Variant report

Variant	esv3430609
Chromosome Location	chr7:12485527-12487575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12480338..12484247-chr7:12487058..12490542,4	K562	blood:
2	chr7:12442216..12444802-chr7:12483847..12486014,2	K562	blood:
3	chr7:12485193..12487796-chr7:12515501..12517755,2	K562	blood:

Variant related genes	Relation type
ENSG00000146530	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575579073	chr7:12485535-12485536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs7807438	chr7:12485554-12485555	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138551244	chr7:12485556-12485557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149274277	chr7:12485564-12485565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577457409	chr7:12485592-12485593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542851556	chr7:12485600-12485601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182809929	chr7:12485603-12485604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528239240	chr7:12485682-12485683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187907547	chr7:12485705-12485706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372910161	chr7:12485722-12485723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144471627	chr7:12485737-12485738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530546635	chr7:12485793-12485794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73292292	chr7:12485800-12485801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567623602	chr7:12485840-12485841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530291497	chr7:12485872-12485873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546831373	chr7:12485902-12485903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192768367	chr7:12485914-12485915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538790801	chr7:12485919-12485920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184183511	chr7:12485929-12485930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375802943	chr7:12485941-12485942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs13229207	chr7:12485992-12485993	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538239949	chr7:12486003-12486004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554961053	chr7:12486021-12486022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574022532	chr7:12486026-12486027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542937453	chr7:12486097-12486098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189113887	chr7:12486105-12486106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs137932733	chr7:12486107-12486108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544844879	chr7:12486231-12486232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201242474	chr7:12486235-12486236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201759349	chr7:12486241-12486242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs66717582	chr7:12486242-12486243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71686724	chr7:12486271-12486272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200369215	chr7:12486321-12486322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538166047	chr7:12486378-12486379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12699373	chr7:12486399-12486400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs530478573	chr7:12486401-12486402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs66829119	chr7:12486472-12486473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71027497	chr7:12486479-12486480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544205817	chr7:12486482-12486483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558604711	chr7:12486483-12486484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542732361	chr7:12486491-12486492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143386829	chr7:12486498-12486499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192332715	chr7:12486499-12486500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs36194184	chr7:12486549-12486550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59486274	chr7:12486550-12486551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397743142	chr7:12486552-12486553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11984169	chr7:12486595-12486596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs199993188	chr7:12486601-12486602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566788993	chr7:12486644-12486645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10281615	chr7:12486659-12486660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12477000-12490000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:12484600-12485600	Weak transcription	Fetal Heart	heart
3	chr7:12485600-12485800	Enhancers	Fetal Heart	heart

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