Variant report

Variant	esv3400601
Chromosome Location	chr7:14053977-14056875
allele	n/a
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	EP300	chr7:14053489-14053981	SK-N-SH_RA	brain:	n/a	chr7:14053855-14053864 chr7:14053856-14053865 chr7:14053964-14053978
2	EP300	chr7:14056462-14057121	SK-N-SH	brain:	n/a	n/a
3	FOSL2	chr7:14053539-14054123	SK-N-SH	brain:	n/a	chr7:14053856-14053864 chr7:14053855-14053864 chr7:14053857-14053864 chr7:14053856-14053865
4	GATA3	chr7:14056406-14057207	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr7:14054675-14054834	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr7:14053116-14054131	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr7:14053344-14054120	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr7:14056454-14057136	SK-N-SH	brain:	n/a	n/a
9	IRF1	chr7:14056133-14056157	K562	blood:	n/a	n/a
10	JUND	chr7:14056486-14057029	SK-N-SH	brain:	n/a	chr7:14056540-14056549
11	JUND	chr7:14053454-14054117	SK-N-SH	brain:	n/a	chr7:14053856-14053864 chr7:14053855-14053864 chr7:14053857-14053864 chr7:14053856-14053865
12	JUND	chr7:14053373-14054085	SK-N-SH	brain:	n/a	chr7:14053856-14053864 chr7:14053855-14053864 chr7:14053857-14053864 chr7:14053856-14053865
13	NFIC	chr7:14056490-14057086	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr7:14056526-14057022	SK-N-SH	brain:	n/a	n/a
15	PBX3	chr7:14053307-14054134	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr7:14056471-14057103	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr7:14056017-14056185	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr7:14054603-14055731	K562	blood:	n/a	n/a
19	POLR2A	chr7:14051050-14054394	K562	blood:	n/a	n/a
20	TCF12	chr7:14053364-14053990	SK-N-SH	brain:	n/a	chr7:14053399-14053409
21	TCF12	chr7:14056480-14057036	SK-N-SH	brain:	n/a	chr7:14056808-14056816 chr7:14057023-14057032
22	TCF12	chr7:14056397-14057171	SK-N-SH	brain:	n/a	chr7:14056808-14056816 chr7:14057023-14057032
23	TCF12	chr7:14053352-14054043	SK-N-SH	brain:	n/a	chr7:14053399-14053409

No.	Distal block	Cell Line	Cell type
1	chr7:14030718..14032259-chr7:14052661..14054542,2	K562	blood:
2	chr7:14050366..14053486-chr7:14054872..14056927,3	K562	blood:
3	chr7:14034847..14037750-chr7:14053463..14055035,2	K562	blood:

Variant related genes	Relation type
ENSG00000252374	TF binding region
ENSG00000252374	chromatin interactions
ENSG00000006468	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559992031	chr7:14053993-14053994	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs147281756	chr7:14053997-14053998	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184331542	chr7:14054009-14054010	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551745639	chr7:14054017-14054018	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562188926	chr7:14054104-14054105	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531386866	chr7:14054118-14054119	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547988179	chr7:14054157-14054158	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs189210364	chr7:14054190-14054191	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536426150	chr7:14054216-14054217	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547250993	chr7:14054253-14054254	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554054182	chr7:14054270-14054271	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567165360	chr7:14054275-14054276	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs9886363	chr7:14054288-14054289	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549701328	chr7:14054300-14054301	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374843278	chr7:14054354-14054355	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544768054	chr7:14054374-14054375	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575559679	chr7:14054383-14054384	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs538303357	chr7:14054384-14054385	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368637408	chr7:14054388-14054389	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs193104207	chr7:14054416-14054417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375477604	chr7:14054439-14054440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574903497	chr7:14054465-14054466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540021346	chr7:14054470-14054471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368510648	chr7:14054475-14054476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559955871	chr7:14054495-14054496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150755713	chr7:14054517-14054518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371603027	chr7:14054523-14054524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184723169	chr7:14054648-14054649	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs115322118	chr7:14054684-14054685	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs189156641	chr7:14054760-14054761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs548198232	chr7:14054814-14054815	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs200538921	chr7:14054816-14054817	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs561614643	chr7:14054828-14054829	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs527424989	chr7:14054833-14054834	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs114356608	chr7:14054835-14054836	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs113305582	chr7:14054880-14054881	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575266305	chr7:14054922-14054923	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181490987	chr7:14054926-14054927	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544526152	chr7:14054983-14054984	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552921648	chr7:14055057-14055058	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184291024	chr7:14055072-14055073	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs143759530	chr7:14055115-14055116	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375412025	chr7:14055116-14055117	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112220345	chr7:14055124-14055125	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554980911	chr7:14055143-14055144	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529936883	chr7:14055147-14055148	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568451430	chr7:14055165-14055166	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs139138321	chr7:14055169-14055170	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs78975038	chr7:14055202-14055203	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546801565	chr7:14055207-14055208	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14050200-14070800	Weak transcription	K562	blood
2	chr7:14053200-14054400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:14054400-14059800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:14056200-14057000	Enhancers	Osteobl	bone
5	chr7:14056400-14056800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:14056400-14057000	Enhancers	Fetal Heart	heart
7	chr7:14056400-14057400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:14056800-14057000	Enhancers	HSMMtube	muscle

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