Variant report

Variant	esv3417116
Chromosome Location	chr7:11509277-11511675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553330080	chr7:11509279-11509280	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs73284747	chr7:11509318-11509319	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141222503	chr7:11509321-11509322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184407167	chr7:11509346-11509347	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575221076	chr7:11509356-11509357	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs544308059	chr7:11509364-11509365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561432346	chr7:11509414-11509415	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs56163655	chr7:11509438-11509439	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2285743	chr7:11509458-11509459	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs112156982	chr7:11509459-11509460	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371236468	chr7:11509512-11509513	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs374146133	chr7:11509522-11509523	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188403555	chr7:11509538-11509539	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs371941400	chr7:11509543-11509544	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs2285744	chr7:11509561-11509562	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs367798108	chr7:11509578-11509579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372947041	chr7:11509586-11509587	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537025347	chr7:11509590-11509591	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376696704	chr7:11509606-11509607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202131463	chr7:11509609-11509610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567344175	chr7:11509628-11509629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535925818	chr7:11509640-11509641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552193659	chr7:11509678-11509679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191729323	chr7:11509724-11509725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138768739	chr7:11509727-11509728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116492910	chr7:11509763-11509764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575580455	chr7:11509769-11509770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544585168	chr7:11509779-11509780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561087535	chr7:11509813-11509814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183470254	chr7:11509822-11509823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141823202	chr7:11509839-11509840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116997525	chr7:11509881-11509882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528280268	chr7:11509884-11509885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144590876	chr7:11509966-11509967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10252863	chr7:11510053-11510054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530752024	chr7:11510173-11510174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550860272	chr7:11510203-11510204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148043928	chr7:11510211-11510212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574968798	chr7:11510216-11510217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567124258	chr7:11510259-11510260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188348212	chr7:11510284-11510285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77196292	chr7:11510317-11510318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537401160	chr7:11510341-11510342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538844417	chr7:11510344-11510345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201982095	chr7:11510346-11510347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557526044	chr7:11510511-11510512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558766941	chr7:11510526-11510527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570928406	chr7:11510551-11510552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569444993	chr7:11510567-11510568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141728521	chr7:11510581-11510582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11464800-11513400	Weak transcription	Fetal Kidney	kidney
2	chr7:11480400-11523200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:11490800-11515800	Weak transcription	Fetal Stomach	stomach
4	chr7:11498600-11519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:11499200-11513400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:11499200-11513400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:11500600-11513000	Weak transcription	Placenta	Placenta
8	chr7:11500600-11513400	Weak transcription	Fetal Lung	lung
9	chr7:11501800-11514000	Weak transcription	Pancreas	Pancrea
10	chr7:11508600-11509400	Enhancers	HUVEC	blood vessel
11	chr7:11508800-11509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:11508800-11509600	Enhancers	Fetal Brain Female	brain
13	chr7:11508800-11509600	Enhancers	Fetal Intestine Small	intestine
14	chr7:11508800-11509600	Enhancers	Stomach Mucosa	stomach
15	chr7:11508800-11509800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:11508800-11509800	Enhancers	Brain Germinal Matrix	brain
17	chr7:11509200-11509600	Enhancers	Brain Hippocampus Middle	brain
18	chr7:11509200-11509600	Flanking Active TSS	A549	lung
19	chr7:11509600-11514000	Weak transcription	Gastric	stomach
20	chr7:11509600-11514000	Weak transcription	Stomach Mucosa	stomach
21	chr7:11509800-11513000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:11511400-11515000	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links