Variant report

Variant	nsv538671
Chromosome Location	chr7:3411358-3449606
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3425641..3430182-chr7:3430225..3435357,4	MCF-7	breast:
2	chr7:3419417..3422397-chr7:3422583..3424637,2	K562	blood:
3	chr7:3425641..3430182-chr7:3430225..3435357,4	MCF-7	breast:
4	chr7:3421160..3422732-chr7:3429225..3430935,2	MCF-7	breast:
5	chr7:3341947..3342585-chr7:3439297..3440029,2	MCF-7	breast:
6	chr7:3438230..3440428-chr7:3448766..3450871,2	MCF-7	breast:
7	chr7:3435622..3438009-chr7:3442617..3444470,2	MCF-7	breast:
8	chr7:3436200..3439462-chr7:3442138..3445077,3	K562	blood:
9	chr7:3419417..3422397-chr7:3422583..3424637,2	K562	blood:
10	chr7:3442245..3445067-chr7:3448256..3450121,2	MCF-7	breast:
11	chr7:3441889..3444490-chr7:3452543..3454242,2	MCF-7	breast:
12	chr7:3427962..3429690-chr7:3438000..3440152,2	K562	blood:
13	chr7:3442245..3445067-chr7:3448256..3450121,2	MCF-7	breast:
14	chr7:3435622..3438009-chr7:3442617..3444470,2	MCF-7	breast:
15	chr7:3398782..3400855-chr7:3415548..3417886,2	MCF-7	breast:
16	chr7:3340385..3341337-chr7:3439295..3440058,3	MCF-7	breast:
17	chr7:3444047..3446365-chr7:3452049..3455174,3	MCF-7	breast:
18	chr7:3348530..3349530-chr7:3439336..3440173,5	MCF-7	breast:
19	chr7:3421160..3422732-chr7:3429225..3430935,2	MCF-7	breast:
20	chr7:3444122..3444632-chr7:3471439..3472016,2	MCF-7	breast:
21	chr7:3425023..3426589-chr7:3427708..3429646,2	MCF-7	breast:
22	chr7:3438230..3440428-chr7:3448766..3450871,2	MCF-7	breast:
23	chr7:3436200..3438648-chr7:3443337..3445077,2	K562	blood:
24	chr7:3340063..3340822-chr7:3439252..3440083,5	MCF-7	breast:
25	chr7:3424678..3427459-chr7:3437708..3440654,2	MCF-7	breast:
26	chr7:3443032..3445719-chr7:3938528..3940389,2	MCF-7	breast:
27	chr7:3439202..3440208-chr7:3521793..3522518,3	MCF-7	breast:
28	chr7:3425023..3426589-chr7:3427708..3429646,2	MCF-7	breast:
29	chr7:3427962..3429690-chr7:3438000..3440152,2	K562	blood:
30	chr7:3424678..3427459-chr7:3437708..3440654,2	MCF-7	breast:
31	chr7:3194262..3194922-chr7:3439333..3439841,2	MCF-7	breast:
32	chr7:3240198..3242825-chr7:3445733..3447901,2	K562	blood:
33	chr7:3348413..3349355-chr7:3439267..3440144,2	MCF-7	breast:
34	chr7:3436200..3438648-chr7:3443337..3445077,2	K562	blood:
35	chr7:3436200..3439462-chr7:3442138..3445077,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146555	chromatin interactions
ENSG00000236708	chromatin interactions

Extended variants
information (count: 1960 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1960 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555712669	chr7:3411378-3411379	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs533973302	chr7:3411432-3411433	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191150132	chr7:3411451-3411452	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559801366	chr7:3411481-3411482	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs73294223	chr7:3411487-3411488	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376553187	chr7:3411488-3411489	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369760116	chr7:3411496-3411497	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542542061	chr7:3411526-3411527	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs17812938	chr7:3411534-3411535	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531225710	chr7:3411558-3411559	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs563689357	chr7:3411566-3411567	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183814159	chr7:3411588-3411589	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139328572	chr7:3411589-3411590	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532910409	chr7:3411610-3411611	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs546255632	chr7:3411617-3411618	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187630058	chr7:3411641-3411642	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs535038462	chr7:3411674-3411675	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190476937	chr7:3411705-3411706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs10454314	chr7:3411725-3411726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150009371	chr7:3411748-3411749	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557688642	chr7:3411760-3411761	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs577732056	chr7:3411770-3411771	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546327494	chr7:3411789-3411790	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145211385	chr7:3411819-3411820	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs36101578	chr7:3411827-3411828	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs58168983	chr7:3411830-3411831	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs142335348	chr7:3411832-3411833	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182888946	chr7:3411840-3411841	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186855884	chr7:3411854-3411855	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs531135498	chr7:3411883-3411884	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs544864347	chr7:3411931-3411932	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs564542456	chr7:3411947-3411948	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191742925	chr7:3411948-3411949	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546294449	chr7:3411965-3411966	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs563652172	chr7:3411985-3411986	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs146909435	chr7:3412022-3412023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11981092	chr7:3412100-3412101	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548730254	chr7:3412110-3412111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369024329	chr7:3412117-3412118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544539338	chr7:3412123-3412124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568814128	chr7:3412144-3412145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76390065	chr7:3412194-3412195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147943585	chr7:3412228-3412229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111946402	chr7:3412265-3412266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534025651	chr7:3412281-3412282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372305307	chr7:3412330-3412331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553997514	chr7:3412348-3412349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556734098	chr7:3412378-3412379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573405463	chr7:3412386-3412387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77910097	chr7:3412406-3412407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3407200-3411800	Enhancers	Fetal Brain Male	brain
2	chr7:3408800-3426200	Weak transcription	Aorta	Aorta
3	chr7:3409400-3412200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:3409600-3412800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr7:3410200-3412400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:3410400-3412200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:3410400-3412400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:3410600-3411600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:3410600-3413000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:3410600-3420400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:3410800-3412200	Weak transcription	Spleen	Spleen
12	chr7:3410800-3412400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:3410800-3415200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:3410800-3420800	Weak transcription	Pancreas	Pancrea
15	chr7:3411000-3411600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:3411200-3411400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:3411200-3411600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:3411200-3411600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr7:3411200-3411800	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:3411200-3412000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:3411200-3412000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:3411200-3412400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr7:3411200-3412400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:3411400-3411800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:3411400-3411800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:3411400-3412000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:3411600-3411800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:3411600-3411800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:3411600-3411800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:3411600-3412000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:3411600-3412000	Enhancers	HepG2	liver
32	chr7:3411600-3412400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:3411800-3412200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr7:3411800-3412200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:3411800-3413000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:3411800-3413000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:3411800-3420400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:3411800-3420800	Weak transcription	Fetal Brain Male	brain
39	chr7:3412000-3416000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:3412000-3416000	Weak transcription	HepG2	liver
41	chr7:3412200-3412400	Enhancers	Spleen	Spleen
42	chr7:3412200-3418800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:3412200-3420200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr7:3412400-3413800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:3412400-3416800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:3412400-3416800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:3412400-3420000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:3412400-3420800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:3412400-3420800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:3412800-3416600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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