Variant report

Variant	esv3478237
Chromosome Location	chr7:12355992-12356460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12354059..12356452-chr7:12416852..12418898,2	K562	blood:
2	chr7:12351255..12355072-chr7:12355211..12359779,5	K562	blood:
3	chr7:12249029..12251264-chr7:12355308..12358122,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106460	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532634318	chr7:12356018-12356019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552299821	chr7:12356036-12356037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373939747	chr7:12356055-12356056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377405866	chr7:12356059-12356060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569186162	chr7:12356112-12356113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs386710412	chr7:12356118-12356119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs55653275	chr7:12356119-12356120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567210054	chr7:12356125-12356126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542989490	chr7:12356152-12356153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114238189	chr7:12356160-12356161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189337948	chr7:12356169-12356170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369381176	chr7:12356196-12356197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546337275	chr7:12356202-12356203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562598761	chr7:12356208-12356209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572894791	chr7:12356230-12356231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572992772	chr7:12356237-12356238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs59453116	chr7:12356249-12356250	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558269460	chr7:12356252-12356253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs57429766	chr7:12356304-12356305	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544937256	chr7:12356325-12356326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374548520	chr7:12356330-12356331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146008031	chr7:12356338-12356339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545244426	chr7:12356339-12356340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73290443	chr7:12356356-12356357	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560696371	chr7:12356358-12356359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532503549	chr7:12356402-12356403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs55638440	chr7:12356421-12356422	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181633804	chr7:12356432-12356433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530968686	chr7:12356433-12356434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Multiple myeloma	17550852	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12338400-12359200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:12339600-12360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:12351000-12367600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:12352200-12360600	Weak transcription	K562	blood
5	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:12354800-12364800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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