Variant report

Variant	nsv961998
Chromosome Location	chr2:114228793-114239746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr2:114238925-114239211	GM12878	blood:	n/a	n/a
2	FOXA1	chr2:114234431-114234793	HepG2	liver:	n/a	n/a
3	FOXA2	chr2:114234314-114235013	A549	lung:	n/a	n/a
4	FOXA2	chr2:114234484-114234769	A549	lung:	n/a	n/a
5	HEY1	chr2:114234598-114234912	K562	blood:	n/a	n/a
6	HEY1	chr2:114234610-114234903	K562	blood:	n/a	n/a
7	JUND	chr2:114237419-114237614	HepG2	liver:	n/a	n/a
8	PAX5	chr2:114238765-114239105	GM12878	blood:	n/a	chr2:114239014-114239023
9	POLR2A	chr2:114234928-114235211	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:114234829-114235117	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:114234415-114235387	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:114237730-114238025	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:114234623-114234906	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:114237324-114237521	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:114230778-114230940	K562	blood:	n/a	n/a
16	POLR2A	chr2:114234626-114234823	H1-hESC	embryonic stem cell:	n/a	n/a
17	POU2F2	chr2:114237378-114237570	GM12878	blood:	n/a	n/a
18	POU2F2	chr2:114237102-114238052	GM12878	blood:	n/a	n/a
19	POU2F2	chr2:114235257-114235398	GM12878	blood:	n/a	n/a
20	POU2F2	chr2:114238776-114239219	GM12878	blood:	n/a	n/a
21	REST	chr2:114229434-114229612	H1-hESC	embryonic stem cell:	n/a	n/a
22	RXRA	chr2:114237770-114237987	HepG2	liver:	n/a	n/a
23	SP1	chr2:114228499-114228884	GM12878	blood:	n/a	n/a
24	SP1	chr2:114229444-114229666	HepG2	liver:	n/a	n/a
25	TAF1	chr2:114234608-114235236	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF1	chr2:114234650-114235232	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZBTB33	chr2:114229449-114229656	HepG2	liver:	n/a	n/a
28	ZBTB33	chr2:114238650-114239242	HepG2	liver:	n/a	n/a
29	ZBTB33	chr2:114237329-114237637	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
CBWD2	TF binding region

Extended variants
information (count: 255 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199643610	chr2:114228794-114228795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369712593	chr2:114228828-114228829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193210733	chr2:114228869-114228870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545835220	chr2:114228870-114228871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2592460	chr2:114228904-114228905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563380619	chr2:114228955-114228956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573367795	chr2:114228993-114228994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs70937223	chr2:114229044-114229045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184841387	chr2:114229057-114229058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201535766	chr2:114229079-114229080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199720467	chr2:114229085-114229086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562246183	chr2:114229090-114229091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531046861	chr2:114229102-114229103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544807041	chr2:114229130-114229131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529461470	chr2:114229149-114229150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564577106	chr2:114229202-114229203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549595059	chr2:114229204-114229205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7566223	chr2:114229228-114229229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs201703556	chr2:114229237-114229238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546178602	chr2:114229319-114229320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369993893	chr2:114229327-114229328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7559663	chr2:114229338-114229339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548700162	chr2:114229374-114229375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568624546	chr2:114229388-114229389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373391431	chr2:114229451-114229452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149281183	chr2:114229518-114229519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537618100	chr2:114229532-114229533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369995546	chr2:114229563-114229564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528811712	chr2:114229595-114229596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6542140	chr2:114229613-114229614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551559830	chr2:114229619-114229620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571413292	chr2:114229630-114229631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370298473	chr2:114229631-114229632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6542141	chr2:114229670-114229671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553401624	chr2:114229672-114229673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6542142	chr2:114229673-114229674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373941067	chr2:114229737-114229738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535937342	chr2:114229753-114229754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9989736	chr2:114229769-114229770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555863392	chr2:114229783-114229784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200032262	chr2:114229791-114229792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575695340	chr2:114229816-114229817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374331530	chr2:114229838-114229839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544439204	chr2:114229857-114229858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10176189	chr2:114229881-114229882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578184719	chr2:114229987-114229988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540550574	chr2:114230022-114230023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7597200	chr2:114230169-114230170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571275880	chr2:114230181-114230182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559700439	chr2:114230228-114230229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114196200-114230800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr2:114196200-114234000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:114196200-114238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:114196200-114242200	Weak transcription	Fetal Intestine Small	intestine
5	chr2:114196200-114255400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:114196600-114234800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:114196600-114235400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:114196600-114241200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:114196600-114247000	Weak transcription	Liver	Liver
10	chr2:114202800-114256400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:114203000-114229800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:114203000-114230200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:114204600-114230400	Weak transcription	Dnd41	blood
14	chr2:114204600-114234400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:114220200-114252600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:114220200-114256200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:114220600-114234200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:114221600-114253800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:114230600-114235800	Weak transcription	Lung	lung
20	chr2:114233000-114236400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:114234000-114257800	Weak transcription	Primary T cells from cord blood	blood
22	chr2:114234200-114234600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr2:114234200-114234600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr2:114234200-114234600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr2:114234200-114234600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:114234200-114234600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:114234200-114234600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:114234400-114234600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:114234400-114234600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:114234400-114234600	Enhancers	Placenta	Placenta
31	chr2:114234600-114234800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:114235400-114235800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links