Variant report

Variant	nsv933790
Chromosome Location	chr2:20192727-20194334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:20192644-20192891	IMR90	lung:	n/a	n/a
2	MAFK	chr2:20192643-20192790	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20194085-20194135	AG04449	skin:	fetal
2	chr2:20194085-20194135	HCT-116	colon:	n/a
3	chr2:20194085-20194135	K562	blood:	n/a
4	chr2:20194085-20194135	MCF-7	breast:	n/a
5	chr2:20194085-20194135	PrEC	prostate:	n/a
6	chr2:20194085-20194135	LNCaP	prostate:	n/a
7	chr2:20194085-20194135	SK-N-SH	brain:	n/a
8	chr2:20194085-20194135	AoSMC	blood vessel:	n/a
9	chr2:20194085-20194135	GM12891	blood:	n/a
10	chr2:20194085-20194135	MCF10A-Er-Src	breast:	n/a
11	chr2:20194085-20194135	HNPCEpiC	eye:	n/a
12	chr2:20194085-20194135	RPTEC	kidney:	n/a
13	chr2:20194085-20194135	ProgFib	skin:	n/a
14	chr2:20194085-20194135	SKMC	muscle:	n/a
15	chr2:20194085-20194135	Jurkat	blood:	n/a
16	chr2:20194085-20194135	PFSK-1	brain:	n/a
17	chr2:20194085-20194135	HUVEC	blood vessel:	n/a
18	chr2:20194085-20194135	CMK	blood:	n/a
19	chr2:20194085-20194135	AG04450	lung:	fetal
20	chr2:20194085-20194135	HRPEpiC	eye:	n/a
21	chr2:20194085-20194135	GM06990	blood:	n/a
22	chr2:20194085-20194135	T-47D	breast:	n/a
23	chr2:20194085-20194135	AG10803	skin:	n/a
24	chr2:20194085-20194135	NHDF-neo	bronchial:	n/a
25	chr2:20194085-20194135	ovcar-3	ovarian:	n/a
26	chr2:20194085-20194135	HIPEpiC	eye:	n/a
27	chr2:20194085-20194135	Hepatocyte	liver:	n/a
28	chr2:20194085-20194135	ECC-1	luminal epithelium:	n/a
29	chr2:20194085-20194135	GM12892	blood:	n/a
30	chr2:20194085-20194135	AG09309	skin:	n/a
31	chr2:20194085-20194135	HRCEpiC	kidney:	n/a
32	chr2:20194085-20194135	HCF	heart:	n/a
33	chr2:20194085-20194135	A549	lung:	n/a
34	chr2:20194085-20194135	NB4	blood:	n/a
35	chr2:20194085-20194135	NHBE	bronchial:	n/a
36	chr2:20194085-20194135	HAEpiC	amniotic membrane:	n/a
37	chr2:20194085-20194135	SK-N-SH_RA	brain:	n/a
38	chr2:20194085-20194135	HepG2	liver:	n/a
39	chr2:20194085-20194135	BE2_C	brain:	n/a
40	chr2:20194085-20194135	NH-A	brain:	n/a
41	chr2:20194085-20194135	HMEC	breast:	n/a
42	chr2:20194085-20194135	BJ	skin:	n/a
43	chr2:20194085-20194135	HL-60	blood:	n/a
44	chr2:20194085-20194135	HEEpiC	esophagus:	n/a
45	chr2:20194085-20194135	SAEC	small airway:	n/a
46	chr2:20194085-20194135	Caco-2	colon:	n/a
47	chr2:20194085-20194135	GM12878	blood:	n/a
48	chr2:20194085-20194135	U87	brain:	n/a
49	chr2:20194085-20194135	HCM	heart:	n/a
50	chr2:20194085-20194135	HRE	kidney:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20188953..20191460-chr2:20192012..20197469,5	MCF-7	breast:
2	chr2:20192789..20194315-chr2:20202066..20203747,2	MCF-7	breast:
3	chr2:20172794..20174644-chr2:20194246..20195858,2	MCF-7	breast:
4	chr2:20192256..20194117-chr2:20249842..20252483,2	K562	blood:
5	chr2:20189892..20191955-chr2:20192120..20195267,4	MCF-7	breast:

No data

Variant related genes	Relation type
WDR35	TF binding region
WDR35	CpG island
ENSG00000068697	chromatin interactions
ENSG00000227210	chromatin interactions
ENSG00000223734	chromatin interactions
ENSG00000118965	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374164108	chr2:20192813-20192814	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs186870177	chr2:20192832-20192833	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs377607594	chr2:20192853-20192854	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs370798785	chr2:20192877-20192878	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs375672946	chr2:20192880-20192881	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs201304564	chr2:20192920-20192921	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs138400723	chr2:20192921-20192922	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs373656041	chr2:20192925-20192926	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs35973216	chr2:20192931-20192932	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566845987	chr2:20192934-20192935	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs531961925	chr2:20192987-20192988	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs552157884	chr2:20192992-20192993	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs142784514	chr2:20193017-20193018	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs201840297	chr2:20193086-20193087	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs543546841	chr2:20193156-20193157	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs117754097	chr2:20193203-20193204	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs554784490	chr2:20193278-20193279	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs191294078	chr2:20193367-20193368	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs372862017	chr2:20193393-20193394	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs76406844	chr2:20193434-20193435	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs557946709	chr2:20193521-20193522	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs147409847	chr2:20193552-20193553	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs577071558	chr2:20193554-20193555	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs34742301	chr2:20193645-20193646	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs75669705	chr2:20193649-20193650	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs540049890	chr2:20193653-20193654	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs13389848	chr2:20193685-20193686	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs558951627	chr2:20193785-20193786	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs138180842	chr2:20193793-20193794	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs55919320	chr2:20193826-20193827	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561061901	chr2:20193856-20193857	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs184346062	chr2:20193922-20193923	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs115095286	chr2:20193947-20193948	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs371255343	chr2:20194006-20194007	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs371504208	chr2:20194018-20194019	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs532878508	chr2:20194019-20194020	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs3820949	chr2:20194036-20194037	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs370974076	chr2:20194050-20194051	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs568861104	chr2:20194060-20194061	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs368657984	chr2:20194085-20194086	Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs531293171	chr2:20194117-20194118	Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs548276148	chr2:20194137-20194138	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs371946052	chr2:20194141-20194142	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542215191	chr2:20194151-20194152	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs376797243	chr2:20194181-20194182	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs143711983	chr2:20194186-20194187	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376389357	chr2:20194197-20194198	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs369200555	chr2:20194198-20194199	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547622818	chr2:20194249-20194250	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs570646592	chr2:20194264-20194265	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20190400-20194600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:20190400-20207400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:20190600-20192800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:20190600-20193200	Weak transcription	Fetal Lung	lung
5	chr2:20190600-20201000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:20190600-20211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:20190800-20195800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:20190800-20205000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:20190800-20208400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:20191000-20211200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:20191400-20192800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:20191400-20194800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:20191400-20208000	Weak transcription	A549	lung
14	chr2:20191600-20196200	Weak transcription	HepG2	liver
15	chr2:20192800-20194200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:20192800-20195400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:20193200-20194400	Enhancers	Fetal Lung	lung

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