Variant report

Variant	nsv517952
Chromosome Location	chr7:11238027-11246153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:11244458..11249354-chr7:11252765..11256676,5	MCF-7	breast:
2	chr7:11242328..11245146-chr7:11247823..11250208,3	K562	blood:
3	chr7:11230694..11232235-chr7:11241525..11243997,2	MCF-7	breast:
4	chr7:11245322..11247054-chr7:11253506..11255264,2	K562	blood:

Extended variants
information (count: 394 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12534845	chr7:11238027-11238028	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556252960	chr7:11238033-11238034	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576136363	chr7:11238041-11238042	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557781998	chr7:11238064-11238065	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532967775	chr7:11238066-11238067	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542029460	chr7:11238087-11238088	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187888252	chr7:11238097-11238098	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565210792	chr7:11238126-11238127	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200901818	chr7:11238137-11238138	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572314172	chr7:11238142-11238143	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540979678	chr7:11238148-11238149	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13243727	chr7:11238152-11238153	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202106846	chr7:11238153-11238154	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12532499	chr7:11238154-11238155	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532997269	chr7:11238159-11238160	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138487945	chr7:11238160-11238161	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543526030	chr7:11238174-11238175	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4998581	chr7:11238176-11238177	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs375159714	chr7:11238180-11238181	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368486748	chr7:11238184-11238185	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4998580	chr7:11238185-11238186	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200697222	chr7:11238189-11238190	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4510740	chr7:11238192-11238193	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192528696	chr7:11238196-11238197	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147045173	chr7:11238200-11238201	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138145407	chr7:11238204-11238205	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551699965	chr7:11238205-11238206	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571292460	chr7:11238208-11238209	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4413669	chr7:11238212-11238213	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4257914	chr7:11238220-11238221	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4990964	chr7:11238229-11238230	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575019905	chr7:11238230-11238231	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113642036	chr7:11238233-11238234	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375034251	chr7:11238236-11238237	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367995851	chr7:11238240-11238241	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4998579	chr7:11238241-11238242	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182888541	chr7:11238244-11238245	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4998578	chr7:11238248-11238249	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192958465	chr7:11238252-11238253	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4998576	chr7:11238265-11238266	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62438687	chr7:11238269-11238270	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4998575	chr7:11238273-11238274	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62438688	chr7:11238276-11238277	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139456692	chr7:11238277-11238278	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62438689	chr7:11238280-11238281	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62438690	chr7:11238285-11238286	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62438691	chr7:11238289-11238290	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76930724	chr7:11238292-11238293	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78999303	chr7:11238293-11238294	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142250924	chr7:11238297-11238298	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11233600-11243400	Weak transcription	Right Atrium	heart
2	chr7:11233800-11242800	Weak transcription	Fetal Stomach	stomach
3	chr7:11234600-11238400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:11235200-11239200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:11236200-11238400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:11236400-11243000	Weak transcription	Ovary	ovary
7	chr7:11236600-11239000	Genic enhancers	Liver	Liver
8	chr7:11237200-11238600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:11237400-11238800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:11237400-11239000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:11237600-11241800	Weak transcription	Adipose Nuclei	Adipose
12	chr7:11238400-11238600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:11238400-11239400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:11238600-11239400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:11239000-11239200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:11239000-11239200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:11239000-11239200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:11239000-11246000	Strong transcription	Liver	Liver
19	chr7:11239200-11239600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:11239400-11251000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:11239400-11251800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:11239600-11251000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:11240600-11241000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:11241000-11243400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:11241800-11242400	Enhancers	Adipose Nuclei	Adipose
26	chr7:11242400-11245800	Weak transcription	Adipose Nuclei	Adipose
27	chr7:11242800-11243200	Enhancers	Fetal Stomach	stomach
28	chr7:11242800-11243800	Enhancers	HSMMtube	muscle
29	chr7:11243000-11243200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:11243000-11243600	Enhancers	Fetal Muscle Leg	muscle
31	chr7:11243000-11244000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:11243000-11244000	Enhancers	Fetal Lung	lung
33	chr7:11243000-11244800	Enhancers	Ovary	ovary
34	chr7:11243200-11246000	Enhancers	Fetal Kidney	kidney
35	chr7:11243400-11243600	Enhancers	Right Atrium	heart
36	chr7:11243400-11243800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:11243400-11245800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:11243600-11243800	Weak transcription	Right Atrium	heart
39	chr7:11243800-11244000	Enhancers	Brain Germinal Matrix	brain
40	chr7:11244000-11244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr7:11244400-11244600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:11244600-11244800	Enhancers	Brain Germinal Matrix	brain
43	chr7:11244600-11245000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:11244800-11246400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:11244800-11247000	Weak transcription	Ovary	ovary
46	chr7:11245400-11246200	Enhancers	Fetal Brain Female	brain
47	chr7:11245600-11246400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:11245800-11246200	Enhancers	HUVEC	blood vessel
49	chr7:11245800-11246400	Enhancers	Adipose Nuclei	Adipose
50	chr7:11245800-11247200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links