Variant report

Variant	esv3408090
Chromosome Location	chr15:43172709-43207571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:156)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:156 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:43201623-43201823	K562	blood:	n/a	n/a
2	ARID3A	chr15:43195629-43195773	K562	blood:	n/a	n/a
3	ARID3A	chr15:43203332-43203532	HepG2	liver:	n/a	n/a
4	ATF2	chr15:43182779-43183086	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr15:43200945-43201043	K562	blood:	n/a	n/a
6	BATF	chr15:43183826-43184145	GM12878	blood:	n/a	chr15:43183946-43183957
7	BATF	chr15:43186195-43186482	GM12878	blood:	n/a	n/a
8	BATF	chr15:43196188-43196507	GM12878	blood:	n/a	n/a
9	BATF	chr15:43196217-43196391	GM12878	blood:	n/a	n/a
10	CEBPB	chr15:43203401-43203581	A549	lung:	n/a	chr15:43203404-43203415
11	CEBPB	chr15:43182737-43183252	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr15:43203248-43203593	IMR90	lung:	n/a	chr15:43203404-43203415
13	CEBPB	chr15:43203303-43203569	HepG2	liver:	n/a	chr15:43203404-43203415
14	CEBPB	chr15:43203302-43203555	K562	blood:	n/a	chr15:43203404-43203415
15	CEBPB	chr15:43182740-43183284	IMR90	lung:	n/a	n/a
16	CEBPB	chr15:43196390-43196412	K562	blood:	n/a	n/a
17	CEBPB	chr15:43203284-43203602	Hela-S3	cervix:	n/a	chr15:43203404-43203415
18	CTCF	chr15:43199409-43199488	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr15:43199000-43199150	GM06990	blood:	n/a	n/a
20	CTCF	chr15:43199152-43199214	Pancreas_OC	pancreas:	n/a	n/a
21	CTCF	chr15:43188116-43188171	GM20000	blood:	n/a	n/a
22	CTCF	chr15:43199108-43199187	GM10248	blood:	n/a	n/a
23	CTCF	chr15:43201598-43201633	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr15:43181857-43181918	Lung_OC	lung:	n/a	n/a
25	CTCF	chr15:43199383-43199548	K562	blood:	n/a	n/a
26	CTCF	chr15:43199405-43199526	K562	blood:	n/a	n/a
27	CTCF	chr15:43180370-43180400	Lung_OC	lung:	n/a	n/a
28	CTCF	chr15:43186120-43186270	Hela-S3	cervix:	n/a	n/a
29	CUX1	chr15:43196341-43196403	K562	blood:	n/a	n/a
30	E2F4	chr15:43183897-43184126	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr15:43174813-43174964	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr15:43176159-43176324	MCF10A-Er-Src	breast:	n/a	n/a
33	EBF1	chr15:43183787-43184145	GM12878	blood:	n/a	n/a
34	EBF1	chr15:43183857-43184174	GM12878	blood:	n/a	n/a
35	EBF1	chr15:43183760-43184251	GM12878	blood:	n/a	n/a
36	EP300	chr15:43182746-43183052	Hela-S3	cervix:	n/a	n/a
37	FOS	chr15:43183909-43184126	MCF10A-Er-Src	breast:	n/a	chr15:43183944-43183955
38	FOS	chr15:43183731-43184183	HUVEC	blood vessel:	n/a	chr15:43183944-43183955
39	FOS	chr15:43200778-43201091	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr15:43182680-43183007	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr15:43203313-43203554	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr15:43203289-43203584	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr15:43182578-43183158	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr15:43203278-43203586	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr15:43182664-43183170	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr15:43183861-43184061	MCF10A-Er-Src	breast:	n/a	chr15:43183944-43183955
47	FOS	chr15:43182674-43183150	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr15:43182656-43183086	HUVEC	blood vessel:	n/a	n/a
49	FOS	chr15:43200792-43201116	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr15:43203247-43203597	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:43183056-43183106	GM06990	blood:	n/a
2	chr15:43183056-43183106	NB4	blood:	n/a
3	chr15:43183056-43183106	HNPCEpiC	eye:	n/a
4	chr15:43183056-43183106	HMEC	breast:	n/a
5	chr15:43183056-43183106	HEK293	kidney:	embryo
6	chr15:43183056-43183106	SK-N-SH	brain:	n/a
7	chr15:43183056-43183106	HepG2	liver:	n/a
8	chr15:43183056-43183106	CMK	blood:	n/a
9	chr15:43183056-43183106	BJ	skin:	n/a
10	chr15:43183056-43183106	SK-N-SH_RA	brain:	n/a
11	chr15:43183056-43183106	GM12878	blood:	n/a
12	chr15:43183056-43183106	BE2_C	brain:	n/a
13	chr15:43183056-43183106	AG04449	skin:	fetal
14	chr15:43183056-43183106	PrEC	prostate:	n/a
15	chr15:43183056-43183106	RPTEC	kidney:	n/a
16	chr15:43183056-43183106	ECC-1	luminal epithelium:	n/a
17	chr15:43183056-43183106	MCF10A-Er-Src	breast:	n/a
18	chr15:43183056-43183106	HUVEC	blood vessel:	n/a
19	chr15:43183056-43183106	NHBE	bronchial:	n/a
20	chr15:43183056-43183106	HCM	heart:	n/a
21	chr15:43183056-43183106	LNCaP	prostate:	n/a
22	chr15:43183056-43183106	NH-A	brain:	n/a
23	chr15:43183056-43183106	ovcar-3	ovarian:	n/a
24	chr15:43183056-43183106	PFSK-1	brain:	n/a
25	chr15:43183056-43183106	HPAEpiC	pulmonary alveolar:	n/a
26	chr15:43183056-43183106	HAEpiC	amniotic membrane:	n/a
27	chr15:43183056-43183106	K562	blood:	n/a
28	chr15:43183056-43183106	MCF-7	breast:	n/a
29	chr15:43183056-43183106	SAEC	small airway:	n/a
30	chr15:43183056-43183106	HCT-116	colon:	n/a
31	chr15:43183056-43183106	Hela-S3	cervix:	n/a
32	chr15:43183056-43183106	U87	brain:	n/a
33	chr15:43183056-43183106	PANC-1	pancreas:	n/a
34	chr15:43183056-43183106	A549	lung:	n/a
35	chr15:43183056-43183106	Jurkat	blood:	n/a
36	chr15:43183056-43183106	AoSMC	blood vessel:	n/a
37	chr15:43183056-43183106	GM19239	blood:	n/a
38	chr15:43183056-43183106	HEEpiC	esophagus:	n/a
39	chr15:43183056-43183106	HCPEpiC	choroid plexus:	n/a
40	chr15:43183056-43183106	HRE	kidney:	n/a
41	chr15:43183056-43183106	HRPEpiC	eye:	n/a
42	chr15:43183056-43183106	NHDF-neo	bronchial:	n/a
43	chr15:43183056-43183106	AG10803	skin:	n/a
44	chr15:43183056-43183106	AG04450	lung:	fetal
45	chr15:43183056-43183106	HIPEpiC	eye:	n/a
46	chr15:43183056-43183106	ProgFib	skin:	n/a
47	chr15:43183056-43183106	Caco-2	colon:	n/a
48	chr15:43183056-43183106	IMR90	lung:	fetal
49	chr15:43183056-43183106	GM12892	blood:	n/a
50	chr15:43183056-43183106	SK-N-MC	brain:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:43201553..43203286-chr15:43204467..43206953,2	K562	blood:
2	chr15:43197523..43199091-chr15:43202841..43204475,2	K562	blood:
3	chr15:43196236..43198232-chr15:43199329..43201446,2	K562	blood:
4	chr15:43197523..43199091-chr15:43202841..43204475,2	K562	blood:
5	chr15:43201061..43205182-chr15:43207494..43209457,4	K562	blood:
6	chr15:43204600..43210679-chr15:43210946..43214208,10	K562	blood:
7	chr15:43201061..43205182-chr15:43207494..43209457,4	K562	blood:
8	chr15:43169823..43171405-chr15:43172916..43175738,2	K562	blood:
9	chr15:43094398..43098116-chr15:43199741..43201552,3	K562	blood:
10	chr15:43192591..43195469-chr15:43198395..43200582,2	K562	blood:
11	chr15:43201553..43203286-chr15:43204467..43206953,2	K562	blood:
12	chr15:43194424..43196390-chr15:43210753..43213420,2	K562	blood:

No data

Variant related genes	Relation type
TTBK2	TF binding region
TTBK2	CpG island
ENSG00000260799	chromatin interactions
ENSG00000128881	chromatin interactions

Extended variants
information (count: 1138 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1138 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191576315	chr15:43172716-43172717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538556842	chr15:43172731-43172732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114783811	chr15:43172732-43172733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117983386	chr15:43172763-43172764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143276216	chr15:43172799-43172800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147881527	chr15:43172803-43172804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574203301	chr15:43173012-43173013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201229257	chr15:43173120-43173121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182099706	chr15:43173121-43173122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141504456	chr15:43173126-43173127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377550668	chr15:43173154-43173155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367714539	chr15:43173189-43173190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28542639	chr15:43173261-43173262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147114996	chr15:43173300-43173301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186299580	chr15:43173305-43173306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550184681	chr15:43173359-43173360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566890062	chr15:43173397-43173398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572423786	chr15:43173444-43173445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535949266	chr15:43173449-43173450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10717895	chr15:43173481-43173482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397797261	chr15:43173505-43173506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144064267	chr15:43173506-43173507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201355509	chr15:43173544-43173545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199903053	chr15:43173545-43173546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546624969	chr15:43173602-43173603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566438062	chr15:43173717-43173718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576208099	chr15:43173719-43173720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538864561	chr15:43173797-43173798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543054015	chr15:43173798-43173799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57419059	chr15:43173821-43173822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538108614	chr15:43173867-43173868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557405867	chr15:43173881-43173882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531869992	chr15:43173891-43173892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182460135	chr15:43173952-43173953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541728497	chr15:43173977-43173978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542652989	chr15:43173983-43173984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138598503	chr15:43174009-43174010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115342811	chr15:43174050-43174051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550381158	chr15:43174055-43174056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565111641	chr15:43174074-43174075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531126962	chr15:43174186-43174187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201324326	chr15:43174196-43174197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550820457	chr15:43174211-43174212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560551800	chr15:43174241-43174242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186665470	chr15:43174268-43174269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546266578	chr15:43174336-43174337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374173638	chr15:43174417-43174418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537595830	chr15:43174434-43174435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532087753	chr15:43174506-43174507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189873936	chr15:43174509-43174510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43103400-43173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:43125400-43173600	Weak transcription	Hela-S3	cervix
3	chr15:43132000-43186800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr15:43132400-43172800	Weak transcription	Ovary	ovary
5	chr15:43136800-43182400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:43142400-43182400	Weak transcription	Lung	lung
7	chr15:43151600-43182400	Weak transcription	Aorta	Aorta
8	chr15:43151800-43173000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:43151800-43178600	Weak transcription	Placenta	Placenta
10	chr15:43154200-43174000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:43154600-43182400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:43155000-43182600	Weak transcription	Primary T cells from cord blood	blood
13	chr15:43156000-43172800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:43163400-43176800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:43166200-43175000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:43172000-43172800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:43172200-43174000	Weak transcription	Esophagus	oesophagus
18	chr15:43172400-43172800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:43172600-43172800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr15:43172600-43172800	Enhancers	Left Ventricle	heart
21	chr15:43172800-43173000	Enhancers	Brain Cingulate Gyrus	brain
22	chr15:43172800-43173000	Enhancers	Ovary	ovary
23	chr15:43172800-43173200	Weak transcription	Left Ventricle	heart
24	chr15:43175000-43175200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:43176800-43177000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:43177600-43182400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:43177800-43185400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:43178600-43179200	Enhancers	Placenta	Placenta
29	chr15:43178600-43182600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:43179200-43180200	Weak transcription	Placenta	Placenta
31	chr15:43179800-43180000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:43179800-43180000	Enhancers	NHEK	skin
33	chr15:43179800-43180200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:43180000-43181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:43180200-43181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:43180200-43185600	Enhancers	Placenta	Placenta
37	chr15:43180600-43180800	Enhancers	Psoas Muscle	Psoas
38	chr15:43180600-43180800	Enhancers	Right Ventricle	heart
39	chr15:43180800-43182400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr15:43180800-43182800	Weak transcription	Right Ventricle	heart
41	chr15:43181000-43182400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:43181000-43182600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr15:43181000-43182800	Weak transcription	Psoas Muscle	Psoas
44	chr15:43181000-43184000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:43181400-43182400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr15:43181600-43182000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr15:43181600-43182400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr15:43181800-43182400	Enhancers	NHEK	skin
49	chr15:43181800-43184400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr15:43181800-43184400	Enhancers	HUVEC	blood vessel

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