Variant report

Variant	nsv535390
Chromosome Location	chr1:245964829-246012247
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	chr1:245974281-245974791	HepG2	liver:	n/a	n/a
2	ATF2	chr1:245970578-245971090	GM12878	blood:	n/a	n/a
3	BATF	chr1:245970698-245971080	GM12878	blood:	n/a	n/a
4	BATF	chr1:245970166-245970477	GM12878	blood:	n/a	chr1:245970299-245970309 chr1:245970298-245970309
5	BATF	chr1:245970613-245971062	GM12878	blood:	n/a	n/a
6	BATF	chr1:245992604-245992863	GM12878	blood:	n/a	n/a
7	BCL3	chr1:245977976-245978245	GM12878	blood:	n/a	n/a
8	BCL3	chr1:245986431-245986771	GM12878	blood:	n/a	n/a
9	BCL3	chr1:245977976-245978280	GM12878	blood:	n/a	n/a
10	BCLAF1	chr1:245970574-245971083	GM12878	blood:	n/a	chr1:245970740-245970749
11	BCLAF1	chr1:245970618-245971063	GM12878	blood:	n/a	chr1:245970740-245970749
12	BHLHE40	chr1:245986393-245986667	A549	lung:	n/a	n/a
13	BHLHE40	chr1:245974284-245974638	HepG2	liver:	n/a	n/a
14	BHLHE40	chr1:245970301-245970532	K562	blood:	n/a	n/a
15	BHLHE40	chr1:245986428-245986758	HepG2	liver:	n/a	n/a
16	BHLHE40	chr1:245970679-245971204	GM12878	blood:	n/a	n/a
17	CBX3	chr1:245970180-245970545	K562	blood:	n/a	n/a
18	CEBPB	chr1:245970266-245970538	K562	blood:	n/a	n/a
19	CEBPB	chr1:245986261-245986788	ECC-1	luminal epithelium:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
20	CEBPB	chr1:246005255-246005575	HepG2	liver:	n/a	chr1:246005396-246005407
21	CEBPB	chr1:245986262-245987157	IMR90	lung:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986855-245986867 chr1:245986540-245986551 chr1:245986857-245986868 chr1:245986538-245986551
22	CEBPB	chr1:245974350-245974567	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:245986189-245986747	Hela-S3	cervix:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
24	CEBPB	chr1:245986352-245986792	A549	lung:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
25	CEBPB	chr1:245974306-245974648	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:245986352-245986718	HepG2	liver:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
27	CEBPB	chr1:246007442-246007594	IMR90	lung:	n/a	chr1:246007498-246007509
28	CEBPB	chr1:245974285-245974663	HepG2	liver:	n/a	n/a
29	CEBPB	chr1:245968485-245968683	HepG2	liver:	n/a	chr1:245968630-245968641 chr1:245968534-245968545
30	CEBPB	chr1:245986260-245986954	A549	lung:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986855-245986867 chr1:245986540-245986551 chr1:245986857-245986868 chr1:245986538-245986551
31	CEBPB	chr1:245986958-245987061	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:245986317-245986701	ECC-1	luminal epithelium:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
33	CEBPB	chr1:245970229-245970472	K562	blood:	n/a	n/a
34	CEBPB	chr1:245986442-245986595	K562	blood:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
35	CEBPB	chr1:245986344-245986737	A549	lung:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
36	CEBPB	chr1:245986202-245986790	HCT-116	colon:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
37	CEBPB	chr1:246005278-246005544	IMR90	lung:	n/a	chr1:246005396-246005407
38	CEBPB	chr1:246007397-246007575	HepG2	liver:	n/a	chr1:246007498-246007509
39	CEBPB	chr1:245986224-245986759	HCT-116	colon:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
40	CEBPB	chr1:245986465-245986593	HepG2	liver:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
41	CEBPB	chr1:245986358-245986775	MCF-7	breast:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
42	CEBPB	chr1:246005252-246005546	A549	lung:	n/a	chr1:246005396-246005407
43	CEBPZ	chr1:246003835-246003916	HepG2	liver:	n/a	n/a
44	CHD2	chr1:245986326-245986722	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr1:245970342-245971030	GM12878	blood:	n/a	n/a
46	CHD2	chr1:245973609-245974590	GM12878	blood:	n/a	n/a
47	CTCF	chr1:245988538-245988677	LNCaP	prostate:	n/a	chr1:245988600-245988621
48	CTCF	chr1:245988540-245988662	LNCaP	prostate:	n/a	chr1:245988600-245988621
49	CTCF	chr1:245988540-245988690	HPAF	blood vessel:	n/a	chr1:245988600-245988621
50	CTCF	chr1:245988600-245988750	HMEC	breast:	n/a	chr1:245988600-245988621

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:245986694-245986744	GM12892	blood:	n/a
2	chr1:245986694-245986744	AG09309	skin:	n/a
3	chr1:245986694-245986744	HCT-116	colon:	n/a
4	chr1:245986694-245986744	T-47D	breast:	n/a
5	chr1:245986694-245986744	AG09319	gingival:	n/a
6	chr1:245986694-245986744	ECC-1	luminal epithelium:	n/a
7	chr1:245986694-245986744	SK-N-SH_RA	brain:	n/a
8	chr1:245986694-245986744	SKMC	muscle:	n/a
9	chr1:245986694-245986744	HEEpiC	esophagus:	n/a
10	chr1:245986694-245986744	BJ	skin:	n/a
11	chr1:245986694-245986744	NHDF-neo	bronchial:	n/a
12	chr1:245986694-245986744	MCF10A-Er-Src	breast:	n/a
13	chr1:245986694-245986744	HAEpiC	amniotic membrane:	n/a
14	chr1:245986694-245986744	PFSK-1	brain:	n/a
15	chr1:245986694-245986744	NT2-D1	testis:	n/a
16	chr1:245986694-245986744	SK-N-SH	brain:	n/a
17	chr1:245986694-245986744	GM19239	blood:	n/a
18	chr1:245986694-245986744	LNCaP	prostate:	n/a
19	chr1:245986694-245986744	Caco-2	colon:	n/a
20	chr1:245986694-245986744	HRPEpiC	eye:	n/a
21	chr1:245986694-245986744	HCF	heart:	n/a
22	chr1:245986694-245986744	GM06990	blood:	n/a
23	chr1:245986694-245986744	PANC-1	pancreas:	n/a
24	chr1:245986694-245986744	A549	lung:	n/a
25	chr1:245986694-245986744	H1-hESC	embryonic stem cell:	embryo
26	chr1:245986694-245986744	AG10803	skin:	n/a
27	chr1:245986694-245986744	Jurkat	blood:	n/a
28	chr1:245986694-245986744	HL-60	blood:	n/a
29	chr1:245986694-245986744	HEK293	kidney:	embryo
30	chr1:245986694-245986744	RPTEC	kidney:	n/a
31	chr1:245986694-245986744	AoSMC	blood vessel:	n/a
32	chr1:245986694-245986744	HRE	kidney:	n/a
33	chr1:245986694-245986744	GM12878	blood:	n/a
34	chr1:245986694-245986744	HCPEpiC	choroid plexus:	n/a
35	chr1:245986694-245986744	Hepatocyte	liver:	n/a
36	chr1:245986694-245986744	SAEC	small airway:	n/a
37	chr1:245986694-245986744	CMK	blood:	n/a
38	chr1:245986694-245986744	AG04450	lung:	fetal
39	chr1:245986694-245986744	AG04449	skin:	fetal
40	chr1:245986694-245986744	BE2_C	brain:	n/a
41	chr1:245986694-245986744	U87	brain:	n/a
42	chr1:245986694-245986744	MCF-7	breast:	n/a
43	chr1:245986694-245986744	PrEC	prostate:	n/a
44	chr1:245986694-245986744	Hela-S3	cervix:	n/a
45	chr1:245986694-245986744	HUVEC	blood vessel:	n/a
46	chr1:245986694-245986744	IMR90	lung:	fetal
47	chr1:245986694-245986744	SK-N-MC	brain:	n/a
48	chr1:245986694-245986744	GM12891	blood:	n/a
49	chr1:245986694-245986744	NB4	blood:	n/a
50	chr1:245986694-245986744	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:245988107..245989157-chr1:246166116..246167095,4	MCF-7	breast:
2	chr1:245978284..245980210-chr1:245986167..245988754,2	K562	blood:
3	chr1:246004939..246007582-chr1:246008449..246010264,2	K562	blood:
4	chr1:246010644..246013131-chr1:246014185..246016715,2	K562	blood:
5	chr1:246004939..246007582-chr1:246008449..246010264,2	K562	blood:
6	chr1:246009761..246012362-chr1:246018454..246021250,2	MCF-7	breast:
7	chr1:246004025..246006674-chr1:246026244..246028356,2	K562	blood:
8	chr1:246009381..246012299-chr1:246014138..246015859,2	MCF-7	breast:
9	chr1:245978284..245980210-chr1:245986167..245988754,2	K562	blood:
10	chr1:245965294..245968068-chr1:245973609..245975680,2	K562	blood:
11	chr1:245961566..245963141-chr1:245966435..245969195,2	K562	blood:
12	chr1:246000997..246002904-chr1:246031374..246033364,2	K562	blood:
13	chr1:245967776..245970325-chr1:245971274..245973112,2	K562	blood:
14	chr1:245990424..245993130-chr1:245997330..245999574,3	K562	blood:
15	chr1:245965294..245968068-chr1:245973609..245975680,2	K562	blood:
16	chr1:245992708..245995322-chr1:245995815..245998261,2	MCF-7	breast:
17	chr1:246000797..246002890-chr1:246020641..246022922,2	K562	blood:
18	chr1:245967776..245970325-chr1:245971274..245973112,2	K562	blood:
19	chr1:245999406..246001489-chr1:246004038..246006182,2	K562	blood:
20	chr1:246011854..246014618-chr1:246024554..246026725,2	K562	blood:
21	chr1:245988915..245992283-chr1:245996613..246000747,4	K562	blood:
22	chr1:245992708..245995322-chr1:245995815..245998261,2	MCF-7	breast:
23	chr1:245988915..245992283-chr1:245996613..246000747,4	K562	blood:
24	chr1:245958486..245963819-chr1:245964384..245971753,7	K562	blood:
25	chr1:245988141..245989007-chr1:246166156..246166781,3	MCF-7	breast:
26	chr1:245990424..245993130-chr1:245997330..245999574,3	K562	blood:
27	chr1:245999406..246001489-chr1:246004038..246006182,2	K562	blood:

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

Extended variants
information (count: 2196 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2196 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148817871	chr1:245964982-245964983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201054589	chr1:245965027-245965028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549292932	chr1:245965028-245965029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567235129	chr1:245965029-245965030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56055706	chr1:245965040-245965041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560375352	chr1:245965041-245965042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201418509	chr1:245965043-245965044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533926437	chr1:245965058-245965059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575896906	chr1:245965084-245965085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12404746	chr1:245965136-245965137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2791397	chr1:245965170-245965171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs112671962	chr1:245965217-245965218	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111589500	chr1:245965218-245965219	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546668998	chr1:245965219-245965220	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527297334	chr1:245965227-245965228	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76371141	chr1:245965252-245965253	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143463239	chr1:245965275-245965276	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146514398	chr1:245965305-245965306	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187929989	chr1:245965384-245965385	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371992931	chr1:245965410-245965411	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569490202	chr1:245965427-245965428	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375066174	chr1:245965440-245965441	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555745988	chr1:245965485-245965486	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532005660	chr1:245965517-245965518	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35939543	chr1:245965520-245965521	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2791398	chr1:245965551-245965552	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76852369	chr1:245965603-245965604	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533935142	chr1:245965604-245965605	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113925415	chr1:245965612-245965613	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570594739	chr1:245965630-245965631	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34997699	chr1:245965640-245965641	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539559614	chr1:245965660-245965661	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555911630	chr1:245965673-245965674	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576159200	chr1:245965679-245965680	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190455065	chr1:245965696-245965697	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377430578	chr1:245965794-245965795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12083153	chr1:245965810-245965811	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542563316	chr1:245965845-245965846	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35580182	chr1:245965860-245965861	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs540648634	chr1:245965872-245965873	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564105264	chr1:245965890-245965891	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549219509	chr1:245965900-245965901	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543566400	chr1:245966063-245966064	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563027743	chr1:245966069-245966070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531824524	chr1:245966099-245966100	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548807727	chr1:245966100-245966101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183105224	chr1:245966101-245966102	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528020632	chr1:245966112-245966113	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138643640	chr1:245966122-245966123	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187843040	chr1:245966135-245966136	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	21858162	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
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245932000-245966200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:245949200-245999600	Weak transcription	Gastric	stomach
3	chr1:245952000-245970400	Weak transcription	Aorta	Aorta
4	chr1:245955200-245970800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:245957000-245970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:245960400-245965200	Weak transcription	K562	blood
7	chr1:245961400-245965000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:245961400-245968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:245961800-245980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:245962000-245972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:245962600-245970400	Weak transcription	HepG2	liver
12	chr1:245963400-245970400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:245964600-245965000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:245964600-245968400	Enhancers	Placenta	Placenta
15	chr1:245964600-245971200	Weak transcription	Fetal Heart	heart
16	chr1:245964800-245965600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:245964800-245970400	Weak transcription	NH-A	brain
18	chr1:245964800-245973800	Weak transcription	Fetal Stomach	stomach
19	chr1:245965000-245965400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:245965200-245966800	Strong transcription	K562	blood
21	chr1:245965200-245967400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:245965400-245965600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:245965600-245967000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:245965600-245968000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:245966000-245966800	Enhancers	HSMM	muscle
26	chr1:245966800-245970400	Weak transcription	K562	blood
27	chr1:245968000-245968200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:245968000-245968400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:245968000-245970400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:245968200-245972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:245968400-245975200	Weak transcription	Placenta	Placenta
32	chr1:245968400-245985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:245968600-245969600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr1:245968800-245969000	Enhancers	Fetal Brain Female	brain
35	chr1:245969600-245970400	Enhancers	GM12878-XiMat	blood
36	chr1:245969600-245974000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:245969600-245975800	Enhancers	Primary B cells from peripheral blood	blood
38	chr1:245969800-245970600	Enhancers	Colonic Mucosa	Colon
39	chr1:245969800-245970600	Weak transcription	Fetal Brain Female	brain
40	chr1:245969800-245972600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:245970200-245970800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:245970200-245970800	Enhancers	NHDF-Ad	bronchial
43	chr1:245970200-245972000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:245970200-245974200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:245970200-245974400	Enhancers	Primary B cells from cord blood	blood
46	chr1:245970400-245970600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:245970400-245970600	ZNF genes & repeats	Aorta	Aorta
48	chr1:245970400-245970600	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:245970400-245970600	Enhancers	Fetal Muscle Trunk	muscle
50	chr1:245970400-245970600	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links