Variant report

Variant	nsv464263
Chromosome Location	chr7:3151177-3169494
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:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

(count:3 , 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-AC091801.1.1-5	chr7:3157609-3157650	XLOC_006338
3	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: 856 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9986825	chr7:3151177-3151178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538846159	chr7:3151183-3151184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9986888	chr7:3151202-3151203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74647514	chr7:3151257-3151258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73033542	chr7:3151276-3151277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563451688	chr7:3151341-3151342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199581431	chr7:3151405-3151406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370659142	chr7:3151414-3151415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546060529	chr7:3151443-3151444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565373508	chr7:3151464-3151465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527815240	chr7:3151489-3151490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115363774	chr7:3151527-3151528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561138808	chr7:3151538-3151539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530388323	chr7:3151573-3151574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563546184	chr7:3151580-3151581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7458243	chr7:3151583-3151584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550208494	chr7:3151643-3151644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570189128	chr7:3151644-3151645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183742879	chr7:3151665-3151666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536916991	chr7:3151743-3151744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77334785	chr7:3151747-3151748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147462450	chr7:3151777-3151778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78892757	chr7:3151791-3151792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554116508	chr7:3151836-3151837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567967882	chr7:3151888-3151889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374328654	chr7:3151906-3151907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113334551	chr7:3151913-3151914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368510471	chr7:3151933-3151934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79421681	chr7:3151935-3151936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572829905	chr7:3151954-3151955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73033543	chr7:3151955-3151956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553238533	chr7:3151973-3151974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78277630	chr7:3152063-3152064	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs541557188	chr7:3152102-3152103	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs561286682	chr7:3152106-3152107	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs11762282	chr7:3152116-3152117	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544053057	chr7:3152161-3152162	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs188507878	chr7:3152173-3152174	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs936902	chr7:3152180-3152181	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs563808253	chr7:3152181-3152182	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs532704148	chr7:3152183-3152184	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs139831404	chr7:3152200-3152201	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs367817532	chr7:3152207-3152208	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs142978722	chr7:3152210-3152211	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs150680722	chr7:3152235-3152236	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs574657288	chr7:3152244-3152245	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs139982608	chr7:3152251-3152252	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs536638817	chr7:3152257-3152258	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs556944245	chr7:3152269-3152270	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs570743204	chr7:3152285-3152286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	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:163 , 50 per page) page: 1 2 3 4

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	chr7:3147800-3151800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:3147800-3152200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:3147800-3152200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:3148000-3151400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:3148000-3151400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:3148000-3152000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:3148200-3151400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:3150400-3152400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:3150400-3153200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:3150600-3151200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:3150600-3152600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:3150600-3153000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:3150800-3153000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:3151000-3151400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:3151000-3153000	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:3151000-3153200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:3151000-3153200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:3151200-3151600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:3151400-3152400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:3151400-3153000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:3151400-3153200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr7:3151400-3153400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr7:3151600-3156800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:3151800-3152200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:3151800-3152800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr7:3152000-3152400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr7:3152000-3152800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:3152000-3152800	Enhancers	Primary T cells from cord blood	blood
33	chr7:3152000-3153000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr7:3152200-3152800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:3152200-3152800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:3152200-3152800	Enhancers	Fetal Thymus	thymus
37	chr7:3152200-3153000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr7:3152400-3152600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:3152400-3152600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
40	chr7:3152400-3152800	Enhancers	Primary B cells from peripheral blood	blood
41	chr7:3152400-3152800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:3152600-3152800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:3152600-3152800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:3152800-3153000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:3152800-3153400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:3152800-3156400	Weak transcription	Fetal Thymus	thymus
47	chr7:3152800-3156800	Weak transcription	Primary T cells from cord blood	blood
48	chr7:3152800-3156800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:3153000-3153400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:3153000-3154400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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