Variant report

Variant	nsv961489
Chromosome Location	chr2:113737947-113742104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:113738960-113739110	GM12868	blood:	n/a	n/a
2	EBF1	chr2:113738126-113738410	GM12878	blood:	n/a	n/a
3	EBF1	chr2:113738111-113738377	GM12878	blood:	n/a	n/a
4	MAFK	chr2:113739568-113739807	HepG2	liver:	n/a	n/a
5	MAFK	chr2:113739610-113739758	HepG2	liver:	n/a	n/a
6	SPI1	chr2:113738035-113738367	GM12891	blood:	n/a	n/a
7	SPI1	chr2:113738007-113738299	GM12878	blood:	n/a	n/a
8	SPI1	chr2:113738060-113738301	GM12891	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113740507-113740557	ECC-1	luminal epithelium:	n/a
2	chr2:113740507-113740557	LNCaP	prostate:	n/a
3	chr2:113740507-113740557	AG09309	skin:	n/a
4	chr2:113740507-113740557	A549	lung:	n/a
5	chr2:113740507-113740557	PrEC	prostate:	n/a
6	chr2:113740507-113740557	HCF	heart:	n/a
7	chr2:113740507-113740557	HEK293	kidney:	embryo
8	chr2:113740507-113740557	GM12878	blood:	n/a
9	chr2:113740507-113740557	GM12892	blood:	n/a
10	chr2:113740507-113740557	GM06990	blood:	n/a
11	chr2:113740507-113740557	HNPCEpiC	eye:	n/a
12	chr2:113740507-113740557	IMR90	lung:	fetal
13	chr2:113740507-113740557	HUVEC	blood vessel:	n/a
14	chr2:113740507-113740557	HepG2	liver:	n/a
15	chr2:113740507-113740557	HRE	kidney:	n/a
16	chr2:113740507-113740557	GM12891	blood:	n/a
17	chr2:113740507-113740557	T-47D	breast:	n/a
18	chr2:113740507-113740557	RPTEC	kidney:	n/a
19	chr2:113740507-113740557	HEEpiC	esophagus:	n/a
20	chr2:113740507-113740557	NH-A	brain:	n/a
21	chr2:113740507-113740557	BJ	skin:	n/a
22	chr2:113740507-113740557	SAEC	small airway:	n/a
23	chr2:113740507-113740557	MCF10A-Er-Src	breast:	n/a
24	chr2:113740507-113740557	Caco-2	colon:	n/a
25	chr2:113740507-113740557	AG04450	lung:	fetal
26	chr2:113740507-113740557	K562	blood:	n/a
27	chr2:113740507-113740557	NT2-D1	testis:	n/a
28	chr2:113740507-113740557	CMK	blood:	n/a
29	chr2:113740507-113740557	ProgFib	skin:	n/a
30	chr2:113740507-113740557	HL-60	blood:	n/a
31	chr2:113740507-113740557	SKMC	muscle:	n/a
32	chr2:113740507-113740557	Jurkat	blood:	n/a
33	chr2:113740507-113740557	PFSK-1	brain:	n/a
34	chr2:113740507-113740557	Hela-S3	cervix:	n/a
35	chr2:113740507-113740557	PANC-1	pancreas:	n/a
36	chr2:113740507-113740557	HIPEpiC	eye:	n/a
37	chr2:113740507-113740557	Hepatocyte	liver:	n/a
38	chr2:113740507-113740557	HRCEpiC	kidney:	n/a
39	chr2:113740507-113740557	HRPEpiC	eye:	n/a
40	chr2:113740507-113740557	HAEpiC	amniotic membrane:	n/a
41	chr2:113740507-113740557	HCPEpiC	choroid plexus:	n/a
42	chr2:113740507-113740557	HCT-116	colon:	n/a
43	chr2:113740507-113740557	SK-N-SH_RA	brain:	n/a
44	chr2:113740507-113740557	ovcar-3	ovarian:	n/a
45	chr2:113740507-113740557	NHDF-neo	bronchial:	n/a
46	chr2:113740507-113740557	NB4	blood:	n/a
47	chr2:113740507-113740557	AG10803	skin:	n/a
48	chr2:113740507-113740557	BE2_C	brain:	n/a
49	chr2:113740507-113740557	NHBE	bronchial:	n/a
50	chr2:113740507-113740557	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113741483..113743922-chr2:113839528..113841138,2	K562	blood:
2	chr2:113741054..113743691-chr2:113744303..113746180,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL36B-1	chr2:113738743-113739011	NONHSAT073737
2	lnc-IL36G-1	chr2:113739523-113741050	ucscGeneNc_uc002tjs_2

No data

Variant related genes	Relation type
HMGN2P23	TF binding region
HMGN2P23	CpG island

Extended variants
information (count: 138 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548785314	chr2:113737970-113737971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568634137	chr2:113737974-113737975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141477884	chr2:113738003-113738004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145151910	chr2:113738012-113738013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13410389	chr2:113738023-113738024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs367900053	chr2:113738111-113738112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115035667	chr2:113738118-113738119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558607407	chr2:113738139-113738140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550454693	chr2:113738160-113738161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572328574	chr2:113738164-113738165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35938455	chr2:113738175-113738176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561148022	chr2:113738271-113738272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55701263	chr2:113738303-113738304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529660026	chr2:113738323-113738324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574248906	chr2:113738341-113738342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11683399	chr2:113738412-113738413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs13413331	chr2:113738413-113738414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192119459	chr2:113738426-113738427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183889159	chr2:113738435-113738436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566099099	chr2:113738503-113738504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187853667	chr2:113738509-113738510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143748692	chr2:113738542-113738543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148114603	chr2:113738543-113738544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548557943	chr2:113738545-113738546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568672918	chr2:113738600-113738601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537633144	chr2:113738655-113738656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs202153492	chr2:113738683-113738684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192460158	chr2:113738684-113738685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570936847	chr2:113738707-113738708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539521561	chr2:113738938-113738939	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs558235195	chr2:113738948-113738949	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs56198490	chr2:113738955-113738956	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs114713275	chr2:113738956-113738957	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs534924282	chr2:113738985-113738986	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs554443594	chr2:113739029-113739030	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs574330086	chr2:113739055-113739056	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs113394284	chr2:113739075-113739076	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs555973102	chr2:113739208-113739209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182598363	chr2:113739242-113739243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576550899	chr2:113739244-113739245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545165277	chr2:113739272-113739273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150625592	chr2:113739297-113739298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528027648	chr2:113739299-113739300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370166776	chr2:113739319-113739320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542557546	chr2:113739436-113739437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187067341	chr2:113739437-113739438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531156946	chr2:113739443-113739444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34216066	chr2:113739450-113739451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191840179	chr2:113739475-113739476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571024539	chr2:113739524-113739525	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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	17483303	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
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	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
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113733800-113739200	Enhancers	Primary T cells from cord blood	blood
2	chr2:113735200-113739000	Enhancers	Fetal Thymus	thymus
3	chr2:113736000-113747400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:113736800-113738600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:113736800-113738600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:113736800-113738600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr2:113737000-113738400	Enhancers	GM12878-XiMat	blood
8	chr2:113737000-113739200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:113737400-113738400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:113737400-113738400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr2:113737400-113738400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:113737400-113738600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:113737400-113742400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:113737600-113738000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:113737600-113742600	Weak transcription	Thymus	Thymus
16	chr2:113738000-113739200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:113738400-113742000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:113738400-113742400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:113738400-113742400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:113738600-113742000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:113738600-113742200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:113738600-113742200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:113738600-113742400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:113739000-113742200	Weak transcription	Fetal Thymus	thymus
25	chr2:113739200-113742200	Weak transcription	Primary T cells from cord blood	blood
26	chr2:113739200-113742200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:113742000-113743800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:113742000-113744000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links