
rs1871822	1.00[YRI][hapmap]
rs2046198	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2062072	1.00[YRI][hapmap]
rs2062073	1.00[YRI][hapmap]
rs2623636	1.00[YRI][hapmap]
rs2623674	1.00[YRI][hapmap]
rs2623676	1.00[YRI][hapmap]
rs2623688	1.00[YRI][hapmap]
rs2623689	1.00[YRI][hapmap]
rs2627389	1.00[YRI][hapmap]
rs2627426	1.00[JPT][hapmap]
rs2688262	1.00[YRI][hapmap]
rs2720735	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2720742	1.00[AFR][1000 genomes]
rs2720780	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2720784	1.00[AFR][1000 genomes]
rs2720787	1.00[AFR][1000 genomes]
rs2720870	1.00[YRI][hapmap]
rs2720876	1.00[YRI][hapmap]
rs2720879	1.00[AFR][1000 genomes]
rs2720886	1.00[AFR][1000 genomes]
rs2720889	1.00[AFR][1000 genomes]
rs2930354	1.00[YRI][hapmap]
rs2975363	1.00[YRI][hapmap]
rs2975365	1.00[YRI][hapmap]
rs2975369	1.00[YRI][hapmap]
rs2975370	1.00[YRI][hapmap]
rs2975371	1.00[YRI][hapmap]
rs2975376	1.00[YRI][hapmap]
rs3102414	1.00[YRI][hapmap]
rs4509357	1.00[YRI][hapmap]
rs7009012	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs900091	1.00[AFR][1000 genomes]
rs922742	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025209	chr8:3067655-3754882	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1017752	chr8:3530971-3754478	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv539355	chr8:3530971-3754478	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1025204	chr8:3542586-3889592	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv539356	chr8:3542586-3889592	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv949269	chr8:3556145-4246903	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv498034	chr8:3559289-3846288	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv889904	chr8:3580368-3786543	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1023248	chr8:3623613-3691859	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1034837	chr8:3623613-3880459	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv932135	chr8:3636535-3909039	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv429842	chr8:3663940-3731867	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv609750	chr8:3663971-3790254	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1018306	chr8:3667329-3843087	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3667400-3669200	Enhancers	Fetal Intestine Small	intestine
2	chr8:3667600-3669600	Enhancers	Fetal Intestine Large	intestine
3	chr8:3668000-3669400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:3668200-3668600	Weak transcription	Liver	Liver

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