Variant report

Variant	rs7406324
Chromosome Location	chr17:46654947-46654948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46654007-46655302	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr17:46654912-46655393	ECC-1	luminal epithelium:	n/a	chr17:46655193-46655203
3	POLR2A	chr17:46653832-46656965	K562	blood:	n/a	n/a
4	POLR2A	chr17:46654099-46657776	K562	blood:	n/a	n/a
5	TEAD4	chr17:46654841-46655383	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr17:46653980-46655428	PANC-1	pancreas:	n/a	n/a
7	EP300	chr17:46654836-46655140	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:46654056-46655155	U87	brain:	n/a	n/a
9	TCF7L2	chr17:46654623-46655306	PANC-1	pancreas:	n/a	chr17:46655010-46655019 chr17:46655012-46655019
10	POLR2A	chr17:46652443-46656956	K562	blood:	n/a	n/a
11	ZNF263	chr17:46654282-46655287	HEK293-T-REx	kidney:	n/a	chr17:46654981-46655002 chr17:46654904-46654925
12	POLR2A	chr17:46654085-46655083	U87	brain:	n/a	n/a
13	RAD21	chr17:46654737-46655012	IMR90	lung:	n/a	n/a
14	IRF1	chr17:46654817-46655212	K562	blood:	n/a	n/a
15	POLR2A	chr17:46654062-46655149	U87	brain:	n/a	n/a
16	YY1	chr17:46654934-46655371	GM12878	blood:	n/a	n/a
17	POLR2A	chr17:46654012-46655414	K562	blood:	n/a	n/a
18	YY1	chr17:46654923-46656205	K562	blood:	n/a	n/a
19	TEAD4	chr17:46654008-46656463	K562	blood:	n/a	n/a
20	NFIC	chr17:46654813-46655335	ECC-1	luminal epithelium:	n/a	n/a
21	TEAD4	chr17:46654885-46655414	ECC-1	luminal epithelium:	n/a	n/a
22	HEY1	chr17:46654040-46655408	K562	blood:	n/a	n/a
23	TCF12	chr17:46654828-46655421	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr17:46654017-46655423	ECC-1	luminal epithelium:	n/a	n/a
25	JUND	chr17:46654871-46655262	K562	blood:	n/a	n/a
26	POLR2A	chr17:46654136-46655013	ProgFib	skin:	n/a	n/a
27	POLR2A	chr17:46654629-46655042	ECC-1	luminal epithelium:	n/a	n/a
28	HEY1	chr17:46654820-46655115	K562	blood:	n/a	n/a
29	EGR1	chr17:46654017-46654976	HCT-116	colon:	n/a	chr17:46654693-46654706 chr17:46654692-46654707
30	ESR1	chr17:46654905-46655153	ECC-1	luminal epithelium:	n/a	n/a
31	NR3C1	chr17:46654821-46655213	ECC-1	luminal epithelium:	n/a	n/a
32	UBTF	chr17:46654046-46658362	K562	blood:	n/a	n/a
33	EP300	chr17:46654780-46655387	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr17:46654623-46655070	U87	brain:	n/a	n/a
35	EP300	chr17:46653791-46655598	ECC-1	luminal epithelium:	n/a	chr17:46654401-46654415
36	POLR2A	chr17:46654089-46655109	IMR90	lung:	n/a	n/a
37	TBP	chr17:46654816-46656625	K562	blood:	n/a	n/a
38	POLR2A	chr17:46654102-46656926	K562	blood:	n/a	n/a
39	POLR2A	chr17:46654919-46656704	K562	blood:	n/a	n/a
40	POLR2A	chr17:46654001-46657126	K562	blood:	n/a	n/a
41	CTBP2	chr17:46654124-46655257	H1-hESC	embryonic stem cell:	n/a	n/a
42	UBTF	chr17:46654077-46656696	K562	blood:	n/a	n/a
43	POLR2A	chr17:46654040-46657048	K562	blood:	n/a	n/a
44	POLR2A	chr17:46654120-46655422	K562	blood:	n/a	n/a
45	POLR2A	chr17:46654052-46657160	HUVEC	blood vessel:	n/a	n/a
46	TCF12	chr17:46654718-46655460	ECC-1	luminal epithelium:	n/a	n/a
47	SUZ12	chr17:46653107-46661081	NT2-D1	testis:	n/a	n/a
48	MAZ	chr17:46654025-46656554	K562	blood:	n/a	chr17:46655193-46655203
49	ZNF143	chr17:46654572-46655033	K562	blood:	n/a	n/a
50	SIN3AK20	chr17:46654809-46655887	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46582924..46585539-chr17:46653556..46656243,2	MCF-7	breast:
2	chr17:46517956..46520413-chr17:46654283..46656139,2	K562	blood:

No data

Variant related genes	Relation type
HOXB3	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11652148	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1553755	0.81[GIH][hapmap]
rs2288276	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2288277	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288279	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2740752	0.92[CHB][hapmap]
rs3826542	0.89[JPT][hapmap]
rs4646992	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6504380	0.83[ASN][1000 genomes]
rs6504389	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6504397	0.80[ASW][hapmap]
rs6504411	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs733920	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7405452	0.89[ASW][hapmap];0.91[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7406170	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7406798	0.80[ASW][hapmap]
rs7406910	0.86[AMR][1000 genomes]
rs7503053	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7503235	0.83[ASN][1000 genomes]
rs890431	0.88[AMR][1000 genomes]
rs9221	0.91[CEU][hapmap];0.82[CHB][hapmap];0.85[MEX][hapmap];0.88[AMR][1000 genomes]
rs9903182	0.82[CHB][hapmap];0.88[AMR][1000 genomes]
rs9905793	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9907987	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46650600-46655200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:46652800-46656000	Bivalent/Poised TSS	NH-A	brain
3	chr17:46653000-46655000	Enhancers	Primary B cells from cord blood	blood
4	chr17:46653000-46655200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:46653000-46657200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:46653200-46655400	Bivalent/Poised TSS	Psoas Muscle	Psoas
7	chr17:46653200-46655400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr17:46653200-46656400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
9	chr17:46653400-46655200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr17:46653400-46660400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr17:46653600-46655200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:46653600-46655600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
13	chr17:46653600-46656400	Active TSS	Lung	lung
14	chr17:46653600-46656400	Active TSS	HSMM	muscle
15	chr17:46653600-46656800	Active TSS	Esophagus	oesophagus
16	chr17:46653600-46657600	Active TSS	Right Atrium	heart
17	chr17:46653600-46660200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:46653800-46655000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
19	chr17:46653800-46656200	Active TSS	NHLF	lung
20	chr17:46653800-46656400	Active TSS	K562	blood
21	chr17:46653800-46656600	Active TSS	Fetal Kidney	kidney
22	chr17:46653800-46658000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:46653800-46658000	Active TSS	Colon Smooth Muscle	Colon
24	chr17:46653800-46658400	Active TSS	NHDF-Ad	bronchial
25	chr17:46654000-46655000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr17:46654000-46656200	Active TSS	Aorta	Aorta
27	chr17:46654000-46656600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:46654200-46655000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:46654200-46655000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr17:46654200-46655000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
31	chr17:46654200-46655000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr17:46654200-46655000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr17:46654200-46655200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:46654200-46655200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
35	chr17:46654200-46655200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
36	chr17:46654200-46655200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr17:46654200-46655200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr17:46654200-46655200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr17:46654200-46655200	Enhancers	Spleen	Spleen
40	chr17:46654200-46655400	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr17:46654200-46655400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr17:46654200-46655400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr17:46654200-46655400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr17:46654200-46655400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr17:46654200-46655400	Flanking Bivalent TSS/Enh	Thymus	Thymus
46	chr17:46654200-46656800	Flanking Active TSS	Colonic Mucosa	Colon
47	chr17:46654200-46657200	Active TSS	HSMMtube	muscle
48	chr17:46654400-46655000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:46654400-46655000	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr17:46654400-46655000	Flanking Active TSS	HUVEC	blood vessel

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