Variant report

Variant	nsv830968
Chromosome Location	chr7:39127531-39283543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:39181307..39183603-chr7:39185314..39187095,2	MCF-7	breast:
2	chr7:39138311..39140874-chr7:39175563..39178454,2	K562	blood:
3	chr7:39195274..39197700-chr7:39206282..39208251,3	K562	blood:
4	chr7:39138311..39140874-chr7:39175563..39178454,2	K562	blood:
5	chr7:39229819..39231430-chr7:39234869..39237019,2	K562	blood:
6	chr7:39247260..39250280-chr7:39251957..39254313,3	K562	blood:
7	chr7:39127870..39129771-chr7:39130949..39133880,2	K562	blood:
8	chr7:39238752..39240395-chr7:39241179..39245120,3	K562	blood:
9	chr7:39118345..39121127-chr7:39144193..39146924,2	K562	blood:
10	chr7:39191469..39193442-chr7:39196110..39198005,2	K562	blood:
11	chr7:39261620..39263576-chr7:39264773..39267586,2	K562	blood:
12	chr7:39181307..39183603-chr7:39185314..39187095,2	MCF-7	breast:
13	chr7:39248504..39250280-chr7:39251957..39253769,2	K562	blood:
14	chr7:39196101..39198199-chr7:39208525..39210124,2	K562	blood:
15	chr7:39219732..39222456-chr7:39223590..39226155,2	K562	blood:
16	chr7:39219732..39222456-chr7:39223590..39226155,2	K562	blood:
17	chr7:39229819..39231430-chr7:39234869..39237019,2	K562	blood:
18	chr7:39273869..39276775-chr7:39278580..39280139,2	K562	blood:
19	chr7:39261620..39263576-chr7:39264773..39267586,2	K562	blood:
20	chr7:39198600..39200599-chr7:39202951..39205373,2	K562	blood:
21	chr7:39247260..39250280-chr7:39251957..39254313,3	K562	blood:
22	chr7:39127870..39129771-chr7:39130949..39133880,2	K562	blood:
23	chr7:39137033..39139788-chr7:39144579..39146603,2	K562	blood:
24	chr14:74318927..74321495-chr7:39257326..39259640,2	MCF-7	breast:
25	chr7:39248504..39250280-chr7:39251957..39253769,2	K562	blood:
26	chr7:39155263..39157100-chr7:39158946..39161624,2	K562	blood:
27	chr7:39229548..39232422-chr7:39234869..39240072,4	K562	blood:
28	chr7:39238752..39240395-chr7:39241179..39245120,3	K562	blood:
29	chr7:39195274..39197700-chr7:39206282..39208251,3	K562	blood:
30	chr7:39273869..39276775-chr7:39278580..39280139,2	K562	blood:
31	chr7:39191469..39193442-chr7:39196110..39198005,2	K562	blood:
32	chr7:39229548..39232422-chr7:39234869..39240072,4	K562	blood:
33	chr7:39155263..39157100-chr7:39158946..39161624,2	K562	blood:
34	chr7:39196101..39198199-chr7:39208525..39210124,2	K562	blood:
35	chr7:39137033..39139788-chr7:39144579..39146603,2	K562	blood:
36	chr7:39198600..39200599-chr7:39202951..39205373,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YAE1D1-3	chr7:39160433-39160502	NONHSAT120198
2	lnc-YAE1D1-3	chr7:39171978-39172246	NONHSAT120198

No data

Extended variants
information (count: 3650 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3650 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78050863	chr7:39127535-39127536	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs558986280	chr7:39127537-39127538	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs35497146	chr7:39127553-39127554	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34871420	chr7:39127557-39127558	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575632061	chr7:39127580-39127581	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35304721	chr7:39127587-39127588	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35510246	chr7:39127636-39127637	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs34732550	chr7:39127640-39127641	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371197353	chr7:39127648-39127649	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs34480884	chr7:39127705-39127706	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35010642	chr7:39127714-39127715	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76104701	chr7:39127732-39127733	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs34105837	chr7:39127742-39127743	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs73373263	chr7:39127780-39127781	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376137673	chr7:39127788-39127789	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548838714	chr7:39127851-39127852	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559919189	chr7:39127867-39127868	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532271701	chr7:39127880-39127881	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552093988	chr7:39127889-39127890	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73373264	chr7:39127946-39127947	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373993978	chr7:39127965-39127966	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531364442	chr7:39127973-39127974	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs548126616	chr7:39127985-39127986	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs547896451	chr7:39127994-39127995	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs190905471	chr7:39128069-39128070	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149362076	chr7:39128097-39128098	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553555041	chr7:39128128-39128129	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs73373265	chr7:39128145-39128146	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs367913451	chr7:39128171-39128172	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs73373267	chr7:39128203-39128204	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559322656	chr7:39128207-39128208	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575873231	chr7:39128225-39128226	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs143818565	chr7:39128245-39128246	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs554677486	chr7:39128253-39128254	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs372035066	chr7:39128269-39128270	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs374236750	chr7:39128336-39128337	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs183329989	chr7:39128351-39128352	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559906534	chr7:39128385-39128386	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs532208538	chr7:39128386-39128387	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs536975756	chr7:39128427-39128428	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs4573153	chr7:39128497-39128498	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562772978	chr7:39128624-39128625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531521976	chr7:39128643-39128644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548125851	chr7:39128648-39128649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576932718	chr7:39128654-39128655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567963698	chr7:39128676-39128677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527374903	chr7:39128720-39128721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547551508	chr7:39128819-39128820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113149812	chr7:39128843-39128844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534554594	chr7:39128847-39128848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39125400-39130200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:39125600-39128400	Weak transcription	Aorta	Aorta
3	chr7:39125600-39128600	Active TSS	Fetal Brain Female	brain
4	chr7:39125600-39131600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:39125600-39131800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:39126000-39128600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:39126000-39129200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:39126400-39128400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:39126400-39128400	Weak transcription	Right Atrium	heart
10	chr7:39126600-39131000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:39127000-39128200	Weak transcription	Fetal Brain Male	brain
12	chr7:39127000-39129200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:39127200-39129000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:39127400-39127600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:39127600-39128000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:39128000-39128800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:39128200-39128400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:39128200-39128600	Enhancers	Fetal Brain Male	brain
19	chr7:39128400-39129000	Enhancers	Aorta	Aorta
20	chr7:39128400-39129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:39128400-39129200	Enhancers	Right Atrium	heart
22	chr7:39128600-39129000	Enhancers	Fetal Brain Female	brain
23	chr7:39128600-39129200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:39128600-39131200	Weak transcription	Fetal Brain Male	brain
25	chr7:39129000-39129200	Weak transcription	Fetal Brain Female	brain
26	chr7:39129200-39129400	Active TSS	Fetal Brain Female	brain
27	chr7:39129200-39129800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:39129200-39135400	Weak transcription	Right Atrium	heart
29	chr7:39129800-39130000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:39131000-39132000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:39131200-39131400	Enhancers	Fetal Brain Male	brain
32	chr7:39131600-39131800	Enhancers	Fetal Brain Female	brain
33	chr7:39132000-39132400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:39135400-39135800	Active TSS	Right Atrium	heart
35	chr7:39152200-39152400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:39152200-39152800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:39152600-39153600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:39152800-39153200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:39153000-39153200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:39153200-39153600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:39153200-39154000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:39153200-39154000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:39153200-39165800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:39153400-39153800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr7:39153400-39154000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:39153600-39154000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:39164200-39164400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:39164200-39166200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:39164600-39165800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:39165400-39166000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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