Variant report

Variant	nsv961451
Chromosome Location	chr2:96176161-96194972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:378)
CpG islands
(count:610)
Chromatin interactive
region (count:2)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr2:96182341-96182550	GM12878	blood:	n/a	n/a
2	BCLAF1	chr2:96192227-96192741	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:96192160-96192652	GM12878	blood:	n/a	n/a
4	BRCA1	chr2:96192780-96192795	GM12878	blood:	n/a	n/a
5	CBX3	chr2:96192153-96192757	HCT-116	colon:	n/a	n/a
6	CHD1	chr2:96192329-96192795	GM12878	blood:	n/a	n/a
7	CHD1	chr2:96191867-96193071	IMR90	lung:	n/a	n/a
8	CHD2	chr2:96192255-96192690	GM12878	blood:	n/a	n/a
9	CTCF	chr2:96192380-96192530	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr2:96192200-96192350	GM06990	blood:	n/a	n/a
11	CTCF	chr2:96192160-96192310	HPF	lung:	n/a	n/a
12	CTCF	chr2:96192100-96192250	GM12873	blood:	n/a	n/a
13	CTCF	chr2:96192073-96192294	GM13976	blood:	n/a	n/a
14	CTCF	chr2:96192180-96192330	SAEC	small airway:	n/a	n/a
15	CTCF	chr2:96192066-96192314	Fibrobl	skin:	n/a	n/a
16	CTCF	chr2:96192160-96192310	AG04450	lung:	n/a	n/a
17	CTCF	chr2:96192160-96192310	GM06990	blood:	n/a	n/a
18	CTCF	chr2:96192180-96192330	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr2:96192137-96192266	GM12891	blood:	n/a	n/a
20	CTCF	chr2:96192020-96192170	GM06990	blood:	n/a	n/a
21	CTCF	chr2:96192140-96192290	GM12866	blood:	n/a	n/a
22	CTCF	chr2:96193381-96193507	GM19238	blood:	n/a	n/a
23	CTCF	chr2:96192220-96192370	GM12866	blood:	n/a	n/a
24	CTCF	chr2:96192580-96192730	GM12874	blood:	n/a	n/a
25	CTCF	chr2:96193695-96193781	GM13976	blood:	n/a	n/a
26	CTCF	chr2:96192180-96192330	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr2:96192180-96192330	AG04449	skin:	n/a	n/a
28	CTCF	chr2:96192140-96192290	GM12865	blood:	n/a	n/a
29	CTCF	chr2:96192180-96192330	WI-38	lung:	n/a	n/a
30	CTCF	chr2:96192077-96192308	LNCaP	prostate:	n/a	n/a
31	CTCF	chr2:96192058-96192283	K562	blood:	n/a	n/a
32	CTCF	chr2:96192180-96192330	GM12871	blood:	n/a	n/a
33	CTCF	chr2:96193340-96193490	GM12874	blood:	n/a	n/a
34	CTCF	chr2:96192180-96192330	HRE	kidney:	n/a	n/a
35	CTCF	chr2:96192120-96192270	GM12873	blood:	n/a	n/a
36	CTCF	chr2:96192540-96192690	HCM	heart:	n/a	n/a
37	CTCF	chr2:96192093-96192164	GM12892	blood:	n/a	n/a
38	CTCF	chr2:96192400-96192550	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr2:96192160-96192310	GM12878	blood:	n/a	n/a
40	CTCF	chr2:96193430-96193470	GM10266	blood:	n/a	n/a
41	CTCF	chr2:96192022-96192375	K562	blood:	n/a	n/a
42	CTCF	chr2:96192013-96192310	GM13977	blood:	n/a	n/a
43	CTCF	chr2:96192069-96192303	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:96192180-96192330	NHLF	lung:	n/a	n/a
45	CTCF	chr2:96192100-96192250	GM12870	blood:	n/a	n/a
46	CTCF	chr2:96192161-96192204	Medullo	brain:	n/a	n/a
47	CTCF	chr2:96192160-96192310	AG04449	skin:	n/a	n/a
48	CTCF	chr2:96192140-96192290	GM12869	blood:	n/a	n/a
49	CTCF	chr2:96192140-96192290	HFF	foreskin:	n/a	n/a
50	CTCF	chr2:96182751-96182782	GM10266	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96193797-96193847	HCF	heart:	n/a
2	chr2:96192273-96192323	AoSMC	blood vessel:	n/a
3	chr2:96191015-96191065	RPTEC	kidney:	n/a
4	chr2:96192273-96192323	HRCEpiC	kidney:	n/a
5	chr2:96191015-96191065	SKMC	muscle:	n/a
6	chr2:96192699-96192749	HRCEpiC	kidney:	n/a
7	chr2:96192699-96192749	HepG2	liver:	n/a
8	chr2:96193797-96193847	Caco-2	colon:	n/a
9	chr2:96191015-96191065	GM19239	blood:	n/a
10	chr2:96192526-96192576	LNCaP	prostate:	n/a
11	chr2:96191015-96191065	NB4	blood:	n/a
12	chr2:96193071-96193121	Jurkat	blood:	n/a
13	chr2:96193071-96193121	Caco-2	colon:	n/a
14	chr2:96192526-96192576	HRCEpiC	kidney:	n/a
15	chr2:96191354-96191404	BE2_C	brain:	n/a
16	chr2:96191158-96191208	K562	blood:	n/a
17	chr2:96193071-96193121	HRPEpiC	eye:	n/a
18	chr2:96192339-96192389	H1-hESC	embryonic stem cell:	embryo
19	chr2:96191158-96191208	ECC-1	luminal epithelium:	n/a
20	chr2:96192699-96192749	HCPEpiC	choroid plexus:	n/a
21	chr2:96192339-96192389	T-47D	breast:	n/a
22	chr2:96191015-96191065	Jurkat	blood:	n/a
23	chr2:96193797-96193847	PANC-1	pancreas:	n/a
24	chr2:96187269-96187319	AoSMC	blood vessel:	n/a
25	chr2:96192699-96192749	AoSMC	blood vessel:	n/a
26	chr2:96192699-96192749	HRPEpiC	eye:	n/a
27	chr2:96191015-96191065	LNCaP	prostate:	n/a
28	chr2:96191015-96191065	GM06990	blood:	n/a
29	chr2:96193071-96193121	ProgFib	skin:	n/a
30	chr2:96192526-96192576	IMR90	lung:	fetal
31	chr2:96192699-96192749	U87	brain:	n/a
32	chr2:96193071-96193121	NHBE	bronchial:	n/a
33	chr2:96191158-96191208	Caco-2	colon:	n/a
34	chr2:96191015-96191065	NH-A	brain:	n/a
35	chr2:96191354-96191404	HRPEpiC	eye:	n/a
36	chr2:96192273-96192323	HEEpiC	esophagus:	n/a
37	chr2:96191015-96191065	AG10803	skin:	n/a
38	chr2:96191158-96191208	GM12892	blood:	n/a
39	chr2:96191158-96191208	ProgFib	skin:	n/a
40	chr2:96193797-96193847	HIPEpiC	eye:	n/a
41	chr2:96192699-96192749	HEK293	kidney:	embryo
42	chr2:96192526-96192576	ProgFib	skin:	n/a
43	chr2:96191158-96191208	PFSK-1	brain:	n/a
44	chr2:96192273-96192323	AG09319	gingival:	n/a
45	chr2:96193797-96193847	H1-hESC	embryonic stem cell:	embryo
46	chr2:96192526-96192576	AoSMC	blood vessel:	n/a
47	chr2:96192273-96192323	AG09309	skin:	n/a
48	chr2:96192699-96192749	AG10803	skin:	n/a
49	chr2:96191015-96191065	T-47D	breast:	n/a
50	chr2:96191015-96191065	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96192581..96194179-chr2:96218990..96220757,2	MCF-7	breast:
2	chr2:96181336..96185168-chr2:96191342..96193679,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC009237.1-3	chr2:96181454-96181553	NONHSAT072493
2	lnc-AC009237.1-3	chr2:96180575-96180980	NONHSAT072493
3	lnc-AC009237.1-3	chr2:96183245-96183269	NONHSAT072493
4	lnc-AC009237.1-3	chr2:96184217-96184313	NONHSAT072493
5	lnc-AC009237.1-3	chr2:96182297-96182486	NONHSAT072493
6	lnc-AC009237.1-3	chr2:96185366-96185855	NONHSAT072493
7	lnc-AC009237.1-3	chr2:96181850-96181877	NONHSAT072493

No data

Variant related genes	Relation type
ENSG00000272913	TF binding region
TRIM64FP	TF binding region
ENSG00000229689	TF binding region
ENSG00000272913	CpG island
TRIM64FP	CpG island
ENSG00000229689	CpG island
ENSG00000272913	chromatin interactions
ENSG00000229689	chromatin interactions

Extended variants
information (count: 343 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377689988	chr2:96176404-96176405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536664188	chr2:96176423-96176424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs35997664	chr2:96176443-96176444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541888154	chr2:96176458-96176459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs371532599	chr2:96176489-96176490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs35214454	chr2:96176538-96176539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs144281404	chr2:96176540-96176541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs555599312	chr2:96176552-96176553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs557796727	chr2:96179226-96179227	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs577766920	chr2:96179230-96179231	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs541309084	chr2:96180499-96180500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149763069	chr2:96180560-96180561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567220783	chr2:96180561-96180562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532687298	chr2:96180608-96180609	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs145773096	chr2:96180648-96180649	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs571134634	chr2:96180690-96180691	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs186975968	chr2:96180691-96180692	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs556747222	chr2:96180786-96180787	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs567134592	chr2:96180812-96180813	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs536087720	chr2:96180910-96180911	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs552740294	chr2:96180917-96180918	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs577786870	chr2:96180929-96180930	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs572834516	chr2:96180960-96180961	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs115716669	chr2:96180983-96180984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558928925	chr2:96180984-96180985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35733569	chr2:96181406-96181407	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540871715	chr2:96181447-96181448	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371067349	chr2:96181501-96181502	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs560654551	chr2:96181603-96181604	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs532870182	chr2:96181686-96181687	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552568249	chr2:96181701-96181702	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs113670563	chr2:96181714-96181715	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
33	rs145684324	chr2:96181750-96181751	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191013502	chr2:96181757-96181758	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs114128458	chr2:96181827-96181828	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs567063606	chr2:96181904-96181905	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369884816	chr2:96181926-96181927	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs199910830	chr2:96181969-96181970	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs566518541	chr2:96181970-96181971	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538938313	chr2:96182006-96182007	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558528977	chr2:96182008-96182009	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs72948008	chr2:96182011-96182012	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138447120	chr2:96182012-96182013	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs554997313	chr2:96182076-96182077	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs575022345	chr2:96182095-96182096	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540710764	chr2:96182193-96182194	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560690558	chr2:96182210-96182211	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs577333449	chr2:96182312-96182313	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs546485868	chr2:96182323-96182324	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs562993911	chr2:96182347-96182348	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Medulloblastoma	20607354	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
Neuroblastoma	18574593	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96180400-96181000	Enhancers	Fetal Heart	heart
2	chr2:96180600-96181000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:96180600-96181000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:96180600-96181000	Enhancers	Left Ventricle	heart
5	chr2:96180600-96181000	Enhancers	Lung	lung
6	chr2:96180600-96181000	Enhancers	Right Ventricle	heart
7	chr2:96180600-96181000	Enhancers	K562	blood
8	chr2:96188400-96190000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:96189000-96191000	Weak transcription	Fetal Brain Male	brain
10	chr2:96189200-96191200	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:96190000-96190200	Enhancers	Pancreas	Pancrea
12	chr2:96190000-96190200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:96190000-96190200	Enhancers	GM12878-XiMat	blood
14	chr2:96190000-96190400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:96190000-96191400	Enhancers	Liver	Liver
16	chr2:96190200-96191000	Enhancers	Gastric	stomach
17	chr2:96190200-96191000	Weak transcription	Pancreas	Pancrea
18	chr2:96190200-96191200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:96190200-96191200	Weak transcription	GM12878-XiMat	blood
20	chr2:96190400-96190600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr2:96190400-96191000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:96190600-96190800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:96190600-96191000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:96190600-96191600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:96190800-96191000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:96190800-96191000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:96190800-96191000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:96190800-96191000	Enhancers	Lung	lung
29	chr2:96191000-96191200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:96191000-96191200	Enhancers	Adipose Nuclei	Adipose
31	chr2:96191000-96191200	Enhancers	Brain Anterior Caudate	brain
32	chr2:96191000-96191200	Enhancers	Brain Germinal Matrix	brain
33	chr2:96191000-96191200	Active TSS	Colonic Mucosa	Colon
34	chr2:96191000-96191200	Active TSS	Duodenum Mucosa	Duodenum
35	chr2:96191000-96191200	Genic enhancers	Pancreas	Pancrea
36	chr2:96191000-96191200	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr2:96191000-96191200	Enhancers	Right Atrium	heart
38	chr2:96191000-96191200	Enhancers	Stomach Smooth Muscle	stomach
39	chr2:96191000-96191400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:96191000-96191400	Enhancers	Fetal Brain Male	brain
41	chr2:96191000-96191400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr2:96191000-96191600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:96191000-96191600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:96191000-96191600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:96191000-96191600	Flanking Active TSS	Gastric	stomach
46	chr2:96191000-96191600	Flanking Active TSS	Lung	lung
47	chr2:96191000-96191800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:96191000-96191800	Flanking Active TSS	Esophagus	oesophagus
49	chr2:96191000-96191800	Enhancers	Fetal Heart	heart
50	chr2:96191000-96191800	ZNF genes & repeats	Fetal Stomach	stomach

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