Variant report

Variant	rs1821715
Chromosome Location	chr15:40174920-40174921
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	chr15:40169522..40171956-chr15:40172179..40175019,2	K562	blood:
2	chr15:40170456..40172952-chr15:40173519..40175425,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11633436	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12901700	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1369884	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1369885	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1865753	0.83[ASN][1000 genomes]
rs275742	0.95[CHB][hapmap]
rs4924396	0.84[ASN][1000 genomes]
rs7497058	0.83[ASN][1000 genomes]
rs9630419	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1821715	INO80	cis	parietal	SCAN
rs1821715	RHOV	cis	parietal	SCAN
rs1821715	MGA	cis	parietal	SCAN
rs1821715	ZNF770	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40162400-40187000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:40164600-40176000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:40164800-40175000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:40165000-40176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:40165200-40176200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:40167800-40176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:40169000-40175200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:40169400-40175200	Enhancers	NHDF-Ad	bronchial
9	chr15:40169600-40178600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:40170600-40175200	Enhancers	Osteobl	bone
11	chr15:40170800-40175000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:40171000-40176800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:40171200-40176000	Weak transcription	HMEC	breast
14	chr15:40171200-40176200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:40171600-40178600	Weak transcription	NH-A	brain
16	chr15:40172600-40176200	Weak transcription	Hela-S3	cervix
17	chr15:40173000-40175400	Enhancers	K562	blood
18	chr15:40173200-40175400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:40173200-40175600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr15:40173600-40178000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:40174200-40175200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr15:40174200-40175600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr15:40174200-40176800	Weak transcription	HSMMtube	muscle
24	chr15:40174400-40176600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr15:40174600-40175400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
26	chr15:40174600-40175400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:40174600-40176200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:40174600-40176200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:40174600-40176400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:40174800-40175200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr15:40174800-40175400	Strong transcription	HSMM	muscle
32	chr15:40174800-40176800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:40174800-40177000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:40174800-40178800	Weak transcription	NHLF	lung

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