Variant report

Variant	esv2761303
Chromosome Location	chr7:13988247-13991464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13991446..13994404-chr7:14016165..14019066,2	K562	blood:
2	chr7:13989943..13991716-chr7:13993587..13996241,2	K562	blood:
3	chr7:13987872..13991716-chr7:13991871..13996241,5	K562	blood:
4	chr7:13987784..13990174-chr7:13991754..13993508,2	K562	blood:
5	chr7:13989697..13991875-chr7:13998508..14000403,2	K562	blood:
6	chr7:13989697..13992273-chr7:13998903..14000492,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6461058	chr7:13988247-13988248	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565689305	chr7:13988254-13988255	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534371303	chr7:13988284-13988285	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180671827	chr7:13988302-13988303	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529605810	chr7:13988317-13988318	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115615565	chr7:13988322-13988323	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545986262	chr7:13988333-13988334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556369297	chr7:13988399-13988400	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185784982	chr7:13988403-13988404	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374301328	chr7:13988422-13988423	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73068195	chr7:13988434-13988435	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542526931	chr7:13988451-13988452	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561907437	chr7:13988512-13988513	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62454585	chr7:13988513-13988514	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs725964	chr7:13988523-13988524	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73679047	chr7:13988568-13988569	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145071769	chr7:13988578-13988579	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189340256	chr7:13988594-13988595	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563485850	chr7:13988601-13988602	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529145086	chr7:13988602-13988603	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549261906	chr7:13988670-13988671	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181713951	chr7:13988671-13988672	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369655546	chr7:13988700-13988701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551010970	chr7:13988722-13988723	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75913007	chr7:13988733-13988734	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553780019	chr7:13988734-13988735	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78210136	chr7:13988735-13988736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35556294	chr7:13988742-13988743	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576599551	chr7:13988790-13988791	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202084966	chr7:13988791-13988792	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535730075	chr7:13988801-13988802	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186015099	chr7:13988822-13988823	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74730041	chr7:13988886-13988887	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541414328	chr7:13988910-13988911	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150953862	chr7:13988916-13988917	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578116977	chr7:13988942-13988943	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564923755	chr7:13988969-13988970	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543952948	chr7:13989002-13989003	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563290888	chr7:13989004-13989005	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs139529866	chr7:13989071-13989072	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563058263	chr7:13989101-13989102	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs75328343	chr7:13989142-13989143	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs188864978	chr7:13989175-13989176	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs528406558	chr7:13989201-13989202	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181289667	chr7:13989240-13989241	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570926921	chr7:13989281-13989282	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546252545	chr7:13989318-13989319	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs536721137	chr7:13989321-13989322	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs550266093	chr7:13989327-13989328	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186192386	chr7:13989329-13989330	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	21298110	CNVD
Glioblastoma multiforme	22122801	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Prostate cancer	17079440	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13960400-13989000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:13971400-13991600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:13971600-13989800	Weak transcription	Liver	Liver
4	chr7:13973400-13989000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:13973400-13990000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:13975600-14003600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:13975600-14003600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:13975600-14013800	Weak transcription	Left Ventricle	heart
9	chr7:13978800-14004600	Weak transcription	Fetal Lung	lung
10	chr7:13979200-13988800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:13979200-13998000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:13979600-13989000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:13984200-13989800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:13984800-13988800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:13985000-13989800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:13985800-14004600	Weak transcription	NHLF	lung
17	chr7:13986000-13994000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:13986200-13997000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:13987200-13989400	Enhancers	Dnd41	blood
20	chr7:13987400-13988600	Enhancers	Fetal Heart	heart
21	chr7:13987400-13988600	Enhancers	HSMM	muscle
22	chr7:13987400-13989000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:13987800-13988600	Enhancers	HSMMtube	muscle
24	chr7:13988000-13988400	Enhancers	Fetal Muscle Leg	muscle
25	chr7:13988000-13989000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:13988000-13989000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:13988000-14012800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:13988200-13988400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:13988200-13990000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:13988200-13990400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:13988200-14010400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:13988400-13988800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:13988600-13989800	Weak transcription	Fetal Heart	heart
34	chr7:13988800-13989800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:13988800-13990000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:13988800-13990000	Enhancers	Fetal Intestine Large	intestine
37	chr7:13988800-13990000	Enhancers	Fetal Intestine Small	intestine
38	chr7:13988800-13990200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:13989000-13989400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:13989000-13989600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:13989000-13989600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr7:13989000-13990000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:13989000-13990200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:13989000-13990800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:13989000-13990800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:13989000-14019400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:13989200-13990000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr7:13989400-14003600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:13989600-13989800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr7:13989600-13990000	Enhancers	Pancreatic Islets	Pancreatic Islet

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