Variant report

Variant	esv15410
Chromosome Location	chr7:12122220-12122980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1990600	chr7:12122223-12122224	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7784346	chr7:12122251-12122252	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562861342	chr7:12122267-12122268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4721026	chr7:12122356-12122357	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185547012	chr7:12122358-12122359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199650833	chr7:12122360-12122361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530062494	chr7:12122383-12122384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73676329	chr7:12122385-12122386	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs13241222	chr7:12122400-12122401	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189569898	chr7:12122445-12122446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552217110	chr7:12122454-12122455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10275399	chr7:12122470-12122471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537803096	chr7:12122480-12122481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs137970578	chr7:12122483-12122484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182305825	chr7:12122503-12122504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10275524	chr7:12122555-12122556	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553922614	chr7:12122558-12122559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576992760	chr7:12122621-12122622	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs559652650	chr7:12122639-12122640	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs7788708	chr7:12122657-12122658	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs151115818	chr7:12122658-12122659	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs573799037	chr7:12122675-12122676	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576462008	chr7:12122685-12122686	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs542203139	chr7:12122687-12122688	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs7788863	chr7:12122749-12122750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs79948859	chr7:12122797-12122798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs17589439	chr7:12122826-12122827	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560469749	chr7:12122870-12122871	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144422295	chr7:12122877-12122878	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532307153	chr7:12122890-12122891	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7789227	chr7:12122891-12122892	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531349534	chr7:12122935-12122936	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141059600	chr7:12122938-12122939	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567743396	chr7:12122946-12122947	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7808117	chr7:12122957-12122958	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7808118	chr7:12122960-12122961	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs111791002	chr7:12122967-12122968	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192494723	chr7:12122973-12122974	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12115600-12130400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:12119400-12122600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:12120200-12122400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:12120200-12122800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:12120200-12122800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:12120400-12122400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:12122000-12122800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:12122200-12122600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:12122200-12123400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:12122400-12123200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:12122400-12123200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:12122600-12123200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:12122600-12123200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:12122800-12123000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:12122800-12123200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:12122800-12123400	Enhancers	H9 Cell Line	embryonic stem cell

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