Variant report

Variant	nsv508157
Chromosome Location	chr2:110676276-110741221
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	BATF	chr2:110738365-110738645	GM12878	blood:	n/a	n/a
2	BATF	chr2:110733954-110734198	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:110738261-110738582	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:110723775-110724206	HepG2	liver:	n/a	n/a
5	CBX3	chr2:110738340-110738572	K562	blood:	n/a	n/a
6	CTCF	chr2:110734068-110734205	Kidney_OC	kidney:	n/a	chr2:110734108-110734126
7	CTCF	chr2:110725682-110725724	GM13977	blood:	n/a	n/a
8	CTCF	chr2:110727512-110727731	GM13976	blood:	n/a	n/a
9	CTCF	chr2:110727517-110727729	LNCaP	prostate:	n/a	n/a
10	CTCF	chr2:110738374-110738628	H1-hESC	embryonic stem cell:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
11	CTCF	chr2:110739171-110739196	GM10248	blood:	n/a	n/a
12	CTCF	chr2:110738388-110738632	Hela-S3	cervix:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
13	CTCF	chr2:110733953-110734249	MCF-7	breast:	n/a	chr2:110734108-110734126
14	CTCF	chr2:110733987-110734205	IMR90	lung:	n/a	chr2:110734108-110734126
15	CTCF	chr2:110738370-110738648	ProgFib	skin:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
16	CTCF	chr2:110738680-110738830	HPF	lung:	n/a	n/a
17	CTCF	chr2:110738723-110738726	GM10266	blood:	n/a	n/a
18	CTCF	chr2:110733968-110734226	MCF-7	breast:	n/a	chr2:110734108-110734126
19	CTCF	chr2:110727458-110727824	K562	blood:	n/a	n/a
20	CTCF	chr2:110738350-110738687	GM19240	blood:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
21	CTCF	chr2:110738355-110738672	K562	blood:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
22	CTCF	chr2:110738386-110738688	GM20000	blood:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
23	CTCF	chr2:110727381-110727951	A549	lung:	n/a	n/a
24	CTCF	chr2:110734008-110734247	Pancreas_OC	pancreas:	n/a	chr2:110734108-110734126
25	CTCF	chr2:110727551-110727575	GM19240	blood:	n/a	n/a
26	CTCF	chr2:110733956-110734256	A549	lung:	n/a	chr2:110734108-110734126
27	CTCF	chr2:110738357-110738627	A549	lung:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
28	CTCF	chr2:110690354-110690387	GM20000	blood:	n/a	n/a
29	CTCF	chr2:110738761-110738867	GM10266	blood:	n/a	n/a
30	CTCF	chr2:110738335-110738697	GM19238	blood:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
31	CTCF	chr2:110738368-110738685	HUVEC	blood vessel:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
32	CTCF	chr2:110738401-110738691	Lung_OC	lung:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
33	CTCF	chr2:110728897-110728916	GM13976	blood:	n/a	n/a
34	CTCF	chr2:110733972-110734229	Fibrobl	skin:	n/a	chr2:110734108-110734126
35	CTCF	chr2:110739130-110739143	GM10248	blood:	n/a	n/a
36	CTCF	chr2:110738346-110738666	NHEK	skin:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
37	CTCF	chr2:110727534-110727613	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:110738366-110738641	MCF-7	breast:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
39	CTCF	chr2:110726347-110726429	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr2:110738215-110738810	K562	blood:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
41	CTCF	chr2:110738680-110738830	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr2:110727483-110727763	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr2:110724824-110724842	GM13976	blood:	n/a	n/a
44	CTCF	chr2:110733961-110734247	GM12878	blood:	n/a	chr2:110734108-110734126
45	CTCF	chr2:110727329-110727943	K562	blood:	n/a	n/a
46	CTCF	chr2:110733975-110734218	Hela-S3	cervix:	n/a	chr2:110734108-110734126
47	CTCF	chr2:110721989-110722041	GM10248	blood:	n/a	n/a
48	CTCF	chr2:110727485-110727780	Medullo	brain:	n/a	n/a
49	CTCF	chr2:110738366-110738665	MCF-7	breast:	n/a	chr2:110738522-110738540 chr2:110738517-110738538 chr2:110738528-110738537 chr2:110738525-110738535
50	CTCF	chr2:110733987-110734205	HepG2	liver:	n/a	chr2:110734108-110734126

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:110705781-110705831	H1-hESC	embryonic stem cell:	embryo
2	chr2:110705781-110705831	HUVEC	blood vessel:	n/a
3	chr2:110706159-110706209	NHBE	bronchial:	n/a
4	chr2:110705781-110705831	HCM	heart:	n/a
5	chr2:110706159-110706209	PANC-1	pancreas:	n/a
6	chr2:110705781-110705831	HAEpiC	amniotic membrane:	n/a
7	chr2:110705781-110705831	ECC-1	luminal epithelium:	n/a
8	chr2:110705781-110705831	SKMC	muscle:	n/a
9	chr2:110705781-110705831	HRPEpiC	eye:	n/a
10	chr2:110705781-110705831	HRCEpiC	kidney:	n/a
11	chr2:110705781-110705831	HRE	kidney:	n/a
12	chr2:110706159-110706209	AG09309	skin:	n/a
13	chr2:110706159-110706209	HRE	kidney:	n/a
14	chr2:110705781-110705831	HEK293	kidney:	embryo
15	chr2:110705781-110705831	NHBE	bronchial:	n/a
16	chr2:110706159-110706209	HEK293	kidney:	embryo
17	chr2:110706159-110706209	HL-60	blood:	n/a
18	chr2:110706159-110706209	BJ	skin:	n/a
19	chr2:110705781-110705831	SK-N-SH_RA	brain:	n/a
20	chr2:110706159-110706209	Hepatocyte	liver:	n/a
21	chr2:110705781-110705831	ProgFib	skin:	n/a
22	chr2:110705781-110705831	PANC-1	pancreas:	n/a
23	chr2:110706159-110706209	BE2_C	brain:	n/a
24	chr2:110705781-110705831	MCF10A-Er-Src	breast:	n/a
25	chr2:110706159-110706209	Jurkat	blood:	n/a
26	chr2:110706159-110706209	GM12891	blood:	n/a
27	chr2:110706159-110706209	NB4	blood:	n/a
28	chr2:110706159-110706209	U87	brain:	n/a
29	chr2:110705781-110705831	HNPCEpiC	eye:	n/a
30	chr2:110706159-110706209	PFSK-1	brain:	n/a
31	chr2:110705781-110705831	Caco-2	colon:	n/a
32	chr2:110706159-110706209	MCF10A-Er-Src	breast:	n/a
33	chr2:110705781-110705831	NHDF-neo	bronchial:	n/a
34	chr2:110705781-110705831	AG04449	skin:	fetal
35	chr2:110706159-110706209	H1-hESC	embryonic stem cell:	embryo
36	chr2:110706159-110706209	HCF	heart:	n/a
37	chr2:110706159-110706209	HRCEpiC	kidney:	n/a
38	chr2:110706159-110706209	RPTEC	kidney:	n/a
39	chr2:110705781-110705831	SK-N-MC	brain:	n/a
40	chr2:110705781-110705831	AoSMC	blood vessel:	n/a
41	chr2:110705781-110705831	U87	brain:	n/a
42	chr2:110705781-110705831	CMK	blood:	n/a
43	chr2:110706159-110706209	SK-N-SH_RA	brain:	n/a
44	chr2:110706159-110706209	MCF-7	breast:	n/a
45	chr2:110706159-110706209	NHDF-neo	bronchial:	n/a
46	chr2:110705781-110705831	PrEC	prostate:	n/a
47	chr2:110705781-110705831	T-47D	breast:	n/a
48	chr2:110705781-110705831	AG10803	skin:	n/a
49	chr2:110706159-110706209	HIPEpiC	eye:	n/a
50	chr2:110705781-110705831	Hela-S3	cervix:	n/a

Variant related genes	Relation type
LINC01123	TF binding region
GPAA1P1	TF binding region
ENSG00000186148	TF binding region
LINC01123	CpG island
GPAA1P1	CpG island
ENSG00000186148	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62159067	chr2:110685770-110685771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs78658664	chr2:110685934-110685935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs336803	chr2:110694251-110694252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs1966906	chr2:110694378-110694379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs540625662	chr2:110738259-110738260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs336701	chr2:110738305-110738306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs369269722	chr2:110738327-110738328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560727210	chr2:110738391-110738392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs529603276	chr2:110738494-110738495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549743418	chr2:110738737-110738738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs185889550	chr2:110738774-110738775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs531964331	chr2:110738777-110738778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs199500468	chr2:110738798-110738799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs550367611	chr2:110738812-110738813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs367985110	chr2:110738843-110738844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs538696574	chr2:110738844-110738845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539014538	chr2:110738899-110738900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs546569449	chr2:110738931-110738932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs2124961	chr2:110739130-110739131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs563189274	chr2:110739678-110739679	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Disease	19212409	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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