Variant report

Variant	rs17482037
Chromosome Location	chr5:115314458-115314459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:115314451-115314501	NT2-D1	testis:	n/a
2	chr5:115314451-115314501	A549	lung:	n/a
3	chr5:115314451-115314501	T-47D	breast:	n/a
4	chr5:115314451-115314501	ovcar-3	ovarian:	n/a
5	chr5:115314451-115314501	U87	brain:	n/a
6	chr5:115314451-115314501	SK-N-SH_RA	brain:	n/a
7	chr5:115314451-115314501	BE2_C	brain:	n/a
8	chr5:115314451-115314501	HCT-116	colon:	n/a
9	chr5:115314451-115314501	AG09309	skin:	n/a
10	chr5:115314451-115314501	AG04450	lung:	fetal
11	chr5:115314451-115314501	MCF10A-Er-Src	breast:	n/a
12	chr5:115314451-115314501	SK-N-MC	brain:	n/a
13	chr5:115314451-115314501	Hela-S3	cervix:	n/a
14	chr5:115314451-115314501	MCF-7	breast:	n/a
15	chr5:115314451-115314501	ProgFib	skin:	n/a
16	chr5:115314451-115314501	SKMC	muscle:	n/a
17	chr5:115314451-115314501	PANC-1	pancreas:	n/a
18	chr5:115314451-115314501	HIPEpiC	eye:	n/a
19	chr5:115314451-115314501	Caco-2	colon:	n/a
20	chr5:115314451-115314501	HNPCEpiC	eye:	n/a
21	chr5:115314451-115314501	HRE	kidney:	n/a
22	chr5:115314451-115314501	SAEC	small airway:	n/a
23	chr5:115314451-115314501	HCPEpiC	choroid plexus:	n/a
24	chr5:115314451-115314501	SK-N-SH	brain:	n/a
25	chr5:115314451-115314501	HMEC	breast:	n/a
26	chr5:115314451-115314501	ECC-1	luminal epithelium:	n/a
27	chr5:115314451-115314501	AG04449	skin:	fetal
28	chr5:115314451-115314501	HEEpiC	esophagus:	n/a
29	chr5:115314451-115314501	GM19239	blood:	n/a
30	chr5:115314451-115314501	AoSMC	blood vessel:	n/a
31	chr5:115314451-115314501	K562	blood:	n/a
32	chr5:115314451-115314501	HUVEC	blood vessel:	n/a
33	chr5:115314451-115314501	LNCaP	prostate:	n/a
34	chr5:115314451-115314501	GM12878	blood:	n/a
35	chr5:115314451-115314501	HepG2	liver:	n/a
36	chr5:115314451-115314501	HRCEpiC	kidney:	n/a
37	chr5:115314451-115314501	NB4	blood:	n/a
38	chr5:115314451-115314501	HL-60	blood:	n/a
39	chr5:115314451-115314501	NH-A	brain:	n/a
40	chr5:115314451-115314501	NHDF-neo	bronchial:	n/a
41	chr5:115314451-115314501	PrEC	prostate:	n/a
42	chr5:115314451-115314501	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:115314451-115314501	IMR90	lung:	fetal
44	chr5:115314451-115314501	Hepatocyte	liver:	n/a
45	chr5:115314451-115314501	HAEpiC	amniotic membrane:	n/a
46	chr5:115314451-115314501	CMK	blood:	n/a
47	chr5:115314451-115314501	GM06990	blood:	n/a
48	chr5:115314451-115314501	NHBE	bronchial:	n/a
49	chr5:115314451-115314501	RPTEC	kidney:	n/a
50	chr5:115314451-115314501	GM12891	blood:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115314211..115315757-chr5:115317313..115319872,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248295	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10036189	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs10519435	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1445710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1445713	1.00[CHB][hapmap]
rs1508876	1.00[CHB][hapmap]
rs17138513	1.00[CHB][hapmap]
rs17164367	1.00[CHB][hapmap]
rs17164372	1.00[CHB][hapmap]
rs35321827	0.86[EUR][1000 genomes]
rs35479006	0.87[EUR][1000 genomes]
rs36060811	0.87[EUR][1000 genomes]
rs55790902	0.87[EUR][1000 genomes]
rs62384832	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7729821	1.00[CHB][hapmap]
rs9687134	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1027418	chr5:115206256-115446861	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv515611	chr5:115208843-115428381	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1021968	chr5:115213162-115426468	Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1024008	chr5:115222974-115431050	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1027117	chr5:115222974-115442883	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv2763487	chr5:115222986-115442895	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv462400	chr5:115223504-115428381	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv599478	chr5:115223504-115428381	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv1030480	chr5:115228889-115446861	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv599479	chr5:115233116-115450969	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1029427	chr5:115236239-115387283	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv1015976	chr5:115236239-115434163	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv537868	chr5:115236239-115434163	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv882735	chr5:115254723-115377150	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv882736	chr5:115254723-115552945	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	nsv882737	chr5:115263853-115552945	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115312200-115317200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:115312600-115315200	Enhancers	HUVEC	blood vessel
3	chr5:115312800-115314800	Enhancers	HSMMtube	muscle
4	chr5:115312800-115315200	Enhancers	Fetal Muscle Leg	muscle
5	chr5:115313000-115314600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:115313000-115316200	Enhancers	Adipose Nuclei	Adipose
7	chr5:115313000-115316200	Enhancers	NHDF-Ad	bronchial
8	chr5:115313000-115316800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:115313200-115315600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:115313200-115316000	Enhancers	Osteobl	bone
11	chr5:115313200-115316400	Enhancers	Ovary	ovary
12	chr5:115313600-115315000	Enhancers	HSMM	muscle
13	chr5:115313800-115314600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:115313800-115315800	Enhancers	Fetal Lung	lung
15	chr5:115313800-115316200	Enhancers	NHLF	lung
16	chr5:115313800-115317200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:115314000-115315800	Enhancers	Fetal Kidney	kidney
18	chr5:115314000-115316200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:115314200-115315200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:115314200-115315800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:115314200-115316600	Enhancers	GM12878-XiMat	blood
22	chr5:115314400-115314800	Enhancers	Colon Smooth Muscle	Colon
23	chr5:115314400-115314800	Enhancers	NH-A	brain
24	chr5:115314400-115315000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:115314400-115315000	Enhancers	Skeletal Muscle Female	skeletal muscle

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