Variant report

Variant	nsv582512
Chromosome Location	chr2:98272634-98277804
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	CTCF	chr2:98277780-98277930	GM12871	blood:	n/a	n/a
2	E2F6	chr2:98273249-98273807	H1-hESC	embryonic stem cell:	n/a	chr2:98273510-98273521
3	E2F6	chr2:98273450-98273652	K562	blood:	n/a	chr2:98273510-98273521
4	E2F6	chr2:98273377-98273614	K562	blood:	n/a	chr2:98273510-98273521
5	E2F6	chr2:98273345-98273655	H1-hESC	embryonic stem cell:	n/a	chr2:98273510-98273521
6	E2F6	chr2:98273301-98273899	K562	blood:	n/a	chr2:98273510-98273521
7	EGR1	chr2:98273352-98273645	K562	blood:	n/a	chr2:98273556-98273580
8	EGR1	chr2:98277244-98277515	K562	blood:	n/a	chr2:98277414-98277427
9	EGR1	chr2:98277225-98277580	K562	blood:	n/a	chr2:98277414-98277427
10	ELF1	chr2:98273468-98273827	K562	blood:	n/a	chr2:98273659-98273670 chr2:98273658-98273671
11	EP300	chr2:98275282-98275305	HepG2	liver:	n/a	n/a
12	GABPA	chr2:98277091-98277433	K562	blood:	n/a	n/a
13	GTF2F1	chr2:98273481-98273673	K562	blood:	n/a	n/a
14	JUND	chr2:98277332-98277488	K562	blood:	n/a	chr2:98277408-98277418 chr2:98277408-98277418 chr2:98277407-98277419 chr2:98277409-98277417 chr2:98277408-98277418
15	MAX	chr2:98273379-98273716	K562	blood:	n/a	chr2:98273531-98273541 chr2:98273531-98273541
16	MAX	chr2:98273247-98273807	ECC-1	luminal epithelium:	n/a	chr2:98273531-98273541 chr2:98273531-98273541
17	MAX	chr2:98273365-98273675	K562	blood:	n/a	chr2:98273531-98273541 chr2:98273531-98273541
18	MAX	chr2:98273284-98273718	ECC-1	luminal epithelium:	n/a	chr2:98273531-98273541 chr2:98273531-98273541
19	MAX	chr2:98277307-98277437	HepG2	liver:	n/a	n/a
20	MAX	chr2:98273382-98273609	K562	blood:	n/a	chr2:98273531-98273541 chr2:98273531-98273541
21	MAZ	chr2:98273536-98273538	K562	blood:	n/a	n/a
22	MAZ	chr2:98277321-98277385	K562	blood:	n/a	n/a
23	MXI1	chr2:98276035-98276065	HepG2	liver:	n/a	n/a
24	MYC	chr2:98273349-98273712	K562	blood:	n/a	chr2:98273531-98273541 chr2:98273531-98273541
25	MYC	chr2:98273392-98273696	K562	blood:	n/a	chr2:98273531-98273541 chr2:98273531-98273541
26	POLR2A	chr2:98274630-98274717	A549	lung:	n/a	n/a
27	POLR2A	chr2:98274036-98277810	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr2:98272564-98273145	K562	blood:	n/a	n/a
29	POLR2A	chr2:98272532-98272784	A549	lung:	n/a	n/a
30	POLR2A	chr2:98277533-98277547	HepG2	liver:	n/a	n/a
31	POLR2A	chr2:98275313-98275713	K562	blood:	n/a	n/a
32	POLR2A	chr2:98269792-98273825	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:98275622-98276081	GM12891	blood:	n/a	n/a
34	POLR2A	chr2:98272769-98273082	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr2:98273812-98273830	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr2:98274335-98277524	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:98277476-98277767	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:98274817-98275286	K562	blood:	n/a	n/a
39	POLR2A	chr2:98274438-98274761	GM12878	blood:	n/a	n/a
40	POLR2A	chr2:98274321-98275701	K562	blood:	n/a	n/a
41	POLR2A	chr2:98277350-98277683	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:98272628-98273436	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:98274531-98275433	GM12892	blood:	n/a	n/a
44	POLR2A	chr2:98272731-98273217	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:98276093-98277162	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:98273646-98274262	HL-60	blood:	n/a	n/a
47	POLR2A	chr2:98270627-98274205	GM12892	blood:	n/a	n/a
48	POLR2A	chr2:98275670-98276557	GM12891	blood:	n/a	n/a
49	POLR2A	chr2:98275791-98275970	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:98274626-98274905	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:98275410-98275460	MCF10A-Er-Src	breast:	n/a
2	chr2:98274972-98275022	HMEC	breast:	n/a
3	chr2:98275410-98275460	MCF10A-Er-Src	breast:	n/a
4	chr2:98274972-98275022	HMEC	breast:	n/a
5	chr2:98276287-98276337	HUVEC	blood vessel:	n/a
6	chr2:98275676-98275726	MCF-7	breast:	n/a
7	chr2:98275676-98275726	Jurkat	blood:	n/a
8	chr2:98276287-98276337	SK-N-SH_RA	brain:	n/a
9	chr2:98275002-98275052	Hela-S3	cervix:	n/a
10	chr2:98274951-98275001	HEEpiC	esophagus:	n/a
11	chr2:98274972-98275022	NHBE	bronchial:	n/a
12	chr2:98274988-98275038	GM19239	blood:	n/a
13	chr2:98274979-98275029	HCM	heart:	n/a
14	chr2:98276287-98276337	T-47D	breast:	n/a
15	chr2:98274988-98275038	AG09309	skin:	n/a
16	chr2:98274472-98274522	HCM	heart:	n/a
17	chr2:98276287-98276337	SAEC	small airway:	n/a
18	chr2:98274951-98275001	NT2-D1	testis:	n/a
19	chr2:98275002-98275052	T-47D	breast:	n/a
20	chr2:98274979-98275029	GM12892	blood:	n/a
21	chr2:98275002-98275052	NHDF-neo	bronchial:	n/a
22	chr2:98273086-98273136	Caco-2	colon:	n/a
23	chr2:98274951-98275001	HNPCEpiC	eye:	n/a
24	chr2:98276287-98276337	A549	lung:	n/a
25	chr2:98273086-98273136	AG04450	lung:	fetal
26	chr2:98275002-98275052	GM12891	blood:	n/a
27	chr2:98274472-98274522	SKMC	muscle:	n/a
28	chr2:98274988-98275038	NHDF-neo	bronchial:	n/a
29	chr2:98274988-98275038	PFSK-1	brain:	n/a
30	chr2:98275002-98275052	GM12878	blood:	n/a
31	chr2:98274472-98274522	HAEpiC	amniotic membrane:	n/a
32	chr2:98275410-98275460	SK-N-SH	brain:	n/a
33	chr2:98275002-98275052	PFSK-1	brain:	n/a
34	chr2:98273086-98273136	MCF10A-Er-Src	breast:	n/a
35	chr2:98274972-98275022	AG09319	gingival:	n/a
36	chr2:98274972-98275022	ovcar-3	ovarian:	n/a
37	chr2:98275002-98275052	BE2_C	brain:	n/a
38	chr2:98274951-98275001	HCPEpiC	choroid plexus:	n/a
39	chr2:98274472-98274522	GM12878	blood:	n/a
40	chr2:98274972-98275022	SK-N-MC	brain:	n/a
41	chr2:98274988-98275038	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:98274972-98275022	HCM	heart:	n/a
43	chr2:98273086-98273136	PrEC	prostate:	n/a
44	chr2:98274472-98274522	HRE	kidney:	n/a
45	chr2:98274979-98275029	MCF10A-Er-Src	breast:	n/a
46	chr2:98274988-98275038	HRE	kidney:	n/a
47	chr2:98274979-98275029	NH-A	brain:	n/a
48	chr2:98274984-98275034	MCF-7	breast:	n/a
49	chr2:98274984-98275034	SK-N-SH_RA	brain:	n/a
50	chr2:98276287-98276337	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr2:98277235..98279650-chr2:98312622..98314344,2	K562	blood:
2	chr2:98277787..98279697-chr2:98287927..98289913,2	MCF-7	breast:
3	chr2:98274121..98275927-chr2:98285096..98287220,2	K562	blood:
4	chr2:98277609..98280060-chr2:98302722..98304227,2	MCF-7	breast:

Variant related genes	Relation type
LINC01125	TF binding region
ACTR1B	TF binding region
LINC01125	CpG island
ACTR1B	CpG island
ENSG00000228486	chromatin interactions

Extended variants
information (count: 284 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:284 , 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	rs3475	chr2:98272634-98272635	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200706660	chr2:98272669-98272670	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192788407	chr2:98272672-98272673	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386648418	chr2:98272680-98272681	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371815573	chr2:98272716-98272717	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79278306	chr2:98272717-98272718	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3474	chr2:98272734-98272735	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs534849011	chr2:98272737-98272738	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371854496	chr2:98272746-98272747	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576921391	chr2:98272800-98272801	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150348093	chr2:98272819-98272820	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555107336	chr2:98272841-98272842	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13452	chr2:98272862-98272863	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556467302	chr2:98272873-98272874	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576420092	chr2:98272887-98272888	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541829804	chr2:98272925-98272926	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561557361	chr2:98272996-98272997	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572872164	chr2:98273001-98273002	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527370989	chr2:98273014-98273015	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540729415	chr2:98273017-98273018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533606691	chr2:98273022-98273023	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564213226	chr2:98273023-98273024	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533336963	chr2:98273066-98273067	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79852251	chr2:98273077-98273078	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138158305	chr2:98273086-98273087	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143901671	chr2:98273101-98273102	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558211836	chr2:98273123-98273124	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529573514	chr2:98273133-98273134	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563233396	chr2:98273204-98273205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548958790	chr2:98273226-98273227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182563646	chr2:98273233-98273234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535024690	chr2:98273260-98273261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11547232	chr2:98273290-98273291	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs75426220	chr2:98273310-98273311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367789855	chr2:98273335-98273336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559419020	chr2:98273346-98273347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147578035	chr2:98273378-98273379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145451808	chr2:98273379-98273380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149017256	chr2:98273383-98273384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141327360	chr2:98273423-98273424	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373524593	chr2:98273443-98273444	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111464527	chr2:98273471-98273472	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539608287	chr2:98273472-98273473	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556426438	chr2:98273481-98273482	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576383311	chr2:98273487-98273488	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542185343	chr2:98273518-98273519	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375541865	chr2:98273536-98273537	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555644498	chr2:98273542-98273543	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368665134	chr2:98273560-98273561	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200156763	chr2:98273578-98273579	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98264600-98277400	Weak transcription	Right Atrium	heart
2	chr2:98265200-98272800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:98265200-98276800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:98265200-98277200	Weak transcription	HUVEC	blood vessel
5	chr2:98265400-98273600	Weak transcription	Hela-S3	cervix
6	chr2:98265600-98274400	Weak transcription	Psoas Muscle	Psoas
7	chr2:98265600-98277600	Weak transcription	Small Intestine	intestine
8	chr2:98265600-98277800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:98265800-98277200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:98266000-98272800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:98266000-98272800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:98266000-98273000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:98266200-98272800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:98266400-98273000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:98266600-98272800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:98266600-98272800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:98266600-98272800	Weak transcription	GM12878-XiMat	blood
18	chr2:98266600-98273400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:98266600-98277200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:98267600-98272800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:98267600-98273000	Weak transcription	HMEC	breast
22	chr2:98269000-98275200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:98270000-98275600	Strong transcription	Primary B cells from cord blood	blood
24	chr2:98270000-98275600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr2:98270200-98275800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr2:98270200-98276800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:98270200-98277200	Strong transcription	Brain Cingulate Gyrus	brain
28	chr2:98270400-98275400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:98270400-98277200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:98270400-98278200	Strong transcription	Primary T cells from cord blood	blood
31	chr2:98270400-98278200	Weak transcription	Stomach Mucosa	stomach
32	chr2:98270600-98277000	Strong transcription	Osteobl	bone
33	chr2:98270600-98277400	Strong transcription	Dnd41	blood
34	chr2:98270600-98277600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:98270600-98277800	Strong transcription	Thymus	Thymus
36	chr2:98270800-98273600	Strong transcription	Gastric	stomach
37	chr2:98270800-98276000	Strong transcription	Pancreas	Pancrea
38	chr2:98270800-98276400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:98270800-98276400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:98270800-98276800	Strong transcription	Right Ventricle	heart
41	chr2:98270800-98277400	Strong transcription	Rectal Smooth Muscle	rectum
42	chr2:98271000-98275400	Strong transcription	NHDF-Ad	bronchial
43	chr2:98271000-98275800	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:98271000-98276800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:98271000-98277200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr2:98271000-98278000	Weak transcription	Fetal Brain Male	brain
47	chr2:98271200-98272800	Weak transcription	Brain Anterior Caudate	brain
48	chr2:98271200-98273600	Weak transcription	HSMMtube	muscle
49	chr2:98271200-98275200	Weak transcription	Fetal Heart	heart
50	chr2:98271200-98275800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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