Variant report

Variant	nsv968484
Chromosome Location	chr8:36109816-36121515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr8:36121143-36121394	T-47D	breast:	n/a	n/a
2	FOS	chr8:36112937-36113162	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr8:36112904-36113104	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr8:36112954-36113052	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr8:36119831-36120031	HepG2	liver:	n/a	n/a
6	MAFK	chr8:36121452-36121468	HepG2	liver:	n/a	n/a
7	MYC	chr8:36110730-36110853	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr8:36115755-36115939	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr8:36116887-36117000	ProgFib	skin:	n/a	n/a
10	STAT3	chr8:36112889-36113168	MCF10A-Er-Src	breast:	n/a	chr8:36112993-36113004
11	STAT3	chr8:36112888-36113158	MCF10A-Er-Src	breast:	n/a	chr8:36112993-36113004
12	STAT3	chr8:36112946-36113153	MCF10A-Er-Src	breast:	n/a	chr8:36112993-36113004
13	TEAD4	chr8:36114118-36114534	H1-hESC	embryonic stem cell:	n/a	chr8:36114280-36114289
14	TEAD4	chr8:36114027-36114520	H1-hESC	embryonic stem cell:	n/a	chr8:36114280-36114289

Variant related genes	Relation type
RN7SKP201	TF binding region

Extended variants
information (count: 121 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576766881	chr8:36113054-36113055	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540806925	chr8:36113078-36113079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553087340	chr8:36113087-36113088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574710608	chr8:36113088-36113089	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs542064463	chr8:36113105-36113106	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs76104776	chr8:36113120-36113121	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs140353209	chr8:36113153-36113154	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546075630	chr8:36113165-36113166	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs10086921	chr8:36113196-36113197	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115984312	chr8:36113248-36113249	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184792909	chr8:36113298-36113299	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145527080	chr8:36113313-36113314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111227891	chr8:36113333-36113334	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548382795	chr8:36113392-36113393	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570185017	chr8:36113484-36113485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139663643	chr8:36113589-36113590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201530426	chr8:36113590-36113591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35108488	chr8:36113597-36113598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7836504	chr8:36113604-36113605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552822945	chr8:36113627-36113628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570384936	chr8:36113628-36113629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74417212	chr8:36113630-36113631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370876419	chr8:36113647-36113648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146513560	chr8:36113784-36113785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148522477	chr8:36113811-36113812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535499250	chr8:36113813-36113814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192680765	chr8:36113815-36113816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575387353	chr8:36113838-36113839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183964472	chr8:36113844-36113845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564385493	chr8:36113871-36113872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188205584	chr8:36113921-36113922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542601609	chr8:36113945-36113946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114571160	chr8:36113946-36113947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377226292	chr8:36113954-36113955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548273267	chr8:36113997-36113998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181964342	chr8:36114013-36114014	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs531115438	chr8:36114026-36114027	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs117153396	chr8:36114057-36114058	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528083297	chr8:36114063-36114064	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs374489230	chr8:36114117-36114118	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs367577455	chr8:36114135-36114136	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184792065	chr8:36114156-36114157	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs546623834	chr8:36114177-36114178	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs79467915	chr8:36114189-36114190	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs1413875	chr8:36114239-36114240	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs112081679	chr8:36114259-36114260	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532273613	chr8:36114303-36114304	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374464326	chr8:36114305-36114306	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs557004159	chr8:36114334-36114335	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs189997117	chr8:36114345-36114346	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:36113000-36113400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:36113400-36114000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:36113600-36114600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:36113800-36114400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:36113800-36114400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:36113800-36114600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:36114000-36114200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:36114000-36114600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:36114200-36114600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:36114400-36115600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:36114600-36115000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:36114600-36115200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:36115000-36115400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:36115800-36116000	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links