Variant report

Variant	rs57183284
Chromosome Location	chr17:46669456-46669457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr17:46669362-46676749	IMR90	lung:	n/a	chr17:46669880-46669890 chr17:46671209-46671222 chr17:46671209-46671222 chr17:46669884-46669894 chr17:46673053-46673063
2	CHD1	chr17:46662335-46676284	IMR90	lung:	n/a	chr17:46662455-46662465 chr17:46670083-46670093 chr17:46669891-46669901
3	SUZ12	chr17:46669440-46680361	NT2-D1	testis:	n/a	n/a
4	SIN3AK20	chr17:46668635-46670170	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr17:46655911-46684927	PANC-1	pancreas:	n/a	n/a
6	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	chr17:46669455-46669505	HIPEpiC	eye:	n/a
2	chr17:46669455-46669505	NH-A	brain:	n/a
3	chr17:46669455-46669505	HRE	kidney:	n/a
4	chr17:46669455-46669505	RPTEC	kidney:	n/a
5	chr17:46669455-46669505	AoSMC	blood vessel:	n/a
6	chr17:46669455-46669505	PANC-1	pancreas:	n/a
7	chr17:46669455-46669505	ovcar-3	ovarian:	n/a
8	chr17:46669455-46669505	AG09309	skin:	n/a
9	chr17:46669455-46669505	HMEC	breast:	n/a
10	chr17:46669455-46669505	IMR90	lung:	fetal
11	chr17:46669455-46669505	CMK	blood:	n/a
12	chr17:46669455-46669505	NHBE	bronchial:	n/a
13	chr17:46669455-46669505	GM12892	blood:	n/a
14	chr17:46669455-46669505	HRCEpiC	kidney:	n/a
15	chr17:46669455-46669505	A549	lung:	n/a
16	chr17:46669455-46669505	HNPCEpiC	eye:	n/a
17	chr17:46669455-46669505	HEEpiC	esophagus:	n/a
18	chr17:46669455-46669505	BJ	skin:	n/a
19	chr17:46669455-46669505	ProgFib	skin:	n/a
20	chr17:46669455-46669505	MCF-7	breast:	n/a
21	chr17:46669455-46669505	GM19239	blood:	n/a
22	chr17:46669455-46669505	PFSK-1	brain:	n/a
23	chr17:46669455-46669505	HepG2	liver:	n/a
24	chr17:46669455-46669505	Jurkat	blood:	n/a
25	chr17:46669455-46669505	T-47D	breast:	n/a
26	chr17:46669455-46669505	HAEpiC	amniotic membrane:	n/a
27	chr17:46669455-46669505	SAEC	small airway:	n/a
28	chr17:46669455-46669505	GM12891	blood:	n/a
29	chr17:46669455-46669505	HCM	heart:	n/a
30	chr17:46669455-46669505	H1-hESC	embryonic stem cell:	embryo
31	chr17:46669455-46669505	MCF10A-Er-Src	breast:	n/a
32	chr17:46669455-46669505	ECC-1	luminal epithelium:	n/a
33	chr17:46669455-46669505	AG04449	skin:	fetal
34	chr17:46669455-46669505	HUVEC	blood vessel:	n/a
35	chr17:46669455-46669505	SK-N-MC	brain:	n/a
36	chr17:46669455-46669505	NB4	blood:	n/a
37	chr17:46669455-46669505	Caco-2	colon:	n/a
38	chr17:46669455-46669505	SKMC	muscle:	n/a
39	chr17:46669455-46669505	GM12878	blood:	n/a
40	chr17:46669455-46669505	NT2-D1	testis:	n/a
41	chr17:46669455-46669505	Hepatocyte	liver:	n/a
42	chr17:46669455-46669505	BE2_C	brain:	n/a
43	chr17:46669455-46669505	HPAEpiC	pulmonary alveolar:	n/a
44	chr17:46669455-46669505	Hela-S3	cervix:	n/a
45	chr17:46669455-46669505	SK-N-SH_RA	brain:	n/a
46	chr17:46669455-46669505	NHDF-neo	bronchial:	n/a
47	chr17:46669455-46669505	AG09319	gingival:	n/a
48	chr17:46669455-46669505	HRPEpiC	eye:	n/a
49	chr17:46669455-46669505	AG04450	lung:	fetal
50	chr17:46669455-46669505	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46621559..46624647-chr17:46668034..46670671,3	K562	blood:
2	chr17:46555079..46557571-chr17:46668928..46671035,2	K562	blood:

No data

Variant related genes	Relation type
HOXB3	TF binding region
HOXB-AS3	TF binding region
HOXB3	CpG island
HOXB-AS3	CpG island
ENSG00000206805	Chromatin interaction
ENSG00000230148	Chromatin interaction
ENSG00000173917	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28699313	1.00[ASN][1000 genomes]
rs35132860	1.00[ASN][1000 genomes]
rs7223415	1.00[ASN][1000 genomes]
rs9893371	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9897918	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9898155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908329	1.00[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46663200-46672000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr17:46663800-46669600	Weak transcription	Pancreas	Pancrea
3	chr17:46664000-46670000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr17:46665400-46670000	Weak transcription	HSMMtube	muscle
5	chr17:46665600-46672400	Active TSS	NHDF-Ad	bronchial
6	chr17:46666000-46669600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:46666400-46669600	Weak transcription	Adipose Nuclei	Adipose
8	chr17:46666400-46670600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:46666400-46678600	Weak transcription	Hela-S3	cervix
10	chr17:46666800-46671000	Weak transcription	HUVEC	blood vessel
11	chr17:46666800-46671600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr17:46668000-46669800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:46668000-46670000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:46668000-46671200	Weak transcription	K562	blood
15	chr17:46668000-46671600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr17:46668200-46669600	Weak transcription	GM12878-XiMat	blood
17	chr17:46668200-46669800	Genic enhancers	Rectal Mucosa Donor 31	rectum
18	chr17:46668400-46669600	Weak transcription	HMEC	breast
19	chr17:46668400-46669800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:46668400-46670200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:46668600-46669600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
22	chr17:46668600-46669800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:46668800-46670800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr17:46668800-46671400	Bivalent/Poised TSS	Fetal Lung	lung
25	chr17:46669000-46671200	Weak transcription	A549	lung
26	chr17:46669000-46671400	Bivalent/Poised TSS	NH-A	brain
27	chr17:46669000-46672200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:46669200-46670000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr17:46669200-46670400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr17:46669200-46670400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr17:46669200-46671600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:46669200-46671600	Active TSS	Colon Smooth Muscle	Colon
33	chr17:46669200-46671600	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr17:46669200-46672000	Active TSS	Rectal Smooth Muscle	rectum
35	chr17:46669200-46672400	Active TSS	Fetal Kidney	kidney
36	chr17:46669200-46672400	Active TSS	NHLF	lung
37	chr17:46669400-46669600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr17:46669400-46669600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:46669400-46669600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr17:46669400-46669800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr17:46669400-46669800	Flanking Active TSS	Colonic Mucosa	Colon
42	chr17:46669400-46669800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr17:46669400-46670000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
44	chr17:46669400-46670000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:46669400-46670200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr17:46669400-46670400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr17:46669400-46670400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr17:46669400-46670600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:46669400-46670600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr17:46669400-46670800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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