Variant report

Variant	rs1062037
Chromosome Location	chr17:46638154-46638155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46629941-46645329	PANC-1	pancreas:	n/a	n/a
2	ELF1	chr17:46638046-46638359	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:46633030-46638485	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	chr17:46638127-46638177	GM12892	blood:	n/a
2	chr17:46638127-46638177	BJ	skin:	n/a
3	chr17:46638127-46638177	K562	blood:	n/a
4	chr17:46638127-46638177	U87	brain:	n/a
5	chr17:46638127-46638177	HUVEC	blood vessel:	n/a
6	chr17:46638127-46638177	BE2_C	brain:	n/a
7	chr17:46638127-46638177	AG09319	gingival:	n/a
8	chr17:46638127-46638177	HCT-116	colon:	n/a
9	chr17:46638127-46638177	HCPEpiC	choroid plexus:	n/a
10	chr17:46638127-46638177	NH-A	brain:	n/a
11	chr17:46638127-46638177	AG04449	skin:	fetal
12	chr17:46638127-46638177	HRCEpiC	kidney:	n/a
13	chr17:46638127-46638177	PANC-1	pancreas:	n/a
14	chr17:46638127-46638177	NHBE	bronchial:	n/a
15	chr17:46638127-46638177	T-47D	breast:	n/a
16	chr17:46638127-46638177	HEK293	kidney:	embryo
17	chr17:46638127-46638177	HCF	heart:	n/a
18	chr17:46638127-46638177	GM06990	blood:	n/a
19	chr17:46638127-46638177	MCF10A-Er-Src	breast:	n/a
20	chr17:46638127-46638177	HL-60	blood:	n/a
21	chr17:46638127-46638177	SK-N-SH	brain:	n/a
22	chr17:46638127-46638177	HRPEpiC	eye:	n/a
23	chr17:46638127-46638177	GM12891	blood:	n/a
24	chr17:46638127-46638177	HCM	heart:	n/a
25	chr17:46638127-46638177	AG10803	skin:	n/a
26	chr17:46638127-46638177	HepG2	liver:	n/a
27	chr17:46638127-46638177	H1-hESC	embryonic stem cell:	embryo
28	chr17:46638127-46638177	Caco-2	colon:	n/a
29	chr17:46638127-46638177	AoSMC	blood vessel:	n/a
30	chr17:46638127-46638177	SKMC	muscle:	n/a
31	chr17:46638127-46638177	Hela-S3	cervix:	n/a
32	chr17:46638127-46638177	HMEC	breast:	n/a
33	chr17:46638127-46638177	HNPCEpiC	eye:	n/a
34	chr17:46638127-46638177	ECC-1	luminal epithelium:	n/a
35	chr17:46638127-46638177	HIPEpiC	eye:	n/a
36	chr17:46638127-46638177	IMR90	lung:	fetal
37	chr17:46638127-46638177	ovcar-3	ovarian:	n/a
38	chr17:46638127-46638177	SAEC	small airway:	n/a
39	chr17:46638127-46638177	HRE	kidney:	n/a
40	chr17:46638127-46638177	PrEC	prostate:	n/a
41	chr17:46638127-46638177	HPAEpiC	pulmonary alveolar:	n/a
42	chr17:46638127-46638177	AG09309	skin:	n/a
43	chr17:46638127-46638177	Hepatocyte	liver:	n/a
44	chr17:46638127-46638177	Jurkat	blood:	n/a
45	chr17:46638127-46638177	GM19239	blood:	n/a
46	chr17:46638127-46638177	NB4	blood:	n/a
47	chr17:46638127-46638177	HEEpiC	esophagus:	n/a
48	chr17:46638127-46638177	RPTEC	kidney:	n/a
49	chr17:46638127-46638177	ProgFib	skin:	n/a
50	chr17:46638127-46638177	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46629536..46631319-chr17:46636769..46639268,2	MCF-7	breast:

No data

Variant related genes	Relation type
HOXB3	TF binding region
HOXB3	CpG island
ENSG00000120093	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1042818	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1042822	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1123630	0.86[ASN][1000 genomes]
rs12602539	0.80[AFR][1000 genomes]
rs12603976	0.80[AFR][1000 genomes]
rs12946931	0.80[AFR][1000 genomes]
rs12951076	0.98[AMR][1000 genomes]
rs1529334	0.83[ASN][1000 genomes]
rs2229302	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs3087996	0.83[ASN][1000 genomes]
rs34490194	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34527992	0.82[EUR][1000 genomes]
rs34822124	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35624684	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35825473	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646993	0.86[ASN][1000 genomes]
rs4793589	0.90[ASN][1000 genomes]
rs4793937	0.81[ASN][1000 genomes]
rs4793938	0.84[ASN][1000 genomes]
rs4793939	0.90[ASN][1000 genomes]
rs4793943	0.90[ASN][1000 genomes]
rs4793951	0.86[ASN][1000 genomes]
rs56115209	0.88[AMR][1000 genomes]
rs56128659	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs66459980	0.86[ASN][1000 genomes]
rs67412921	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872760	0.86[ASN][1000 genomes]
rs9912500	0.86[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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1062037	HOXB2	cis	Thyroid	GTEx
rs1062037	HOXB2	cis	Adipose Subcutaneous	GTEx
rs1062037	HOXB2	cis	Whole Blood	GTEx
rs1062037	HOXB-AS1	cis	Whole Blood	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46633400-46641000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr17:46633600-46638400	Transcr. at gene 5' and 3'	NHLF	lung
3	chr17:46633600-46638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr17:46633800-46638600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:46634200-46638800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:46634800-46638600	Weak transcription	HSMMtube	muscle
7	chr17:46634800-46639000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:46635000-46638800	Weak transcription	HSMM	muscle
9	chr17:46635000-46639400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr17:46635000-46654600	Weak transcription	Hela-S3	cervix
11	chr17:46635600-46638800	Weak transcription	HUVEC	blood vessel
12	chr17:46636000-46638400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:46636200-46639800	Genic enhancers	Fetal Stomach	stomach
14	chr17:46636200-46640600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
15	chr17:46636400-46639600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:46636400-46639800	Enhancers	A549	lung
17	chr17:46636400-46640600	Enhancers	Adipose Nuclei	Adipose
18	chr17:46636400-46641000	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr17:46636600-46638200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr17:46636600-46641000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr17:46636800-46638400	Bivalent Enhancer	NH-A	brain
22	chr17:46636800-46640000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:46636800-46641200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:46637200-46638400	Enhancers	Fetal Muscle Trunk	muscle
25	chr17:46637200-46639800	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr17:46637400-46638200	Enhancers	Esophagus	oesophagus
27	chr17:46637400-46639200	Enhancers	Rectal Smooth Muscle	rectum
28	chr17:46637400-46639400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:46637400-46641400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr17:46637600-46638800	Enhancers	NHDF-Ad	bronchial
31	chr17:46637600-46639000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:46637600-46639000	Weak transcription	Spleen	Spleen
33	chr17:46637600-46639200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:46637600-46640200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:46637600-46640200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:46637600-46640400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr17:46637800-46638200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr17:46637800-46638200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr17:46637800-46638200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
40	chr17:46637800-46638800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr17:46637800-46641400	Weak transcription	Aorta	Aorta
42	chr17:46638000-46638200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr17:46638000-46638200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr17:46638000-46638200	Bivalent Enhancer	Liver	Liver
45	chr17:46638000-46638200	Enhancers	Fetal Thymus	thymus
46	chr17:46638000-46638200	Strong transcription	K562	blood
47	chr17:46638000-46638400	Flanking Active TSS	Colonic Mucosa	Colon
48	chr17:46638000-46638400	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr17:46638000-46638600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:46638000-46639000	Genic enhancers	Fetal Kidney	kidney

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