Variant report

Variant	nsv499698
Chromosome Location	chr7:137991842-138004097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137926916..137928434-chr7:137998152..138000341,2	K562	blood:
2	chr7:137995053..137999099-chr7:138144129..138146392,3	K562	blood:

Variant related genes	Relation type
ENSG00000122779	chromatin interactions

Extended variants
information (count: 547 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71533788	chr7:137991842-137991843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566458267	chr7:137991853-137991854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149721626	chr7:137991940-137991941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11536612	chr7:137991986-137991987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555779174	chr7:137991990-137991991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528571784	chr7:137991993-137991994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77607328	chr7:137992008-137992009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201852276	chr7:137992009-137992010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80205271	chr7:137992010-137992011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113291147	chr7:137992014-137992015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565234836	chr7:137992016-137992017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs66468166	chr7:137992018-137992019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9770010	chr7:137992019-137992020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202240526	chr7:137992022-137992023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561033955	chr7:137992050-137992051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145540957	chr7:137992082-137992083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148854589	chr7:137992086-137992087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184774965	chr7:137992089-137992090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532008057	chr7:137992158-137992159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78489401	chr7:137992172-137992173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565623658	chr7:137992189-137992190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527914136	chr7:137992232-137992233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547696699	chr7:137992289-137992290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567487393	chr7:137992300-137992301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536560474	chr7:137992323-137992324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190441574	chr7:137992349-137992350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181747173	chr7:137992358-137992359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144033869	chr7:137992402-137992403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146431600	chr7:137992404-137992405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185237651	chr7:137992452-137992453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189770610	chr7:137992472-137992473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181172896	chr7:137992518-137992519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541478733	chr7:137992533-137992534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185460251	chr7:137992555-137992556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574636551	chr7:137992557-137992558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543785322	chr7:137992592-137992593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563564911	chr7:137992595-137992596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189919153	chr7:137992608-137992609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113929034	chr7:137992612-137992613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115333488	chr7:137992627-137992628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140798615	chr7:137992634-137992635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559274540	chr7:137992636-137992637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180769937	chr7:137992675-137992676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370588478	chr7:137992703-137992704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547842398	chr7:137992717-137992718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368260300	chr7:137992753-137992754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372511072	chr7:137992759-137992760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373894704	chr7:137992761-137992762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368055621	chr7:137992762-137992763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371273736	chr7:137992763-137992764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137988000-137992800	Enhancers	Placenta	Placenta
2	chr7:137988400-137992600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:137988600-137999200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:137991400-137992400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:137992400-137992600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:137992400-137993400	Enhancers	HepG2	liver
7	chr7:137992600-137993000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:137992800-137998600	Weak transcription	Placenta	Placenta
9	chr7:137993000-137993200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:137993200-137993600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:137993400-137994800	Weak transcription	HepG2	liver
12	chr7:137994800-137995400	Enhancers	HepG2	liver
13	chr7:137995200-138012000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:137995400-137998600	Weak transcription	HepG2	liver
15	chr7:137998000-138000200	Enhancers	K562	blood
16	chr7:137998000-138000400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:137998200-137999800	Enhancers	Stomach Mucosa	stomach
18	chr7:137998600-137999400	Enhancers	Fetal Intestine Small	intestine
19	chr7:137998600-137999400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr7:137998600-137999600	Enhancers	Placenta	Placenta
21	chr7:137998600-138001600	Enhancers	HepG2	liver
22	chr7:137998600-138002400	Enhancers	Fetal Intestine Large	intestine
23	chr7:137998800-137999000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr7:137998800-137999200	Enhancers	Liver	Liver
25	chr7:137998800-137999200	Enhancers	Small Intestine	intestine
26	chr7:137998800-137999400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr7:137998800-137999400	Enhancers	Spleen	Spleen
28	chr7:137998800-137999400	Enhancers	Hela-S3	cervix
29	chr7:137999000-137999200	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:137999200-137999400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr7:137999200-138000400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:137999200-138001000	Weak transcription	Liver	Liver
33	chr7:137999400-137999600	Genic enhancers	Fetal Intestine Small	intestine
34	chr7:137999400-138000400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:137999400-138000400	Enhancers	Duodenum Mucosa	Duodenum
36	chr7:137999400-138000600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:137999600-138000200	Enhancers	Fetal Intestine Small	intestine
38	chr7:137999800-138001000	Weak transcription	Stomach Mucosa	stomach
39	chr7:138000200-138000400	Genic enhancers	Fetal Intestine Small	intestine
40	chr7:138000400-138001600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:138000400-138002200	Enhancers	Fetal Intestine Small	intestine
42	chr7:138001000-138001200	Flanking Active TSS	Liver	Liver
43	chr7:138001000-138001200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr7:138001000-138001200	Enhancers	Small Intestine	intestine
45	chr7:138001000-138001200	Enhancers	Stomach Mucosa	stomach
46	chr7:138001200-138001400	Enhancers	Liver	Liver
47	chr7:138001400-138001600	Flanking Active TSS	Liver	Liver
48	chr7:138001400-138005200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:138001600-138001800	Enhancers	Duodenum Mucosa	Duodenum
50	chr7:138001600-138002200	Flanking Active TSS	HepG2	liver

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