Variant report

Variant	nsv605878
Chromosome Location	chr7:3149419-3183657
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:11)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3153512..3155575-chr7:3157437..3160421,2	K562	blood:
2	chr7:3149067..3151848-chr7:3153141..3155558,2	K562	blood:
3	chr11:108535309..108536048-chr7:3168253..3168776,2	HCT-116	colon:
4	chr7:3149067..3151848-chr7:3153141..3155558,2	K562	blood:
5	chr7:3148059..3150534-chr7:3151006..3152602,2	K562	blood:
6	chr7:3154011..3155575-chr7:3158921..3161053,2	K562	blood:
7	chr7:3172781..3176010-chr7:3179517..3182340,3	K562	blood:
8	chr7:3172781..3176010-chr7:3179517..3182340,3	K562	blood:
9	chr7:3154011..3155575-chr7:3158921..3161053,2	K562	blood:
10	chr7:3153512..3155575-chr7:3157437..3160421,2	K562	blood:
11	chr7:3148059..3150534-chr7:3151006..3152602,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC091801.1.1-8	chr7:3164297-3164414	ucscGeneNc_uc003smw_1
2	lnc-AC091801.1.1-1	chr7:3179828-3179930	XLOC_006339
3	lnc-AC091801.1.1-8	chr7:3180756-3180813	ucscGeneNc_uc003smw_1
4	lnc-AC091801.1.1-8	chr7:3172190-3172290	ucscGeneNc_uc003smw_1
5	lnc-AC091801.1.1-5	chr7:3157609-3157650	XLOC_006338
6	lnc-AC091801.1.1-8	chr7:3153155-3153431	ucscGeneNc_uc003smw_1

No data

Variant related genes	Relation type
ENSG00000178105	chromatin interactions

Extended variants
information (count: 1833 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1833 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1073076	chr7:3149419-3149420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540871568	chr7:3149429-3149430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532277148	chr7:3149443-3149444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560286649	chr7:3149456-3149457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529028841	chr7:3149475-3149476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548984556	chr7:3149521-3149522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562520781	chr7:3149530-3149531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531478594	chr7:3149541-3149542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs717535	chr7:3149543-3149544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188780291	chr7:3149544-3149545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376883014	chr7:3149550-3149551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533727926	chr7:3149557-3149558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145359694	chr7:3149563-3149564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566603713	chr7:3149579-3149580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149179919	chr7:3149583-3149584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77352241	chr7:3149599-3149600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373941622	chr7:3149600-3149601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569239901	chr7:3149611-3149612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151181491	chr7:3149623-3149624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140282601	chr7:3149658-3149659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181931108	chr7:3149680-3149681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540808326	chr7:3149682-3149683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554442544	chr7:3149703-3149704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372036310	chr7:3149706-3149707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530310006	chr7:3149745-3149746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200406343	chr7:3149786-3149787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145280400	chr7:3149796-3149797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186235295	chr7:3149816-3149817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531346790	chr7:3149826-3149827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534918559	chr7:3149875-3149876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372185737	chr7:3149881-3149882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73033536	chr7:3149883-3149884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs137872886	chr7:3149895-3149896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141137024	chr7:3149899-3149900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61693702	chr7:3149903-3149904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567136891	chr7:3149938-3149939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79670429	chr7:3150001-3150002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549468515	chr7:3150022-3150023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569295638	chr7:3150027-3150028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538237716	chr7:3150030-3150031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541429741	chr7:3150040-3150041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571955305	chr7:3150047-3150048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191477731	chr7:3150104-3150105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375875005	chr7:3150105-3150106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554379315	chr7:3150137-3150138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374962066	chr7:3150162-3150163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369138296	chr7:3150180-3150181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542237609	chr7:3150233-3150234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373390059	chr7:3150234-3150235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11763949	chr7:3150279-3150280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3142000-3156200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:3144200-3152200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:3146600-3152000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:3146800-3152200	Weak transcription	Fetal Thymus	thymus
5	chr7:3147800-3150600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:3147800-3151800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:3147800-3152200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:3147800-3152200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:3148000-3150400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:3148000-3150400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:3148000-3151400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:3148000-3151400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:3148000-3152000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:3148200-3150600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:3148200-3150800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:3148200-3151400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:3148400-3149600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:3148600-3150400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:3150400-3150600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:3150400-3151000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr7:3150400-3152400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:3150400-3153200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:3150600-3151200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:3150600-3152600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:3150600-3153000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:3150800-3153000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:3151000-3151400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:3151000-3153000	Enhancers	Primary hematopoietic stem cells	blood
29	chr7:3151000-3153200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr7:3151000-3153200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:3151200-3151600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr7:3151400-3152400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:3151400-3153000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr7:3151400-3153200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr7:3151400-3153400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr7:3151600-3156800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr7:3151800-3152200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:3151800-3152800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr7:3152000-3152400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr7:3152000-3152800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:3152000-3152800	Enhancers	Primary T cells from cord blood	blood
42	chr7:3152000-3153000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:3152200-3152800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:3152200-3152800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:3152200-3152800	Enhancers	Fetal Thymus	thymus
46	chr7:3152200-3153000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr7:3152400-3152600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:3152400-3152600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
49	chr7:3152400-3152800	Enhancers	Primary B cells from peripheral blood	blood
50	chr7:3152400-3152800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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