Variant report

Variant	esv1792986
Chromosome Location	chr7:71807474-71809414
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	CTCF	chr7:71809065-71809124	LNCaP	prostate:	n/a	n/a
2	POLR2A	chr7:71809182-71809325	MCF10A-Er-Src	breast:	n/a	n/a
3	RAD21	chr7:71808963-71809303	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:71800589..71802149-chr7:71805434..71807505,2	K562	blood:
2	chr7:71806092..71808807-chr7:71850228..71852499,2	K562	blood:
3	chr7:71804343..71806702-chr7:71808239..71810092,2	K562	blood:

Variant related genes	Relation type
CALN1	TF binding region
ENSG00000183166	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12539988	chr7:71807474-71807475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577404868	chr7:71807507-71807508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34171746	chr7:71807522-71807523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539382120	chr7:71807545-71807546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544736517	chr7:71807549-71807550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557365014	chr7:71807553-71807554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540083043	chr7:71807558-71807559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183172020	chr7:71807579-71807580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377609805	chr7:71807680-71807681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573177854	chr7:71807707-71807708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75859468	chr7:71807742-71807743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188049379	chr7:71807745-71807746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150661301	chr7:71807755-71807756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372469345	chr7:71807758-71807759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562967246	chr7:71807771-71807772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191568970	chr7:71807785-71807786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573889058	chr7:71807804-71807805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368052911	chr7:71807807-71807808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560520593	chr7:71807824-71807825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369837707	chr7:71807840-71807841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540114033	chr7:71807846-71807847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1914379	chr7:71807865-71807866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374601761	chr7:71807894-71807895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546872722	chr7:71807912-71807913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140954461	chr7:71807953-71807954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535608227	chr7:71807954-71807955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144890075	chr7:71807956-71807957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568917688	chr7:71807964-71807965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10267518	chr7:71808000-71808001	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557328067	chr7:71808028-71808029	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs36104871	chr7:71808047-71808048	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551080780	chr7:71808086-71808087	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533546523	chr7:71808099-71808100	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182491429	chr7:71808113-71808114	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574268823	chr7:71808149-71808150	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112053609	chr7:71808158-71808159	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575930883	chr7:71808160-71808161	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139403306	chr7:71808170-71808171	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562970563	chr7:71808171-71808172	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186823805	chr7:71808188-71808189	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192457038	chr7:71808206-71808207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558227566	chr7:71808218-71808219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543208451	chr7:71808251-71808252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561601591	chr7:71808292-71808293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560580416	chr7:71808300-71808301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542152366	chr7:71808326-71808327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149880020	chr7:71808342-71808343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376957671	chr7:71808360-71808361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374700525	chr7:71808361-71808362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549418254	chr7:71808377-71808378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Williams Syndrome	16773131	CNVD
Breast cancer	16417655	CNVD
Rheumatoid arthritis	21728841	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Williams Syndrome	16617304	CNVD
Williams Syndrome	20206275	CNVD
Williams Syndrome	16199537	CNVD
Williams Syndrome	18923514	CNVD
Williams Syndrome	20970697	CNVD
Williams-beuren syndrome	20926892	CNVD
Williams-beuren syndrome	21808859	CNVD
periventricular nodular heterotopia	20648244	CNVD
Williams Syndrome	20425783	CNVD
Williams-beuren syndrome	22226172	CNVD
Williams-beuren syndrome	18923513	CNVD
Williams-beuren syndrome	17565757	CNVD
Williams-beuren syndrome	18787571	CNVD
Williams Syndrome	22241247	CNVD
Autism	21686962	CNVD
Autism	20970697	CNVD
Epilepsy	22118685	CNVD
Epilepsy	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21686962	CNVD
Schizophrenia	22118685	CNVD
Williams-beuren syndrome	18337728	CNVD
language delay	21686962	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
Mental retardation	16773131	CNVD
Colorectal cancer	19455253	CNVD
Williams-beuren syndrome	16971481	CNVD
Idiopathic infantile hypercalcaemia	20466674	CNVD
Williams Syndrome	18308711	CNVD
Williams Syndrome	19255058	CNVD
Williams Syndrome	18924169	CNVD
Williams Syndrome	21939500	CNVD
Williams Syndrome	20425784	CNVD
Williams Syndrome	22241097	CNVD
Williams Syndrome	19176822	CNVD
Williams Syndrome	17505701	CNVD
Supravalvular aortic stenosis	19844261	CNVD
Williams Syndrome	16760918	CNVD
Williams-beuren syndrome	18452001	CNVD
Williams-beuren syndrome	19880526	CNVD
Autism	17666889	CNVD
speech delay	17666889	CNVD
Metanephric adenoma	20802469	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71803000-71812800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:71803600-71808200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:71807000-71807600	Enhancers	Thymus	Thymus
4	chr7:71807200-71810800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:71807400-71807800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:71808000-71808200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr7:71808000-71810400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:71808200-71808800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:71808200-71809000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:71808200-71809000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:71808400-71809000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:71808600-71809200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:71808600-71809400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:71808600-71809400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:71808600-71809600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:71808600-71809600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:71808600-71809800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:71808800-71809000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:71808800-71809000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:71809000-71813400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:71809200-71813800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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