Variant report

Variant	nsv887354
Chromosome Location	chr7:4305834-4402672
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
2	chr7:4311748..4314192-chr7:4314238..4316719,2	MCF-7	breast:
3	chr7:4309758..4311351-chr7:4312992..4314606,2	K562	blood:
4	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
5	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:
6	chr7:4311748..4314192-chr7:4314238..4316719,2	MCF-7	breast:
7	chr7:4309076..4311036-chr7:4311322..4313505,2	MCF-7	breast:
8	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
9	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
10	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
11	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
12	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
13	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
14	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
15	chr7:4309076..4311036-chr7:4311322..4313505,2	MCF-7	breast:
16	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
17	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
18	chr7:4309758..4311351-chr7:4312992..4314606,2	K562	blood:
19	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
20	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
21	chr7:4171607..4173163-chr7:4322084..4324253,2	K562	blood:
22	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
23	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:

No data

Extended variants
information (count: 1851 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1851 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1044701	chr7:4305834-4305835	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150010824	chr7:4305855-4305856	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533698938	chr7:4305924-4305925	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372707911	chr7:4305927-4305928	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370660022	chr7:4305942-4305943	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540437158	chr7:4306053-4306054	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560322167	chr7:4306059-4306060	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184047334	chr7:4306063-4306064	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377289216	chr7:4306072-4306073	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549112035	chr7:4306088-4306089	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568896685	chr7:4306089-4306090	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564011529	chr7:4306103-4306104	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531636420	chr7:4306120-4306121	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188976158	chr7:4306128-4306129	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374176248	chr7:4306193-4306194	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34165065	chr7:4306200-4306201	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35404818	chr7:4306206-4306207	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534104034	chr7:4306207-4306208	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398003467	chr7:4306213-4306214	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547571092	chr7:4306227-4306228	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567516930	chr7:4306231-4306232	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536341748	chr7:4306244-4306245	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548884616	chr7:4306253-4306254	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145232227	chr7:4306276-4306277	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528898373	chr7:4306286-4306287	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547685410	chr7:4306322-4306323	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566886120	chr7:4306339-4306340	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538227367	chr7:4306340-4306341	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144603189	chr7:4306377-4306378	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376837314	chr7:4306378-4306379	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539626754	chr7:4306380-4306381	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147964409	chr7:4306393-4306394	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374214333	chr7:4306408-4306409	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs141851338	chr7:4306418-4306419	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs560310091	chr7:4306463-4306464	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs573931062	chr7:4306480-4306481	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs59729650	chr7:4306484-4306485	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562615192	chr7:4306498-4306499	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs531850132	chr7:4306511-4306512	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs551447625	chr7:4306566-4306567	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs565287040	chr7:4306584-4306585	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs117412862	chr7:4306592-4306593	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs547758031	chr7:4306652-4306653	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs77952272	chr7:4306694-4306695	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs536476403	chr7:4306710-4306711	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs550020444	chr7:4306807-4306808	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs570851947	chr7:4306820-4306821	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs369769645	chr7:4306825-4306826	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs538734945	chr7:4306838-4306839	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs192254914	chr7:4306901-4306902	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4294800-4311800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:4298200-4307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:4301400-4306600	Weak transcription	HSMMtube	muscle
4	chr7:4301600-4306600	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:4301600-4306600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:4301600-4307000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:4301600-4309800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:4304000-4307400	Strong transcription	Pancreas	Pancrea
9	chr7:4304200-4306600	Strong transcription	Fetal Intestine Small	intestine
10	chr7:4304200-4308400	Strong transcription	Aorta	Aorta
11	chr7:4304400-4306000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:4304800-4309600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:4304800-4310600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:4304800-4311400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:4305000-4306400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:4305000-4308400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:4305000-4314200	Weak transcription	Gastric	stomach
18	chr7:4305200-4306400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:4305200-4306400	Weak transcription	Spleen	Spleen
20	chr7:4305600-4306600	Strong transcription	Right Ventricle	heart
21	chr7:4306000-4306600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:4306400-4306600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:4306400-4306800	Enhancers	Spleen	Spleen
24	chr7:4306400-4307400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:4306400-4308400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:4306600-4307000	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:4306600-4307400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:4306600-4307800	Enhancers	Colon Smooth Muscle	Colon
29	chr7:4306600-4307800	Enhancers	Fetal Lung	lung
30	chr7:4306600-4307800	Enhancers	HSMMtube	muscle
31	chr7:4306600-4310000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:4306600-4313600	Weak transcription	Right Ventricle	heart
33	chr7:4306600-4314000	Weak transcription	Fetal Intestine Small	intestine
34	chr7:4306800-4307400	Weak transcription	Spleen	Spleen
35	chr7:4306800-4308200	Bivalent Enhancer	Fetal Stomach	stomach
36	chr7:4307000-4307200	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr7:4307000-4307400	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr7:4307000-4307400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr7:4307000-4308000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:4307200-4307400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr7:4307200-4308000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:4307400-4307600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:4307400-4307600	ZNF genes & repeats	Spleen	Spleen
44	chr7:4307400-4307800	Enhancers	Rectal Smooth Muscle	rectum
45	chr7:4307400-4308000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:4307400-4308000	ZNF genes & repeats	Pancreas	Pancrea
47	chr7:4307400-4308800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:4307400-4309000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:4307600-4308000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr7:4307600-4308000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links