Variant report

Variant	rs260543
Chromosome Location	chr15:29977516-29977517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:29962258..29965164-chr15:29975337..29978294,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10775231	0.90[ASN][1000 genomes]
rs11632546	1.00[JPT][hapmap]
rs11636849	0.90[ASN][1000 genomes]
rs11638797	1.00[JPT][hapmap]
rs12901062	1.00[JPT][hapmap]
rs16955758	1.00[JPT][hapmap]
rs17671556	1.00[GIH][hapmap]
rs2035326	0.91[GIH][hapmap]
rs2291166	1.00[GIH][hapmap]
rs2337170	0.85[ASN][1000 genomes]
rs2337171	0.80[ASN][1000 genomes]
rs260526	1.00[JPT][hapmap]
rs260541	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs260545	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6495890	0.80[ASN][1000 genomes]

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	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv903747	chr15:29361126-30008977	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv832944	chr15:29861062-30082057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:29968600-29978800	Weak transcription	Liver	Liver
2	chr15:29969200-29992000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:29970400-29977600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:29970600-29980200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:29970600-29980600	Weak transcription	Brain Substantia Nigra	brain
6	chr15:29971400-29977600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:29971800-29977600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr15:29971800-29979000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:29972600-29979000	Weak transcription	Fetal Intestine Large	intestine
10	chr15:29972800-29989200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:29973600-29989600	Weak transcription	Fetal Muscle Leg	muscle
12	chr15:29974400-29979400	Weak transcription	Fetal Intestine Small	intestine
13	chr15:29975800-29977600	Weak transcription	A549	lung
14	chr15:29975800-29977600	Weak transcription	Osteobl	bone
15	chr15:29976000-29977600	Weak transcription	Gastric	stomach
16	chr15:29977200-29978000	Enhancers	HMEC	breast
17	chr15:29977200-29978400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:29977200-29978400	Enhancers	NH-A	brain
19	chr15:29977200-29978600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:29977200-29978600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:29977200-29978600	Enhancers	NHEK	skin
22	chr15:29977200-29979000	Enhancers	Stomach Mucosa	stomach
23	chr15:29977400-29977600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:29977400-29977800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:29977400-29977800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr15:29977400-29978000	Enhancers	Pancreas	Pancrea
27	chr15:29977400-29978400	Enhancers	NHLF	lung
28	chr15:29977400-29978600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:29977400-29978600	Enhancers	HUVEC	blood vessel
30	chr15:29977400-29978800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:29977400-29978800	Enhancers	HSMM	muscle

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