Variant report

Variant	nsv961863
Chromosome Location	chr2:110489979-110504065
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	BACH1	chr2:110493854-110494137	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr2:110493847-110494110	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr2:110493920-110494070	HEEpiC	esophagus:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
4	CTCF	chr2:110493920-110494070	GM12875	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
5	CTCF	chr2:110493920-110494070	SAEC	small airway:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
6	CTCF	chr2:110493920-110494070	HEK293	kidney:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
7	CTCF	chr2:110493920-110494070	GM12869	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
8	CTCF	chr2:110493800-110494246	MCF-7	breast:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
9	CTCF	chr2:110493920-110494070	HBMEC	blood vessel:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
10	CTCF	chr2:110493869-110494122	MCF-7	breast:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
11	CTCF	chr2:110493894-110494063	ECC-1	luminal epithelium:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
12	CTCF	chr2:110493801-110494053	H1-hESC	embryonic stem cell:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
13	CTCF	chr2:110493860-110494010	GM12873	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
14	CTCF	chr2:110493862-110494121	LNCaP	prostate:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
15	CTCF	chr2:110493820-110493970	AG04450	lung:	n/a	n/a
16	CTCF	chr2:110493940-110494090	HMEC	breast:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
17	CTCF	chr2:110493960-110494110	GM12871	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
18	CTCF	chr2:110493920-110494070	GM12871	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
19	CTCF	chr2:110493900-110494050	WERI-Rb-1	eye:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
20	CTCF	chr2:110493860-110494010	GM12864	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
21	CTCF	chr2:110493920-110494070	HA-sp	spinal cord:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
22	CTCF	chr2:110493900-110494050	GM12872	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
23	CTCF	chr2:110493920-110494070	K562	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
24	CTCF	chr2:110493900-110494050	Caco-2	colon:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
25	CTCF	chr2:110493920-110494070	GM12878	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
26	CTCF	chr2:110493820-110493970	AG09309	skin:	n/a	n/a
27	CTCF	chr2:110493900-110494050	GM12873	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
28	CTCF	chr2:110493872-110494131	Spleen_OC	spleen:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
29	CTCF	chr2:110493920-110494070	HL-60	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
30	CTCF	chr2:110493848-110494135	Gliobla	brain:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
31	CTCF	chr2:110493920-110494070	MCF-7	breast:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
32	CTCF	chr2:110493850-110494182	A549	lung:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
33	CTCF	chr2:110493850-110494110	Lung_OC	lung:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
34	CTCF	chr2:110493920-110494070	AG04449	skin:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
35	CTCF	chr2:110493820-110493970	HCM	heart:	n/a	n/a
36	CTCF	chr2:110493714-110494195	HepG2	liver:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
37	CTCF	chr2:110493920-110494070	GM12874	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
38	CTCF	chr2:110493747-110494055	H1-hESC	embryonic stem cell:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
39	CTCF	chr2:110493780-110494406	IMR90	lung:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
40	CTCF	chr2:110493876-110494078	MCF-7	breast:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
41	CTCF	chr2:110493840-110493990	GM12868	blood:	n/a	n/a
42	CTCF	chr2:110493565-110494536	SK-N-SH	brain:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
43	CTCF	chr2:110493890-110494059	GM12891	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
44	CTCF	chr2:110493920-110494070	HRE	kidney:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
45	CTCF	chr2:110493866-110494157	Kidney_OC	kidney:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
46	CTCF	chr2:110493820-110493970	GM12870	blood:	n/a	n/a
47	CTCF	chr2:110493860-110494010	RPTEC	kidney:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
48	CTCF	chr2:110493820-110493970	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr2:110493921-110494049	H1-hESC	embryonic stem cell:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008
50	CTCF	chr2:110493900-110494050	GM06990	blood:	n/a	chr2:110493993-110494009 chr2:110493992-110494010 chr2:110493994-110494007 chr2:110493987-110494008

No.	Distal block	Cell Line	Cell type
1	chr2:110303139..110304334-chr2:110493545..110494430,6	MCF-7	breast:
2	chr2:110303649..110304318-chr2:110493558..110494245,2	K562	blood:
3	chr2:110273703..110274218-chr2:110493544..110494330,2	MCF-7	breast:
4	chr2:110273525..110274131-chr2:110493868..110494433,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGPD5-1	chr2:110490308-110490713	NONHSAT073149

Variant related genes	Relation type
RPL22P11	TF binding region
ENSG00000233307	TF binding region

Extended variants
information (count: 157 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181490493	chr2:110489984-110489985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373632761	chr2:110490001-110490002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577077036	chr2:110490031-110490032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533620672	chr2:110490034-110490035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566961420	chr2:110490058-110490059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185734193	chr2:110490087-110490088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553284552	chr2:110490105-110490106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553484775	chr2:110490117-110490118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576420793	chr2:110490133-110490134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141435921	chr2:110490142-110490143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4953771	chr2:110490157-110490158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576218137	chr2:110490178-110490179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79136847	chr2:110490179-110490180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529804909	chr2:110490182-110490183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75674849	chr2:110490198-110490199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543004186	chr2:110490202-110490203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563291878	chr2:110490212-110490213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575996128	chr2:110490221-110490222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532186232	chr2:110490226-110490227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552485869	chr2:110490243-110490244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35656289	chr2:110490244-110490245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188632414	chr2:110490288-110490289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181100695	chr2:110490289-110490290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568424522	chr2:110490291-110490292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186246119	chr2:110490292-110490293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190766336	chr2:110490298-110490299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184159648	chr2:110490442-110490443	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs539473009	chr2:110490443-110490444	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs553219510	chr2:110490460-110490461	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs573216651	chr2:110490494-110490495	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs542125268	chr2:110490563-110490564	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs542016196	chr2:110490608-110490609	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs140812526	chr2:110490609-110490610	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs575793599	chr2:110490611-110490612	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs543496054	chr2:110490620-110490621	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs563407239	chr2:110490656-110490657	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs532124515	chr2:110490688-110490689	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs150147065	chr2:110490691-110490692	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs138416553	chr2:110490696-110490697	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs528407630	chr2:110490733-110490734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374898352	chr2:110490757-110490758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536086880	chr2:110490758-110490759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35973662	chr2:110490773-110490774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548035132	chr2:110490780-110490781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186383940	chr2:110490983-110490984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190890146	chr2:110490984-110490985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200258509	chr2:110491013-110491014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71383884	chr2:110491014-110491015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34461356	chr2:110491022-110491023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551030036	chr2:110491036-110491037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovarian cancer	21781307	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
Autism	22549408	CNVD
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110487800-110493800	Weak transcription	Esophagus	oesophagus
2	chr2:110493400-110493800	Enhancers	HepG2	liver
3	chr2:110493600-110494000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:110493600-110494000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:110493600-110494200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:110493600-110494200	Enhancers	NHEK	skin
7	chr2:110493800-110494000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:110493800-110494000	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:110493800-110494000	Flanking Active TSS	HepG2	liver
10	chr2:110493800-110494200	Enhancers	Adipose Nuclei	Adipose
11	chr2:110493800-110494200	Enhancers	Esophagus	oesophagus
12	chr2:110494000-110494200	Enhancers	A549	lung
13	chr2:110494000-110494200	Enhancers	HepG2	liver
14	chr2:110494000-110494200	Flanking Active TSS	Osteobl	bone
15	chr2:110494000-110494400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:110494000-110494400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:110494000-110494400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:110494200-110494400	Flanking Active TSS	HepG2	liver
19	chr2:110494200-110494400	Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links