Variant report

Variant	rs9903182
Chromosome Location	chr17:46683837-46683838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr17:46683726-46683951	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr17:46683419-46684861	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr17:46655911-46684927	PANC-1	pancreas:	n/a	n/a
4	CTBP2	chr17:46683262-46683909	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr17:46683702-46684302	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr17:46683815-46683877	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr17:46683789-46684333	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr17:46645331-46684907	PANC-1	pancreas:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46683806-46683856	PFSK-1	brain:	n/a
2	chr17:46683806-46683856	HAEpiC	amniotic membrane:	n/a
3	chr17:46683806-46683856	AG09309	skin:	n/a
4	chr17:46683806-46683856	SK-N-SH	brain:	n/a
5	chr17:46683806-46683856	HRPEpiC	eye:	n/a
6	chr17:46683806-46683856	NHDF-neo	bronchial:	n/a
7	chr17:46683806-46683856	HNPCEpiC	eye:	n/a
8	chr17:46683806-46683856	HL-60	blood:	n/a
9	chr17:46683806-46683856	HEK293	kidney:	embryo
10	chr17:46683806-46683856	PANC-1	pancreas:	n/a
11	chr17:46683806-46683856	HRCEpiC	kidney:	n/a
12	chr17:46683806-46683856	HCT-116	colon:	n/a
13	chr17:46683806-46683856	AG10803	skin:	n/a
14	chr17:46683806-46683856	SKMC	muscle:	n/a
15	chr17:46683806-46683856	HCF	heart:	n/a
16	chr17:46683806-46683856	H1-hESC	embryonic stem cell:	embryo
17	chr17:46683806-46683856	AG04450	lung:	fetal
18	chr17:46683806-46683856	NHBE	bronchial:	n/a
19	chr17:46683806-46683856	CMK	blood:	n/a
20	chr17:46683806-46683856	ProgFib	skin:	n/a
21	chr17:46683806-46683856	HUVEC	blood vessel:	n/a
22	chr17:46683806-46683856	K562	blood:	n/a
23	chr17:46683806-46683856	IMR90	lung:	fetal
24	chr17:46683806-46683856	HCPEpiC	choroid plexus:	n/a
25	chr17:46683806-46683856	GM19239	blood:	n/a
26	chr17:46683806-46683856	NB4	blood:	n/a
27	chr17:46683806-46683856	NT2-D1	testis:	n/a
28	chr17:46683806-46683856	Caco-2	colon:	n/a
29	chr17:46683806-46683856	Hela-S3	cervix:	n/a
30	chr17:46683806-46683856	HPAEpiC	pulmonary alveolar:	n/a
31	chr17:46683806-46683856	RPTEC	kidney:	n/a
32	chr17:46683806-46683856	U87	brain:	n/a
33	chr17:46683806-46683856	Jurkat	blood:	n/a
34	chr17:46683806-46683856	GM12892	blood:	n/a
35	chr17:46683806-46683856	SAEC	small airway:	n/a
36	chr17:46683806-46683856	HMEC	breast:	n/a
37	chr17:46683806-46683856	GM12878	blood:	n/a
38	chr17:46683806-46683856	HRE	kidney:	n/a
39	chr17:46683806-46683856	HEEpiC	esophagus:	n/a
40	chr17:46683806-46683856	SK-N-SH_RA	brain:	n/a
41	chr17:46683806-46683856	AG09319	gingival:	n/a
42	chr17:46683806-46683856	Hepatocyte	liver:	n/a
43	chr17:46683806-46683856	MCF10A-Er-Src	breast:	n/a
44	chr17:46683806-46683856	A549	lung:	n/a
45	chr17:46683806-46683856	BJ	skin:	n/a
46	chr17:46683806-46683856	GM06990	blood:	n/a
47	chr17:46683806-46683856	PrEC	prostate:	n/a
48	chr17:46683806-46683856	ovcar-3	ovarian:	n/a
49	chr17:46683806-46683856	AG04449	skin:	fetal
50	chr17:46683806-46683856	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46675371..46683952-chr17:46685648..46690575,16	MCF-7	breast:
2	chr17:46679267..46681075-chr17:46682371..46684611,3	MCF-7	breast:

No data

Variant related genes	Relation type
HOXB3	TF binding region
HOXB6	TF binding region
HOXB3	CpG island
HOXB6	CpG island
ENSG00000233101	Chromatin interaction
ENSG00000260027	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10853101	0.92[JPT][hapmap]
rs2288276	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2288277	0.82[CHB][hapmap];0.84[AMR][1000 genomes]
rs2288278	0.82[JPT][hapmap]
rs2288279	0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2555109	0.92[ASN][1000 genomes]
rs2740752	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4646992	0.81[AMR][1000 genomes]
rs6504411	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7405452	0.83[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7406170	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7406324	0.82[CHB][hapmap];0.88[AMR][1000 genomes]
rs7406910	1.00[CEU][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs890431	1.00[CEU][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9221	0.83[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9905793	0.83[AMR][1000 genomes]
rs9907987	0.82[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908578	chr17:46592413-46698710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
5	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
6	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
7	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
8	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
9	nsv908580	chr17:46609103-46698710	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
10	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
11	nsv575480	chr17:46617019-46684929	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	nsv908582	chr17:46617019-46698710	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
13	nsv908583	chr17:46617019-46704536	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
14	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
15	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
16	nsv457822	chr17:46620402-46698710	Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
17	nsv575481	chr17:46620402-46698710	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
18	nsv457823	chr17:46620402-46704536	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
19	nsv575482	chr17:46620402-46704536	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
20	nsv457824	chr17:46625519-46693491	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
21	nsv575483	chr17:46625519-46693491	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 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	chr17:46677400-46684000	Active TSS	Fetal Kidney	kidney
2	chr17:46681200-46686000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:46681800-46684600	Active TSS	Colonic Mucosa	Colon
4	chr17:46681800-46686400	Weak transcription	GM12878-XiMat	blood
5	chr17:46682400-46684400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:46682800-46686600	Weak transcription	HSMMtube	muscle
7	chr17:46683000-46684000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:46683000-46684000	Enhancers	NHDF-Ad	bronchial
9	chr17:46683000-46686400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr17:46683000-46686600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:46683000-46686600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:46683200-46684000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:46683200-46684000	Enhancers	Adipose Nuclei	Adipose
14	chr17:46683200-46684000	Weak transcription	HSMM	muscle
15	chr17:46683200-46684000	Enhancers	HUVEC	blood vessel
16	chr17:46683200-46684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:46683200-46684200	Weak transcription	Colon Smooth Muscle	Colon
18	chr17:46683200-46685800	Weak transcription	K562	blood
19	chr17:46683200-46686200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr17:46683400-46684000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:46683400-46684000	Weak transcription	A549	lung
22	chr17:46683400-46685400	Strong transcription	NHLF	lung
23	chr17:46683600-46684000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr17:46683600-46684200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:46683600-46691000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr17:46683800-46684000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr17:46683800-46684000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:46683800-46684000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr17:46683800-46684000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:46683800-46684000	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr17:46683800-46684000	Flanking Active TSS	Hela-S3	cervix
32	chr17:46683800-46684200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:46683800-46684600	Strong transcription	Rectal Smooth Muscle	rectum
34	chr17:46683800-46685400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links