Variant report

Variant	nsv1005115
Chromosome Location	chr2:78307330-78673948
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:847)
CpG islands
(count:62)
Chromatin interactive
region (count:23)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:847 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:78643666-78644757	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:78413821-78414186	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:78532952-78532953	K562	blood:	n/a	n/a
4	ARID3A	chr2:78578413-78578720	K562	blood:	n/a	n/a
5	ARID3A	chr2:78487915-78488675	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:78653375-78653864	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:78578391-78578636	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:78389314-78389802	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:78361077-78361118	K562	blood:	n/a	n/a
10	ARID3A	chr2:78336522-78336700	HepG2	liver:	n/a	n/a
11	ATF1	chr2:78361002-78361126	K562	blood:	n/a	n/a
12	ATF1	chr2:78408127-78408325	K562	blood:	n/a	n/a
13	BACH1	chr2:78368178-78368199	K562	blood:	n/a	n/a
14	BACH1	chr2:78477710-78477711	K562	blood:	n/a	n/a
15	BATF	chr2:78508305-78508535	GM12878	blood:	n/a	n/a
16	BATF	chr2:78428253-78428380	GM12878	blood:	n/a	n/a
17	BATF	chr2:78508306-78508624	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:78508311-78508495	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:78508455-78508636	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:78490807-78490864	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:78389461-78389669	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:78487986-78488343	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:78577077-78577375	IMR90	lung:	n/a	chr2:78577256-78577265 chr2:78577254-78577265 chr2:78577256-78577267 chr2:78577256-78577265 chr2:78577256-78577265 chr2:78577256-78577265
24	CEBPB	chr2:78413736-78414060	A549	lung:	n/a	chr2:78413883-78413892 chr2:78413883-78413892 chr2:78413883-78413892 chr2:78413881-78413894 chr2:78413882-78413893 chr2:78413881-78413894 chr2:78413881-78413892 chr2:78413883-78413892
25	CEBPB	chr2:78389426-78389688	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:78445210-78445573	HepG2	liver:	n/a	chr2:78445380-78445391
27	CEBPB	chr2:78420652-78420781	K562	blood:	n/a	n/a
28	CEBPB	chr2:78445231-78445483	H1-hESC	embryonic stem cell:	n/a	chr2:78445380-78445391
29	CEBPB	chr2:78589546-78589687	H1-hESC	embryonic stem cell:	n/a	chr2:78589637-78589648
30	CEBPB	chr2:78413713-78414071	HepG2	liver:	n/a	chr2:78413883-78413892 chr2:78413883-78413892 chr2:78413883-78413892 chr2:78413881-78413894 chr2:78413882-78413893 chr2:78413881-78413894 chr2:78413881-78413892 chr2:78413883-78413892
31	CEBPB	chr2:78369163-78369459	HepG2	liver:	n/a	chr2:78369346-78369359 chr2:78369367-78369378
32	CEBPB	chr2:78645120-78645483	MCF-7	breast:	n/a	chr2:78645291-78645302
33	CEBPB	chr2:78589467-78589821	K562	blood:	n/a	chr2:78589637-78589648
34	CEBPB	chr2:78445231-78445562	IMR90	lung:	n/a	chr2:78445380-78445391
35	CEBPB	chr2:78645132-78645485	ECC-1	luminal epithelium:	n/a	chr2:78645291-78645302
36	CEBPB	chr2:78589457-78589745	A549	lung:	n/a	chr2:78589637-78589648
37	CEBPB	chr2:78577085-78577438	A549	lung:	n/a	chr2:78577256-78577265 chr2:78577254-78577265 chr2:78577256-78577267 chr2:78577256-78577265 chr2:78577256-78577265 chr2:78577256-78577265
38	CEBPB	chr2:78518603-78518888	A549	lung:	n/a	chr2:78518707-78518718
39	CEBPB	chr2:78489042-78489325	HepG2	liver:	n/a	chr2:78489173-78489184
40	CEBPB	chr2:78642053-78642249	K562	blood:	n/a	n/a
41	CEBPB	chr2:78641606-78642279	HepG2	liver:	n/a	chr2:78641752-78641763
42	CEBPB	chr2:78359219-78359536	MCF-7	breast:	n/a	n/a
43	CEBPB	chr2:78640657-78640890	HepG2	liver:	n/a	chr2:78640779-78640790 chr2:78640781-78640790
44	CEBPB	chr2:78336457-78336742	K562	blood:	n/a	n/a
45	CEBPB	chr2:78537183-78537401	K562	blood:	n/a	n/a
46	CEBPB	chr2:78641675-78642156	A549	lung:	n/a	chr2:78641752-78641763
47	CEBPB	chr2:78336515-78336886	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr2:78570869-78570882	K562	blood:	n/a	n/a
49	CEBPB	chr2:78336473-78336839	IMR90	lung:	n/a	n/a
50	CEBPB	chr2:78445242-78445505	Hela-S3	cervix:	n/a	chr2:78445380-78445391

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:78545567-78545617	HRPEpiC	eye:	n/a
2	chr2:78545567-78545617	HRPEpiC	eye:	n/a
3	chr2:78545567-78545617	CMK	blood:	n/a
4	chr2:78545567-78545617	AG09309	skin:	n/a
5	chr2:78545567-78545617	HUVEC	blood vessel:	n/a
6	chr2:78545567-78545617	NB4	blood:	n/a
7	chr2:78545567-78545617	HMEC	breast:	n/a
8	chr2:78545567-78545617	PrEC	prostate:	n/a
9	chr2:78545567-78545617	HEEpiC	esophagus:	n/a
10	chr2:78545567-78545617	Caco-2	colon:	n/a
11	chr2:78545567-78545617	SK-N-MC	brain:	n/a
12	chr2:78545567-78545617	NHDF-neo	bronchial:	n/a
13	chr2:78545567-78545617	BJ	skin:	n/a
14	chr2:78545567-78545617	IMR90	lung:	fetal
15	chr2:78545567-78545617	HL-60	blood:	n/a
16	chr2:78545567-78545617	BE2_C	brain:	n/a
17	chr2:78545567-78545617	HEK293	kidney:	embryo
18	chr2:78545567-78545617	LNCaP	prostate:	n/a
19	chr2:78545567-78545617	HRCEpiC	kidney:	n/a
20	chr2:78545567-78545617	T-47D	breast:	n/a
21	chr2:78545567-78545617	SK-N-SH	brain:	n/a
22	chr2:78545567-78545617	HNPCEpiC	eye:	n/a
23	chr2:78545567-78545617	GM19239	blood:	n/a
24	chr2:78545567-78545617	SKMC	muscle:	n/a
25	chr2:78545567-78545617	Hepatocyte	liver:	n/a
26	chr2:78545567-78545617	SAEC	small airway:	n/a
27	chr2:78545567-78545617	PFSK-1	brain:	n/a
28	chr2:78545567-78545617	H1-hESC	embryonic stem cell:	embryo
29	chr2:78545567-78545617	AG04449	skin:	fetal
30	chr2:78545567-78545617	GM06990	blood:	n/a
31	chr2:78545567-78545617	HCF	heart:	n/a
32	chr2:78545567-78545617	GM12891	blood:	n/a
33	chr2:78545567-78545617	AoSMC	blood vessel:	n/a
34	chr2:78545567-78545617	MCF10A-Er-Src	breast:	n/a
35	chr2:78545567-78545617	Hela-S3	cervix:	n/a
36	chr2:78545567-78545617	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:78545567-78545617	HepG2	liver:	n/a
38	chr2:78545567-78545617	GM12892	blood:	n/a
39	chr2:78545567-78545617	HRE	kidney:	n/a
40	chr2:78545567-78545617	NT2-D1	testis:	n/a
41	chr2:78545567-78545617	RPTEC	kidney:	n/a
42	chr2:78545567-78545617	ProgFib	skin:	n/a
43	chr2:78545567-78545617	MCF-7	breast:	n/a
44	chr2:78545567-78545617	HIPEpiC	eye:	n/a
45	chr2:78545567-78545617	ECC-1	luminal epithelium:	n/a
46	chr2:78545567-78545617	K562	blood:	n/a
47	chr2:78545567-78545617	HCM	heart:	n/a
48	chr2:78545567-78545617	HCT-116	colon:	n/a
49	chr2:78545567-78545617	PANC-1	pancreas:	n/a
50	chr2:78545567-78545617	HCPEpiC	choroid plexus:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78552005..78554249-chr2:78556086..78558009,2	K562	blood:
2	chr2:78326493..78328202-chr2:78333273..78335963,2	K562	blood:
3	chr2:78577613..78578539-chr2:79206466..79207847,3	MCF-7	breast:
4	chr2:78519747..78522682-chr2:78785137..78786876,2	K562	blood:
5	chr2:78326493..78328202-chr2:78333273..78335963,2	K562	blood:
6	chr2:78607954..78609567-chr2:78764622..78766807,2	K562	blood:
7	chr2:78347906..78350697-chr2:78350756..78353381,2	K562	blood:
8	chr2:78658362..78658925-chr2:79089675..79090181,2	MCF-7	breast:
9	chr2:78578903..78584135-chr2:78585848..78590226,6	K562	blood:
10	chr2:78577011..78577791-chr8:96157456..96158424,2	MCF-7	breast:
11	chr2:78578454..78579130-chr2:79226516..79227199,2	MCF-7	breast:
12	chr2:78300847..78302731-chr2:78308537..78310502,2	K562	blood:
13	chr2:78538765..78541253-chr2:78550718..78553114,2	K562	blood:
14	chr2:78658404..78659062-chr2:79206498..79207224,3	MCF-7	breast:
15	chr17:59624355..59624932-chr2:78345304..78345966,2	MCF-7	breast:
16	chr2:78538765..78541253-chr2:78550718..78553114,2	K562	blood:
17	chr2:78578903..78584135-chr2:78585848..78590226,6	K562	blood:
18	chr2:78347906..78350697-chr2:78350756..78353381,2	K562	blood:
19	chr2:78552005..78554249-chr2:78556086..78558009,2	K562	blood:
20	chr2:78347733..78349406-chr2:78351881..78353903,2	K562	blood:
21	chr2:78347733..78349406-chr2:78351881..78353903,2	K562	blood:
22	chr2:78637554..78639977-chr2:78766787..78768860,2	K562	blood:
23	chr2:78578299..78578916-chr2:79206809..79207351,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78639919-78640220	NONHSAT071847
2	lnc-REG3G-3	chr2:78354625-78354877	XLOC_001543
3	lnc-REG3G-3	chr2:78339185-78339226	XLOC_001543
4	lnc-REG3G-3	chr2:78321763-78321902	XLOC_001543
5	lnc-LRRTM4-3	chr2:78517514-78517857	NR_110288
6	lnc-LRRTM4-3	chr2:78639673-78640302	NONHSAT071846
7	lnc-REG3G-3	chr2:78322790-78322968	XLOC_001543
8	lnc-REG3G-7	chr2:78664976-78666047	NONHSAT071848
9	lnc-LRRTM4-8	chr2:78371022-78371323	ucscGeneNc_uc002snu_2
10	lnc-LRRTM4-3	chr2:78637204-78640302	NONHSAT071835
11	lnc-REG3G-3	chr2:78320703-78320792	XLOC_001543

No data

Variant related genes	Relation type
CYCSP6	TF binding region
ENSG00000229494	TF binding region
ENSG00000270470	TF binding region
CYCSP6	CpG island
ENSG00000229494	CpG island
ENSG00000270470	CpG island

Extended variants
information (count: 6583 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:6583 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551436843	chr2:78309809-78309810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559799655	chr2:78309833-78309834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571550726	chr2:78309848-78309849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527612732	chr2:78309852-78309853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79857430	chr2:78309887-78309888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11680767	chr2:78309898-78309899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536309008	chr2:78309899-78309900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367933199	chr2:78309944-78309945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556376091	chr2:78310017-78310018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10192124	chr2:78310049-78310050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545396323	chr2:78310061-78310062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538641769	chr2:78310068-78310069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558564428	chr2:78310089-78310090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572374568	chr2:78310096-78310097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114254560	chr2:78310119-78310120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138213383	chr2:78310137-78310138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192505239	chr2:78310147-78310148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143876489	chr2:78310168-78310169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112756609	chr2:78310287-78310288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147248192	chr2:78310322-78310323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183892933	chr2:78310323-78310324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527549585	chr2:78310350-78310351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547680163	chr2:78310388-78310389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567720290	chr2:78310399-78310400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140664460	chr2:78310427-78310428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528972572	chr2:78310541-78310542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35449912	chr2:78310554-78310555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72921764	chr2:78310588-78310589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571935177	chr2:78310651-78310652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565415709	chr2:78310668-78310669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549753959	chr2:78310743-78310744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569801791	chr2:78310748-78310749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538766731	chr2:78310771-78310772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72921765	chr2:78310780-78310781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534957267	chr2:78310797-78310798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189391488	chr2:78310803-78310804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539082358	chr2:78310939-78310940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575069579	chr2:78311040-78311041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537635064	chr2:78311063-78311064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557460036	chr2:78311093-78311094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557298772	chr2:78311160-78311161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144946620	chr2:78311164-78311165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181353493	chr2:78311190-78311191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201088995	chr2:78311667-78311668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs535007675	chr2:78311668-78311669	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs59141538	chr2:78311697-78311698	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs79845878	chr2:78311709-78311710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs148568791	chr2:78311711-78311712	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs142910677	chr2:78311746-78311747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs546775920	chr2:78311780-78311781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78309800-78311200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:78322800-78324000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:78324000-78324200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
4	chr2:78326200-78326800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:78330200-78332400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:78330600-78331600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:78331000-78331600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:78331600-78332800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:78332800-78333600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:78335000-78337600	Enhancers	Liver	Liver
11	chr2:78336000-78336600	Active TSS	Fetal Heart	heart
12	chr2:78336200-78337200	Enhancers	HepG2	liver
13	chr2:78337200-78339000	Weak transcription	HepG2	liver
14	chr2:78339000-78339400	Strong transcription	HepG2	liver
15	chr2:78339400-78341200	Weak transcription	HepG2	liver
16	chr2:78345400-78345800	Enhancers	HSMM	muscle
17	chr2:78345600-78346200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:78346600-78346800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:78347400-78347600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:78351600-78356000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:78352800-78353000	Enhancers	Fetal Muscle Leg	muscle
22	chr2:78352800-78353000	Enhancers	Pancreas	Pancrea
23	chr2:78353000-78354600	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:78353000-78357600	Weak transcription	Pancreas	Pancrea
25	chr2:78353200-78353400	Enhancers	HSMMtube	muscle
26	chr2:78353200-78354600	Enhancers	HSMM	muscle
27	chr2:78353400-78354400	Weak transcription	HSMMtube	muscle
28	chr2:78354400-78354600	Enhancers	Brain Anterior Caudate	brain
29	chr2:78354400-78354800	Enhancers	Brain Hippocampus Middle	brain
30	chr2:78354400-78354800	Enhancers	HSMMtube	muscle
31	chr2:78354600-78355000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:78354600-78355000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:78354600-78355000	Enhancers	Brain Angular Gyrus	brain
34	chr2:78354600-78355000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr2:78354600-78355000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:78354600-78355000	Enhancers	Brain Substantia Nigra	brain
37	chr2:78354600-78355000	Enhancers	Fetal Muscle Leg	muscle
38	chr2:78354800-78355000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr2:78355000-78355400	Enhancers	Brain Hippocampus Middle	brain
40	chr2:78355000-78355800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:78355000-78359600	Weak transcription	Brain Substantia Nigra	brain
42	chr2:78355800-78356000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:78357600-78357800	Enhancers	Pancreas	Pancrea
44	chr2:78359600-78360200	Active TSS	Brain Hippocampus Middle	brain
45	chr2:78359600-78360200	Active TSS	Brain Substantia Nigra	brain
46	chr2:78360000-78360400	Active TSS	Brain Cingulate Gyrus	brain
47	chr2:78360000-78360400	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr2:78360200-78360400	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr2:78371800-78372800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:78372600-78374000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links