Variant report

Variant	rs2326013
Chromosome Location	chr17:46619102-46619103
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46618856-46619975	ProgFib	skin:	n/a	n/a
2	YY1	chr17:46618888-46619450	H1-hESC	embryonic stem cell:	n/a	chr17:46619107-46619121 chr17:46619194-46619216 chr17:46619197-46619205 chr17:46619116-46619130 chr17:46619193-46619205
3	POLR2A	chr17:46618007-46622747	K562	blood:	n/a	n/a
4	TBP	chr17:46618760-46620033	K562	blood:	n/a	n/a
5	YY1	chr17:46618860-46619602	SK-N-SH	brain:	n/a	chr17:46619107-46619121 chr17:46619194-46619216 chr17:46619197-46619205 chr17:46619116-46619130 chr17:46619193-46619205
6	TEAD4	chr17:46619034-46619567	K562	blood:	n/a	n/a
7	REST	chr17:46618973-46619148	K562	blood:	n/a	n/a
8	POLR2A	chr17:46616545-46629919	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr17:46616973-46622292	K562	blood:	n/a	n/a
10	POLR2A	chr17:46618264-46620080	K562	blood:	n/a	n/a
11	EGR1	chr17:46618962-46619385	K562	blood:	n/a	chr17:46619092-46619105
12	ELF1	chr17:46618975-46619447	K562	blood:	n/a	chr17:46619284-46619293 chr17:46619089-46619101 chr17:46619366-46619375
13	YY1	chr17:46619005-46619381	SK-N-SH_RA	brain:	n/a	chr17:46619107-46619121 chr17:46619194-46619216 chr17:46619197-46619205 chr17:46619116-46619130 chr17:46619193-46619205
14	YY1	chr17:46618784-46619465	GM12878	blood:	n/a	chr17:46619107-46619121 chr17:46619194-46619216 chr17:46619197-46619205 chr17:46619116-46619130 chr17:46619193-46619205
15	UBTF	chr17:46618433-46622294	K562	blood:	n/a	n/a
16	YY1	chr17:46618587-46619650	H1-hESC	embryonic stem cell:	n/a	chr17:46619107-46619121 chr17:46619194-46619216 chr17:46619197-46619205 chr17:46619116-46619130 chr17:46619193-46619205
17	RAD21	chr17:46618570-46619971	IMR90	lung:	n/a	n/a
18	JUND	chr17:46619035-46619620	K562	blood:	n/a	n/a
19	MAX	chr17:46618793-46619420	K562	blood:	n/a	n/a
20	POU2F2	chr17:46618902-46619362	GM12878	blood:	n/a	chr17:46619089-46619101
21	POLR2A	chr17:46618757-46620044	GM19193	blood:	n/a	n/a
22	ZNF263	chr17:46618615-46619921	HEK293-T-REx	kidney:	n/a	n/a
23	POU2F2	chr17:46618745-46619415	GM12891	blood:	n/a	chr17:46619089-46619101
24	POLR2A	chr17:46618381-46619985	K562	blood:	n/a	n/a
25	POLR2A	chr17:46618885-46619488	GM12891	blood:	n/a	n/a
26	POLR2A	chr17:46618810-46619448	Gliobla	brain:	n/a	n/a
27	GTF2F1	chr17:46619068-46619416	K562	blood:	n/a	n/a
28	MAZ	chr17:46618593-46619958	K562	blood:	n/a	chr17:46619640-46619650
29	HEY1	chr17:46618698-46620046	K562	blood:	n/a	chr17:46619510-46619525
30	UBTF	chr17:46618409-46622293	K562	blood:	n/a	n/a
31	MYC	chr17:46619073-46619435	K562	blood:	n/a	n/a
32	ZMIZ1	chr17:46618488-46619816	K562	blood:	n/a	n/a
33	POLR2A	chr17:46619072-46620063	GM12878	blood:	n/a	n/a
34	POLR2A	chr17:46618573-46620047	GM12878	blood:	n/a	n/a
35	SIN3AK20	chr17:46618541-46620002	PANC-1	pancreas:	n/a	n/a
36	HEY1	chr17:46618693-46619990	K562	blood:	n/a	chr17:46619510-46619525
37	E2F6	chr17:46619071-46619335	K562	blood:	n/a	n/a
38	POLR2A	chr17:46618816-46620023	IMR90	lung:	n/a	n/a
39	YY1	chr17:46618728-46619582	K562	blood:	n/a	chr17:46619107-46619121 chr17:46619194-46619216 chr17:46619197-46619205 chr17:46619116-46619130 chr17:46619193-46619205
40	POLR2A	chr17:46618394-46620004	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr17:46618854-46619477	GM12891	blood:	n/a	n/a
42	POLR2A	chr17:46618296-46623366	K562	blood:	n/a	n/a
43	CHD2	chr17:46618608-46619702	K562	blood:	n/a	n/a
44	PML	chr17:46618663-46620142	K562	blood:	n/a	n/a
45	YY1	chr17:46618922-46619415	SK-N-SH	brain:	n/a	chr17:46619107-46619121 chr17:46619194-46619216 chr17:46619197-46619205 chr17:46619116-46619130 chr17:46619193-46619205
46	YY1	chr17:46618768-46619492	K562	blood:	n/a	chr17:46619107-46619121 chr17:46619194-46619216 chr17:46619197-46619205 chr17:46619116-46619130 chr17:46619193-46619205
47	POLR2A	chr17:46619035-46619355	GM12878	blood:	n/a	n/a
48	POLR2A	chr17:46618956-46620044	GM15510	blood:	n/a	n/a
49	POLR2A	chr17:46618649-46619996	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr17:46618684-46619448	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46619088-46619138	NHDF-neo	bronchial:	n/a
2	chr17:46619088-46619138	CMK	blood:	n/a
3	chr17:46619088-46619138	Hela-S3	cervix:	n/a
4	chr17:46619088-46619138	NB4	blood:	n/a
5	chr17:46619088-46619138	ECC-1	luminal epithelium:	n/a
6	chr17:46619088-46619138	HCF	heart:	n/a
7	chr17:46619088-46619138	HCPEpiC	choroid plexus:	n/a
8	chr17:46619088-46619138	HMEC	breast:	n/a
9	chr17:46619088-46619138	A549	lung:	n/a
10	chr17:46619088-46619138	SKMC	muscle:	n/a
11	chr17:46619088-46619138	MCF10A-Er-Src	breast:	n/a
12	chr17:46619088-46619138	HEK293	kidney:	embryo
13	chr17:46619088-46619138	MCF-7	breast:	n/a
14	chr17:46619088-46619138	AG09309	skin:	n/a
15	chr17:46619088-46619138	AG10803	skin:	n/a
16	chr17:46619088-46619138	HL-60	blood:	n/a
17	chr17:46619088-46619138	NT2-D1	testis:	n/a
18	chr17:46619088-46619138	NH-A	brain:	n/a
19	chr17:46619088-46619138	GM12892	blood:	n/a
20	chr17:46619088-46619138	PANC-1	pancreas:	n/a
21	chr17:46619088-46619138	HPAEpiC	pulmonary alveolar:	n/a
22	chr17:46619088-46619138	NHBE	bronchial:	n/a
23	chr17:46619088-46619138	SK-N-MC	brain:	n/a
24	chr17:46619088-46619138	HRCEpiC	kidney:	n/a
25	chr17:46619088-46619138	RPTEC	kidney:	n/a
26	chr17:46619088-46619138	GM12891	blood:	n/a
27	chr17:46619088-46619138	HUVEC	blood vessel:	n/a
28	chr17:46619088-46619138	GM12878	blood:	n/a
29	chr17:46619088-46619138	HNPCEpiC	eye:	n/a
30	chr17:46619088-46619138	HEEpiC	esophagus:	n/a
31	chr17:46619088-46619138	K562	blood:	n/a
32	chr17:46619088-46619138	HRE	kidney:	n/a
33	chr17:46619088-46619138	T-47D	breast:	n/a
34	chr17:46619088-46619138	LNCaP	prostate:	n/a
35	chr17:46619088-46619138	HIPEpiC	eye:	n/a
36	chr17:46619088-46619138	Jurkat	blood:	n/a
37	chr17:46619088-46619138	PFSK-1	brain:	n/a
38	chr17:46619088-46619138	ovcar-3	ovarian:	n/a
39	chr17:46619088-46619138	PrEC	prostate:	n/a
40	chr17:46619088-46619138	HAEpiC	amniotic membrane:	n/a
41	chr17:46619088-46619138	BJ	skin:	n/a
42	chr17:46619088-46619138	ProgFib	skin:	n/a
43	chr17:46619088-46619138	Caco-2	colon:	n/a
44	chr17:46619088-46619138	Hepatocyte	liver:	n/a
45	chr17:46619088-46619138	AG09319	gingival:	n/a
46	chr17:46619088-46619138	U87	brain:	n/a
47	chr17:46619088-46619138	GM19239	blood:	n/a
48	chr17:46619088-46619138	SAEC	small airway:	n/a
49	chr17:46619088-46619138	HCM	heart:	n/a
50	chr17:46619088-46619138	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46618342..46619854-chr17:46690014..46692247,2	K562	blood:
2	chr17:46618868..46624573-chr17:46700689..46705978,10	K562	blood:
3	chr17:46427006..46429722-chr17:46617606..46619313,2	K562	blood:

Variant related genes	Relation type
HOXB-AS1	TF binding region
HOXB-AS1	CpG island
ENSG00000170689	Chromatin interaction
ENSG00000120068	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10853099	0.81[EUR][1000 genomes]
rs10853100	0.82[EUR][1000 genomes]
rs11079824	0.92[EUR][1000 genomes]
rs11079825	0.82[EUR][1000 genomes]
rs11079826	0.82[EUR][1000 genomes]
rs11079828	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11651168	0.82[EUR][1000 genomes]
rs11652125	0.82[EUR][1000 genomes]
rs11652746	0.81[EUR][1000 genomes]
rs12450225	0.80[EUR][1000 genomes]
rs1509638	0.82[EUR][1000 genomes]
rs1987164	0.87[EUR][1000 genomes]
rs2036764	0.81[EUR][1000 genomes]
rs2740760	0.84[ASN][1000 genomes]
rs4793564	0.82[EUR][1000 genomes]
rs59961340	0.82[EUR][1000 genomes]
rs60859312	0.82[EUR][1000 genomes]
rs62066684	0.82[EUR][1000 genomes]
rs7501529	0.82[EUR][1000 genomes]
rs925284	0.80[EUR][1000 genomes]
rs9892607	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2326013	HOXB3	cis	Whole Blood	GTEx
rs2326013	HOXB2	cis	Whole Blood	GTEx
rs2326013	HOXB-AS1	cis	Whole Blood	GTEx
rs2326013	HOXB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46615400-46619600	Weak transcription	A549	lung
2	chr17:46617600-46620200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:46618000-46619800	Active TSS	Colon Smooth Muscle	Colon
4	chr17:46618200-46622400	Active TSS	Rectal Smooth Muscle	rectum
5	chr17:46618400-46619600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
6	chr17:46618400-46619600	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr17:46618400-46619800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:46618400-46619800	Flanking Bivalent TSS/Enh	Placenta	Placenta
9	chr17:46618400-46619800	Active TSS	Psoas Muscle	Psoas
10	chr17:46618400-46619800	Active TSS	Small Intestine	intestine
11	chr17:46618400-46620000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr17:46618400-46620000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:46618400-46620400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr17:46618400-46620600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr17:46618400-46620600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:46618400-46620600	Bivalent/Poised TSS	Colonic Mucosa	Colon
17	chr17:46618400-46621000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
18	chr17:46618400-46621600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:46618400-46622000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
20	chr17:46618400-46622400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
21	chr17:46618400-46622400	Bivalent/Poised TSS	Thymus	Thymus
22	chr17:46618400-46622600	Active TSS	Right Atrium	heart
23	chr17:46618400-46622600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr17:46618600-46619400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr17:46618600-46619400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:46618600-46619600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:46618600-46619600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
28	chr17:46618600-46619800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:46618600-46619800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr17:46618600-46620000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
31	chr17:46618600-46620000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:46618600-46620000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
33	chr17:46618600-46620800	Active TSS	Lung	lung
34	chr17:46618600-46620800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
35	chr17:46618600-46621200	Transcr. at gene 5' and 3'	NHLF	lung
36	chr17:46618600-46621400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:46618600-46621400	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr17:46618600-46622200	Active TSS	Esophagus	oesophagus
39	chr17:46618600-46622200	Bivalent/Poised TSS	GM12878-XiMat	blood
40	chr17:46618600-46622400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr17:46618600-46622400	Active TSS	Aorta	Aorta
42	chr17:46618600-46622400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr17:46618600-46622600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr17:46618600-46622600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:46618600-46622600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:46618600-46622600	Bivalent/Poised TSS	Fetal Lung	lung
47	chr17:46618800-46619200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:46618800-46619400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:46618800-46619400	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr17:46618800-46619400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain

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