Variant report

Variant	rs488346
Chromosome Location	chr15:58740874-58740875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58737118..58738691-chr15:58740817..58742511,2	K562	blood:
2	chr15:58739121..58741793-chr15:58746543..58749268,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16940308	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs474074	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497381	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515889	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574104	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs689314	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694949	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694954	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv904267	chr15:58699010-58769583	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1047048	chr15:58701400-58784800	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1043362	chr15:58726337-58756571	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv457173	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv569600	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58730400-58746200	Weak transcription	GM12878-XiMat	blood
2	chr15:58736600-58746200	Weak transcription	Spleen	Spleen
3	chr15:58737400-58749800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:58737400-58761800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:58737800-58746600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr15:58737800-58748200	Weak transcription	Left Ventricle	heart
7	chr15:58738600-58741400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:58738600-58741400	Enhancers	Dnd41	blood
9	chr15:58738800-58741000	Enhancers	Fetal Thymus	thymus
10	chr15:58739200-58741200	Enhancers	Thymus	Thymus
11	chr15:58739400-58741400	Enhancers	Stomach Mucosa	stomach
12	chr15:58739600-58741400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:58739600-58749600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:58739800-58741000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr15:58739800-58743600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:58740000-58741000	Enhancers	HepG2	liver
17	chr15:58740000-58743800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:58740000-58745000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:58740000-58745000	Weak transcription	HSMMtube	muscle
20	chr15:58740200-58741000	Enhancers	Fetal Intestine Large	intestine
21	chr15:58740200-58742000	Weak transcription	HSMM	muscle
22	chr15:58740400-58741000	Enhancers	Pancreas	Pancrea
23	chr15:58740400-58741200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:58740400-58741600	Enhancers	Gastric	stomach
25	chr15:58740400-58748800	Weak transcription	NHLF	lung
26	chr15:58740400-58749800	Weak transcription	Adipose Nuclei	Adipose
27	chr15:58740600-58741400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:58740600-58741400	Enhancers	Duodenum Mucosa	Duodenum
29	chr15:58740600-58746400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:58740600-58749600	Weak transcription	Small Intestine	intestine
31	chr15:58740800-58741000	Weak transcription	Lung	lung
32	chr15:58740800-58745200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:58740800-58749600	Weak transcription	Liver	Liver
34	chr15:58740800-58749600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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