Variant report

Variant	rs396445
Chromosome Location	chr17:15244927-15244928
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr17:15244663-15245222	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr17:15244572-15245210	H1-hESC	embryonic stem cell:	n/a	chr17:15244855-15244867 chr17:15244935-15244945
3	TBP	chr17:15244752-15245051	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr17:15244834-15245152	K562	blood:	n/a	n/a
5	MAX	chr17:15244707-15245125	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr17:15244747-15244941	H1-hESC	embryonic stem cell:	n/a	chr17:15244899-15244909
7	SP1	chr17:15244609-15245285	A549	lung:	n/a	chr17:15245113-15245125 chr17:15244851-15244865 chr17:15245115-15245124 chr17:15244938-15244949
8	CHD2	chr17:15244854-15245049	K562	blood:	n/a	n/a
9	MAX	chr17:15244330-15245314	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP2	chr17:15244823-15245226	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F4	chr17:15244874-15245227	MCF10A-Er-Src	breast:	n/a	chr17:15244935-15244945
12	MAX	chr17:15244720-15245210	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr17:15244768-15245101	K562	blood:	n/a	n/a
14	MAX	chr17:15244207-15245443	A549	lung:	n/a	n/a
15	RAD21	chr17:15244748-15245091	H1-hESC	embryonic stem cell:	n/a	n/a
16	NFYB	chr17:15244772-15245234	K562	blood:	n/a	n/a
17	SP1	chr17:15244536-15245370	A549	lung:	n/a	chr17:15245113-15245125 chr17:15244851-15244865 chr17:15245115-15245124 chr17:15244938-15244949
18	POLR2A	chr17:15244803-15244974	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF1	chr17:15244827-15245166	K562	blood:	n/a	n/a
20	MXI1	chr17:15243882-15245344	SK-N-SH	brain:	n/a	n/a
21	SIN3A	chr17:15244325-15245455	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr17:15244824-15245240	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr17:15244305-15245289	A549	lung:	n/a	n/a
24	E2F6	chr17:15244703-15245275	A549	lung:	n/a	chr17:15244855-15244867 chr17:15244935-15244945
25	MXI1	chr17:15244467-15245226	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr17:15244650-15245126	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr17:15244656-15245250	SK-N-SH	brain:	n/a	n/a
28	ZBTB7A	chr17:15244685-15245050	ECC-1	luminal epithelium:	n/a	n/a
29	CREB1	chr17:15244742-15245292	ECC-1	luminal epithelium:	n/a	n/a
30	PBX3	chr17:15244761-15245310	SK-N-SH	brain:	n/a	n/a
31	MAX	chr17:15244344-15245290	SK-N-SH	brain:	n/a	n/a
32	MAX	chr17:15244644-15245314	ECC-1	luminal epithelium:	n/a	n/a
33	IRF1	chr17:15244868-15245130	K562	blood:	n/a	chr17:15244936-15244950
34	E2F6	chr17:15244877-15245148	K562	blood:	n/a	chr17:15244935-15244945
35	CREB1	chr17:15244715-15245248	ECC-1	luminal epithelium:	n/a	n/a
36	CREB1	chr17:15244675-15245263	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZBTB7A	chr17:15244772-15244937	K562	blood:	n/a	n/a
38	SIN3AK20	chr17:15244691-15245080	A549	lung:	n/a	n/a
39	E2F6	chr17:15244287-15245455	A549	lung:	n/a	chr17:15244855-15244867 chr17:15244935-15244945
40	MAX	chr17:15244339-15245370	A549	lung:	n/a	n/a
41	MAX	chr17:15244736-15245258	MCF-7	breast:	n/a	n/a
42	NFYA	chr17:15244817-15245172	K562	blood:	n/a	n/a
43	PBX3	chr17:15244745-15245269	SK-N-SH	brain:	n/a	n/a
44	SP1	chr17:15244626-15245281	H1-hESC	embryonic stem cell:	n/a	chr17:15245113-15245125 chr17:15244851-15244865 chr17:15245115-15245124 chr17:15244938-15244949
45	E2F6	chr17:15244329-15245391	H1-hESC	embryonic stem cell:	n/a	chr17:15244855-15244867 chr17:15244935-15244945
46	SP1	chr17:15244711-15245248	H1-hESC	embryonic stem cell:	n/a	chr17:15245113-15245125 chr17:15244851-15244865 chr17:15245115-15245124 chr17:15244938-15244949
47	POLR2A	chr17:15244920-15244970	Gliobla	brain:	n/a	n/a
48	MAX	chr17:15244627-15245275	A549	lung:	n/a	n/a
49	E2F6	chr17:15244890-15245073	K562	blood:	n/a	chr17:15244935-15244945
50	CREB1	chr17:15244803-15245126	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15244887-15244937	ProgFib	skin:	n/a
2	chr17:15244887-15244937	PrEC	prostate:	n/a
3	chr17:15244887-15244937	GM12892	blood:	n/a
4	chr17:15244887-15244937	CMK	blood:	n/a
5	chr17:15244887-15244937	MCF-7	breast:	n/a
6	chr17:15244887-15244937	ECC-1	luminal epithelium:	n/a
7	chr17:15244887-15244937	Jurkat	blood:	n/a
8	chr17:15244887-15244937	GM12891	blood:	n/a
9	chr17:15244887-15244937	HCM	heart:	n/a
10	chr17:15244887-15244937	HEK293	kidney:	embryo
11	chr17:15244887-15244937	SK-N-MC	brain:	n/a
12	chr17:15244887-15244937	BJ	skin:	n/a
13	chr17:15244887-15244937	NB4	blood:	n/a
14	chr17:15244887-15244937	HCF	heart:	n/a
15	chr17:15244887-15244937	SKMC	muscle:	n/a
16	chr17:15244887-15244937	NT2-D1	testis:	n/a
17	chr17:15244887-15244937	HEEpiC	esophagus:	n/a
18	chr17:15244887-15244937	HRCEpiC	kidney:	n/a
19	chr17:15244887-15244937	HCPEpiC	choroid plexus:	n/a
20	chr17:15244887-15244937	NHBE	bronchial:	n/a
21	chr17:15244887-15244937	SAEC	small airway:	n/a
22	chr17:15244887-15244937	SK-N-SH_RA	brain:	n/a
23	chr17:15244887-15244937	HepG2	liver:	n/a
24	chr17:15244887-15244937	K562	blood:	n/a
25	chr17:15244887-15244937	U87	brain:	n/a
26	chr17:15244887-15244937	LNCaP	prostate:	n/a
27	chr17:15244887-15244937	HRPEpiC	eye:	n/a
28	chr17:15244887-15244937	HUVEC	blood vessel:	n/a
29	chr17:15244887-15244937	AG09319	gingival:	n/a
30	chr17:15244887-15244937	AG10803	skin:	n/a
31	chr17:15244887-15244937	HNPCEpiC	eye:	n/a
32	chr17:15244887-15244937	MCF10A-Er-Src	breast:	n/a
33	chr17:15244887-15244937	GM19239	blood:	n/a
34	chr17:15244887-15244937	Hepatocyte	liver:	n/a
35	chr17:15244887-15244937	HL-60	blood:	n/a
36	chr17:15244887-15244937	HRE	kidney:	n/a
37	chr17:15244887-15244937	NHDF-neo	bronchial:	n/a
38	chr17:15244887-15244937	PANC-1	pancreas:	n/a
39	chr17:15244887-15244937	AG09309	skin:	n/a
40	chr17:15244887-15244937	A549	lung:	n/a
41	chr17:15244887-15244937	ovcar-3	ovarian:	n/a
42	chr17:15244887-15244937	RPTEC	kidney:	n/a
43	chr17:15244887-15244937	AG04449	skin:	fetal
44	chr17:15244887-15244937	NH-A	brain:	n/a
45	chr17:15244887-15244937	T-47D	breast:	n/a
46	chr17:15244887-15244937	H1-hESC	embryonic stem cell:	embryo
47	chr17:15244887-15244937	HIPEpiC	eye:	n/a
48	chr17:15244887-15244937	GM12878	blood:	n/a
49	chr17:15244887-15244937	HMEC	breast:	n/a
50	chr17:15244887-15244937	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
TEKT3	TF binding region
TEKT3	CpG island

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12937472	0.83[ASN][1000 genomes]
rs230888	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs230889	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs230892	0.87[ASN][1000 genomes]
rs230901	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs230903	0.99[ASN][1000 genomes]
rs230904	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs230905	0.88[ASN][1000 genomes]
rs230906	0.99[ASN][1000 genomes]
rs230907	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs230909	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs230910	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs230970	0.89[ASN][1000 genomes]
rs230977	0.90[ASN][1000 genomes]
rs2531955	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs364785	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs372882	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs394106	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[ASN][1000 genomes]
rs395945	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs396895	0.99[ASN][1000 genomes]
rs399666	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs401664	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs406112	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs414494	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs417637	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs427476	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs427531	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs433068	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs433993	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs446597	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs450848	0.99[ASN][1000 genomes]
rs561167	0.99[ASN][1000 genomes]
rs609537	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15244200-15245000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
2	chr17:15244200-15245000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:15244200-15245000	Active TSS	Ovary	ovary
4	chr17:15244200-15245200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr17:15244200-15245200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr17:15244200-15245200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:15244200-15245200	Active TSS	Brain Angular Gyrus	brain
8	chr17:15244200-15245200	Active TSS	Brain Cingulate Gyrus	brain
9	chr17:15244200-15245200	Active TSS	Brain Hippocampus Middle	brain
10	chr17:15244200-15245200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr17:15244200-15245200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:15244200-15245200	Active TSS	Colon Smooth Muscle	Colon
13	chr17:15244200-15245200	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr17:15244200-15245200	Active TSS	Fetal Intestine Large	intestine
15	chr17:15244200-15245200	Active TSS	Fetal Kidney	kidney
16	chr17:15244200-15245200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr17:15244200-15245200	Active TSS	Rectal Smooth Muscle	rectum
18	chr17:15244200-15245400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr17:15244200-15245400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr17:15244200-15245400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:15244200-15245400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:15244200-15245400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr17:15244200-15245400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr17:15244200-15245400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr17:15244200-15245400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr17:15244200-15245400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:15244200-15245400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr17:15244200-15245400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr17:15244200-15245400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:15244200-15245400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr17:15244200-15245400	Active TSS	Colonic Mucosa	Colon
32	chr17:15244200-15245400	Active TSS	Right Ventricle	heart
33	chr17:15244200-15245400	Bivalent/Poised TSS	A549	lung
34	chr17:15244200-15245400	Flanking Bivalent TSS/Enh	Osteobl	bone
35	chr17:15244200-15245600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr17:15244200-15245600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:15244400-15245000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:15244400-15245000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:15244400-15245000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:15244400-15245000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr17:15244400-15245000	Bivalent/Poised TSS	Thymus	Thymus
42	chr17:15244400-15245000	Flanking Bivalent TSS/Enh	HMEC	breast
43	chr17:15244400-15245000	Flanking Bivalent TSS/Enh	NH-A	brain
44	chr17:15244400-15245200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:15244400-15245200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:15244400-15245200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr17:15244400-15245200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
48	chr17:15244400-15245200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
49	chr17:15244400-15245200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:15244400-15245200	Active TSS	Brain Substantia Nigra	brain

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