Variant report

Variant	nsv1015039
Chromosome Location	chr1:246608164-246666101
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	ARID3A	chr1:246660581-246660971	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:246614088-246614383	HepG2	liver:	n/a	chr1:246614110-246614126
3	ARID3A	chr1:246614048-246614417	K562	blood:	n/a	chr1:246614110-246614126
4	ARID3A	chr1:246660564-246660991	K562	blood:	n/a	n/a
5	BATF	chr1:246648136-246648477	GM12878	blood:	n/a	n/a
6	BATF	chr1:246647202-246648395	GM12878	blood:	n/a	n/a
7	BCL11A	chr1:246647613-246648442	GM12878	blood:	n/a	n/a
8	BCLAF1	chr1:246660540-246660998	GM12878	blood:	n/a	n/a
9	BHLHE40	chr1:246660694-246660769	K562	blood:	n/a	n/a
10	BRCA1	chr1:246622436-246622858	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr1:246611654-246611998	K562	blood:	n/a	n/a
12	CEBPB	chr1:246624828-246625147	IMR90	lung:	n/a	chr1:246624986-246624997
13	CEBPB	chr1:246633927-246634250	A549	lung:	n/a	chr1:246634078-246634089
14	CEBPB	chr1:246614170-246614380	A549	lung:	n/a	n/a
15	CEBPB	chr1:246633906-246634251	HepG2	liver:	n/a	chr1:246634078-246634089
16	CEBPB	chr1:246624890-246625084	HepG2	liver:	n/a	chr1:246624986-246624997
17	CEBPB	chr1:246624876-246625076	K562	blood:	n/a	chr1:246624986-246624997
18	CEBPB	chr1:246633921-246634267	IMR90	lung:	n/a	chr1:246634078-246634089
19	CEBPB	chr1:246614101-246614437	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:246633988-246634252	Hela-S3	cervix:	n/a	chr1:246634078-246634089
21	CEBPB	chr1:246624833-246625067	HepG2	liver:	n/a	chr1:246624986-246624997
22	CEBPB	chr1:246633942-246634262	K562	blood:	n/a	chr1:246634078-246634089
23	CEBPD	chr1:246624911-246625055	HepG2	liver:	n/a	n/a
24	CHD2	chr1:246622339-246622901	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr1:246622531-246622783	K562	blood:	n/a	n/a
26	CTCF	chr1:246614160-246614310	HMF	breast:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
27	CTCF	chr1:246656060-246656210	GM06990	blood:	n/a	chr1:246656117-246656135 chr1:246656119-246656132 chr1:246656112-246656133
28	CTCF	chr1:246660760-246660910	GM12874	blood:	n/a	chr1:246660793-246660809 chr1:246660792-246660810 chr1:246660795-246660808 chr1:246660795-246660804
29	CTCF	chr1:246660487-246660507	K562	blood:	n/a	n/a
30	CTCF	chr1:246656008-246656255	ProgFib	skin:	n/a	chr1:246656117-246656135 chr1:246656119-246656132 chr1:246656112-246656133
31	CTCF	chr1:246660680-246660830	HBMEC	blood vessel:	n/a	chr1:246660793-246660809 chr1:246660792-246660810 chr1:246660795-246660808 chr1:246660795-246660804
32	CTCF	chr1:246645480-246645630	GM12873	blood:	n/a	n/a
33	CTCF	chr1:246660680-246660830	HEK293	kidney:	n/a	chr1:246660793-246660809 chr1:246660792-246660810 chr1:246660795-246660808 chr1:246660795-246660804
34	CTCF	chr1:246614120-246614270	GM12801	blood:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
35	CTCF	chr1:246614120-246614270	NHLF	lung:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
36	CTCF	chr1:246660553-246660946	A549	lung:	n/a	chr1:246660793-246660809 chr1:246660792-246660810 chr1:246660795-246660808 chr1:246660795-246660804
37	CTCF	chr1:246660720-246660870	HBMEC	blood vessel:	n/a	chr1:246660793-246660809 chr1:246660792-246660810 chr1:246660795-246660808 chr1:246660795-246660804
38	CTCF	chr1:246614140-246614290	AG09309	skin:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
39	CTCF	chr1:246614220-246614370	GM12868	blood:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
40	CTCF	chr1:246614180-246614330	Caco-2	colon:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
41	CTCF	chr1:246614058-246614459	HCT-116	colon:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
42	CTCF	chr1:246656040-246656190	AG04449	skin:	n/a	chr1:246656117-246656135 chr1:246656119-246656132 chr1:246656112-246656133
43	CTCF	chr1:246656080-246656230	GM12872	blood:	n/a	chr1:246656117-246656135 chr1:246656119-246656132 chr1:246656112-246656133
44	CTCF	chr1:246656340-246656490	GM12868	blood:	n/a	n/a
45	CTCF	chr1:246656020-246656170	GM06990	blood:	n/a	chr1:246656117-246656135 chr1:246656119-246656132 chr1:246656112-246656133
46	CTCF	chr1:246656060-246656210	HVMF	connective:	n/a	chr1:246656117-246656135 chr1:246656119-246656132 chr1:246656112-246656133
47	CTCF	chr1:246614039-246614427	ECC-1	luminal epithelium:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
48	CTCF	chr1:246660760-246660910	GM12868	blood:	n/a	chr1:246660793-246660809 chr1:246660792-246660810 chr1:246660795-246660808 chr1:246660795-246660804
49	CTCF	chr1:246614079-246614427	SK-N-SH_RA	brain:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
50	CTCF	chr1:246660690-246660885	GM13976	blood:	n/a	chr1:246660793-246660809 chr1:246660792-246660810 chr1:246660795-246660808 chr1:246660795-246660804

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246622633-246622683	AG09309	skin:	n/a
2	chr1:246622633-246622683	AG09309	skin:	n/a
3	chr1:246622662-246622712	Caco-2	colon:	n/a
4	chr1:246646424-246646474	BE2_C	brain:	n/a
5	chr1:246622662-246622712	AG09309	skin:	n/a
6	chr1:246646424-246646474	CMK	blood:	n/a
7	chr1:246613311-246613361	HL-60	blood:	n/a
8	chr1:246622633-246622683	AG09319	gingival:	n/a
9	chr1:246613311-246613361	HIPEpiC	eye:	n/a
10	chr1:246613311-246613361	T-47D	breast:	n/a
11	chr1:246664003-246664053	PANC-1	pancreas:	n/a
12	chr1:246664003-246664053	SK-N-MC	brain:	n/a
13	chr1:246646424-246646474	GM19239	blood:	n/a
14	chr1:246622662-246622712	MCF-7	breast:	n/a
15	chr1:246613311-246613361	HCF	heart:	n/a
16	chr1:246622662-246622712	ECC-1	luminal epithelium:	n/a
17	chr1:246613311-246613361	K562	blood:	n/a
18	chr1:246622483-246622533	HRCEpiC	kidney:	n/a
19	chr1:246622633-246622683	AG04450	lung:	fetal
20	chr1:246622662-246622712	HAEpiC	amniotic membrane:	n/a
21	chr1:246664003-246664053	BE2_C	brain:	n/a
22	chr1:246613311-246613361	RPTEC	kidney:	n/a
23	chr1:246622483-246622533	SK-N-MC	brain:	n/a
24	chr1:246622483-246622533	H1-hESC	embryonic stem cell:	embryo
25	chr1:246613311-246613361	PANC-1	pancreas:	n/a
26	chr1:246622633-246622683	U87	brain:	n/a
27	chr1:246646424-246646474	HAEpiC	amniotic membrane:	n/a
28	chr1:246613311-246613361	HCM	heart:	n/a
29	chr1:246646424-246646474	PFSK-1	brain:	n/a
30	chr1:246613311-246613361	HUVEC	blood vessel:	n/a
31	chr1:246622662-246622712	HMEC	breast:	n/a
32	chr1:246613311-246613361	HPAEpiC	pulmonary alveolar:	n/a
33	chr1:246664003-246664053	U87	brain:	n/a
34	chr1:246622662-246622712	AoSMC	blood vessel:	n/a
35	chr1:246622633-246622683	HL-60	blood:	n/a
36	chr1:246646424-246646474	K562	blood:	n/a
37	chr1:246646424-246646474	SK-N-SH	brain:	n/a
38	chr1:246613311-246613361	SK-N-SH_RA	brain:	n/a
39	chr1:246622662-246622712	HRE	kidney:	n/a
40	chr1:246622483-246622533	T-47D	breast:	n/a
41	chr1:246613311-246613361	ProgFib	skin:	n/a
42	chr1:246613311-246613361	GM12891	blood:	n/a
43	chr1:246622662-246622712	A549	lung:	n/a
44	chr1:246622633-246622683	Hela-S3	cervix:	n/a
45	chr1:246622483-246622533	ECC-1	luminal epithelium:	n/a
46	chr1:246646424-246646474	HNPCEpiC	eye:	n/a
47	chr1:246613311-246613361	PrEC	prostate:	n/a
48	chr1:246646424-246646474	AG04449	skin:	fetal
49	chr1:246664003-246664053	NH-A	brain:	n/a
50	chr1:246622633-246622683	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:246660387..246663593-chr1:246664027..246666681,4	MCF-7	breast:
2	chr1:246658777..246661380-chr1:246664894..246666631,2	K562	blood:
3	chr1:246175508..246176198-chr1:246613763..246614605,2	K562	blood:
4	chr1:246662131..246665867-chr1:246667354..246670519,3	K562	blood:
5	chr1:246661655..246664160-chr1:246664640..246667505,3	K562	blood:
6	chr1:246660669..246662784-chr1:246700415..246702206,2	MCF-7	breast:
7	chr1:246175654..246176170-chr1:246655570..246656125,2	K562	blood:
8	chr1:246660290..246661312-chr1:246861799..246863185,8	K562	blood:
9	chr1:245319905..245320442-chr1:246655652..246656156,2	K562	blood:
10	chr1:246618350..246620200-chr1:246622120..246624573,2	K562	blood:
11	chr1:246643346..246644875-chr1:246651223..246652948,2	K562	blood:
12	chr1:246643346..246644875-chr1:246651223..246652948,2	K562	blood:
13	chr1:246664090..246667600-chr1:246667950..246670801,5	K562	blood:
14	chr1:246665304..246668329-chr1:246668572..246671618,5	MCF-7	breast:
15	chr1:246280440..246281134-chr1:246613800..246614445,2	MCF-7	breast:
16	chr1:246174027..246176471-chr1:246609850..246611898,2	K562	blood:
17	chr1:246660382..246660965-chr1:246695565..246696089,2	MCF-7	breast:
18	chr1:246658777..246661380-chr1:246664894..246666631,2	K562	blood:
19	chr1:246601270..246602898-chr1:246608886..246610495,2	K562	blood:
20	chr1:246660152..246661220-chr1:246692463..246693268,3	MCF-7	breast:
21	chr1:246660548..246661305-chr1:246859828..246860357,2	K562	blood:
22	chr1:246660387..246663593-chr1:246664027..246666681,4	MCF-7	breast:
23	chr1:246635326..246636965-chr1:246661670..246663284,2	K562	blood:
24	chr1:246601398..246602968-chr1:246608645..246610386,2	K562	blood:
25	chr1:246600615..246602867-chr1:246611265..246613184,2	K562	blood:
26	chr1:246660320..246661257-chr1:246916886..246917830,4	K562	blood:
27	chr1:246618350..246620200-chr1:246622120..246624573,2	K562	blood:
28	chr1:246606314..246608137-chr1:246622294..246625192,2	K562	blood:
29	chr1:246635326..246636965-chr1:246661670..246663284,2	K562	blood:
30	chr1:246661655..246664160-chr1:246664640..246667505,3	K562	blood:
31	chr1:246175245..246176233-chr1:246613342..246615151,4	MCF-7	breast:
32	chr1:246665883..246667427-chr1:246669091..246670880,2	K562	blood:

Variant related genes	Relation type
SMYD3	TF binding region
SMYD3	CpG island
ENSG00000185420	chromatin interactions

Extended variants
information (count: 2365 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2365 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141881242	chr1:246608168-246608169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112499206	chr1:246608180-246608181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78109312	chr1:246608250-246608251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201332698	chr1:246608262-246608263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539007781	chr1:246608278-246608279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192307394	chr1:246608313-246608314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35548055	chr1:246608335-246608336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536921277	chr1:246608338-246608339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552975859	chr1:246608362-246608363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572883758	chr1:246608364-246608365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183438492	chr1:246608416-246608417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564779826	chr1:246608442-246608443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201294502	chr1:246608544-246608545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368522502	chr1:246608546-246608547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138797176	chr1:246608602-246608603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61839799	chr1:246608605-246608606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561105127	chr1:246608626-246608627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574665503	chr1:246608634-246608635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540511433	chr1:246608678-246608679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560226089	chr1:246608715-246608716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532136964	chr1:246608721-246608722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374449865	chr1:246608780-246608781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187327287	chr1:246608792-246608793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116004555	chr1:246608800-246608801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1933132	chr1:246608812-246608813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192226244	chr1:246608869-246608870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142248598	chr1:246608881-246608882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536576296	chr1:246608922-246608923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546878204	chr1:246608948-246608949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184650369	chr1:246608961-246608962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146381677	chr1:246608969-246608970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188134061	chr1:246608992-246608993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536899979	chr1:246609059-246609060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555212137	chr1:246609091-246609092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538309335	chr1:246609147-246609148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541828569	chr1:246609157-246609158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375001220	chr1:246609158-246609159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs57588151	chr1:246609167-246609168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74151971	chr1:246609168-246609169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528831393	chr1:246609176-246609177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574561053	chr1:246609178-246609179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34654953	chr1:246609231-246609232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1890162	chr1:246609356-246609357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139752698	chr1:246609381-246609382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75672943	chr1:246609423-246609424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540378066	chr1:246609425-246609426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564973244	chr1:246609442-246609443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576801040	chr1:246609515-246609516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556658284	chr1:246609518-246609519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114719919	chr1:246609525-246609526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	19805367	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246581000-246608200	Weak transcription	Aorta	Aorta
2	chr1:246597400-246614200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:246599400-246610800	Weak transcription	Osteobl	bone
4	chr1:246600200-246613800	Weak transcription	HSMM	muscle
5	chr1:246602000-246622800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:246606400-246609600	Enhancers	Fetal Heart	heart
7	chr1:246607400-246611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:246607800-246609000	Enhancers	K562	blood
9	chr1:246608200-246608400	Enhancers	Aorta	Aorta
10	chr1:246608200-246609600	Enhancers	Fetal Kidney	kidney
11	chr1:246608600-246609400	Enhancers	HSMMtube	muscle
12	chr1:246609400-246613800	Weak transcription	HSMMtube	muscle
13	chr1:246609600-246613600	Weak transcription	Fetal Kidney	kidney
14	chr1:246609600-246621200	Weak transcription	Fetal Heart	heart
15	chr1:246610400-246611200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:246610400-246611400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:246610800-246611000	Enhancers	Small Intestine	intestine
18	chr1:246610800-246611200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:246610800-246611200	Enhancers	Osteobl	bone
20	chr1:246610800-246611400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:246610800-246611400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:246610800-246611400	Enhancers	NHDF-Ad	bronchial
23	chr1:246611200-246611600	Enhancers	Esophagus	oesophagus
24	chr1:246611200-246614000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:246611200-246625000	Weak transcription	Osteobl	bone
26	chr1:246611400-246611600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:246611400-246613600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:246611600-246612200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:246611600-246612200	Enhancers	HMEC	breast
30	chr1:246611600-246612600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:246611800-246612200	Enhancers	NHEK	skin
32	chr1:246612200-246612400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:246612200-246614200	Weak transcription	HMEC	breast
34	chr1:246612600-246613200	Weak transcription	Small Intestine	intestine
35	chr1:246613000-246614400	Weak transcription	Psoas Muscle	Psoas
36	chr1:246613600-246613800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:246613600-246614000	Active TSS	Fetal Kidney	kidney
38	chr1:246613600-246614600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:246613800-246614200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr1:246613800-246614600	Enhancers	A549	lung
41	chr1:246613800-246614600	Enhancers	HSMM	muscle
42	chr1:246613800-246615000	Enhancers	HSMMtube	muscle
43	chr1:246614000-246614600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:246614000-246625600	Weak transcription	Fetal Kidney	kidney
45	chr1:246614200-246614600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:246614200-246614600	Enhancers	Fetal Brain Male	brain
47	chr1:246614200-246614800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:246614400-246614600	Enhancers	Psoas Muscle	Psoas
49	chr1:246614400-246614600	Enhancers	HMEC	breast
50	chr1:246614600-246616400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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