Variant report

Variant	nsv932888
Chromosome Location	chr2:20199931-20202894
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	FOS	chr2:20201150-20201472	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:20201151-20201486	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:20201188-20201486	MCF10A-Er-Src	breast:	n/a	n/a
4	FOSL1	chr2:20201093-20201571	HCT-116	colon:	n/a	chr2:20201505-20201514
5	GATA3	chr2:20201239-20201341	SH-SY5Y	brain:	n/a	n/a
6	JUN	chr2:20201232-20201490	HepG2	liver:	n/a	chr2:20201307-20201320
7	JUND	chr2:20201207-20201473	HepG2	liver:	n/a	n/a
8	STAT3	chr2:20201361-20201385	MCF10A-Er-Src	breast:	n/a	n/a
9	TCF7L2	chr2:20200934-20201154	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20194768..20196948-chr2:20202160..20205024,2	K562	blood:
2	chr2:20189884..20192766-chr2:20201182..20203854,3	K562	blood:
3	chr2:20192789..20194315-chr2:20202066..20203747,2	MCF-7	breast:
4	chr2:20101150..20102700-chr2:20200120..20202007,2	K562	blood:

Variant related genes	Relation type
MATN3	TF binding region
ENSG00000227210	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000118965	chromatin interactions
ENSG00000183891	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76368270	chr2:20199947-20199948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550139514	chr2:20199959-20199960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566960143	chr2:20200005-20200006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535863649	chr2:20200026-20200027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187786088	chr2:20200174-20200175	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374506346	chr2:20200223-20200224	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375580786	chr2:20200235-20200236	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566567939	chr2:20200238-20200239	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370138146	chr2:20200254-20200255	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150154167	chr2:20200274-20200275	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558761609	chr2:20200276-20200277	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs367990044	chr2:20200286-20200287	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201458413	chr2:20200287-20200288	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs544548876	chr2:20200306-20200307	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs35303288	chr2:20200341-20200342	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533450563	chr2:20200396-20200397	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530775819	chr2:20200414-20200415	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs2306114	chr2:20200425-20200426	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574054587	chr2:20200506-20200507	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs10174684	chr2:20200535-20200536	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs138648181	chr2:20200536-20200537	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184084012	chr2:20200542-20200543	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs545269982	chr2:20200551-20200552	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550815470	chr2:20200580-20200581	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs34094341	chr2:20200647-20200648	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368924412	chr2:20200662-20200663	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565502935	chr2:20200665-20200666	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531096659	chr2:20200691-20200692	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs567335563	chr2:20200713-20200714	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187698571	chr2:20200751-20200752	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs367987822	chr2:20200821-20200822	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs529598002	chr2:20200855-20200856	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs546612726	chr2:20200906-20200907	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566439804	chr2:20200914-20200915	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192248336	chr2:20201020-20201021	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs149235699	chr2:20201084-20201085	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs569038724	chr2:20201126-20201127	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs144453098	chr2:20201164-20201165	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs554856033	chr2:20201165-20201166	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs574792751	chr2:20201182-20201183	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs543035410	chr2:20201203-20201204	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs10177664	chr2:20201222-20201223	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184390052	chr2:20201287-20201288	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs545519795	chr2:20201361-20201362	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs375120177	chr2:20201420-20201421	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs565253288	chr2:20201441-20201442	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs575408886	chr2:20201451-20201452	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs6734005	chr2:20201458-20201459	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368348092	chr2:20201537-20201538	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs528568613	chr2:20201539-20201540	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20190400-20207400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:20190600-20201000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:20190600-20211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:20190800-20205000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:20190800-20208400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:20191000-20211200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:20191400-20208000	Weak transcription	A549	lung
8	chr2:20196200-20202200	Strong transcription	HepG2	liver
9	chr2:20196600-20201200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:20197200-20203000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:20197600-20201600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:20200000-20206800	Weak transcription	HSMMtube	muscle
13	chr2:20200200-20211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:20201000-20201600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:20201200-20201600	Enhancers	HMEC	breast
16	chr2:20201200-20202000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:20201600-20201800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:20201600-20201800	Enhancers	Gastric	stomach
19	chr2:20201600-20203400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:20201800-20211400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:20201800-20212400	Weak transcription	Gastric	stomach
22	chr2:20202000-20210400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:20202200-20202600	Weak transcription	HepG2	liver
24	chr2:20202400-20210200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:20202600-20203000	Strong transcription	HepG2	liver

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