Variant report

Variant	nsv873414
Chromosome Location	chr1:246415407-246495633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:904)
CpG islands
(count:489)
Chromatin interactive
region (count:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:246472537-246472962	K562	blood:	n/a	n/a
2	ARID3A	chr1:246444896-246445377	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:246476713-246476913	K562	blood:	n/a	n/a
4	ARID3A	chr1:246468839-246469426	K562	blood:	n/a	n/a
5	ARID3A	chr1:246469874-246470465	K562	blood:	n/a	n/a
6	ARID3A	chr1:246495436-246495765	K562	blood:	n/a	n/a
7	ARID3A	chr1:246443886-246444158	K562	blood:	n/a	n/a
8	ATF1	chr1:246469981-246470295	K562	blood:	n/a	n/a
9	ATF1	chr1:246495450-246495686	K562	blood:	n/a	n/a
10	ATF1	chr1:246445017-246445192	K562	blood:	n/a	n/a
11	ATF2	chr1:246493100-246493631	GM12878	blood:	n/a	n/a
12	ATF2	chr1:246492949-246493723	GM12878	blood:	n/a	n/a
13	BACH1	chr1:246469042-246469374	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr1:246469627-246470581	K562	blood:	n/a	n/a
15	BACH1	chr1:246469053-246469366	K562	blood:	n/a	n/a
16	BACH1	chr1:246469926-246470676	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:246426231-246426459	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr1:246493105-246493597	GM12878	blood:	n/a	chr1:246493346-246493357
19	BATF	chr1:246493051-246493632	GM12878	blood:	n/a	chr1:246493346-246493357
20	BCL11A	chr1:246493003-246493636	GM12878	blood:	n/a	chr1:246493592-246493599 chr1:246493349-246493358
21	BCL11A	chr1:246493088-246493638	GM12878	blood:	n/a	chr1:246493592-246493599 chr1:246493349-246493358
22	BCL3	chr1:246474759-246475054	GM12878	blood:	n/a	n/a
23	BCL3	chr1:246493055-246493585	GM12878	blood:	n/a	chr1:246493349-246493358
24	BCLAF1	chr1:246493000-246493668	GM12878	blood:	n/a	chr1:246493592-246493599 chr1:246493349-246493358
25	BCLAF1	chr1:246493053-246493656	GM12878	blood:	n/a	chr1:246493592-246493599 chr1:246493349-246493358
26	BHLHE40	chr1:246493081-246493626	GM12878	blood:	n/a	n/a
27	BHLHE40	chr1:246495569-246495766	K562	blood:	n/a	n/a
28	BHLHE40	chr1:246469899-246470287	K562	blood:	n/a	n/a
29	CBX3	chr1:246469114-246469749	K562	blood:	n/a	chr1:246469383-246469394
30	CBX3	chr1:246421618-246421974	HCT-116	colon:	n/a	n/a
31	CBX3	chr1:246469834-246470418	K562	blood:	n/a	n/a
32	CBX3	chr1:246421526-246421879	K562	blood:	n/a	n/a
33	CCNT2	chr1:246472666-246473033	K562	blood:	n/a	n/a
34	CCNT2	chr1:246470003-246470249	K562	blood:	n/a	n/a
35	CCNT2	chr1:246495455-246495669	K562	blood:	n/a	n/a
36	CEBPB	chr1:246425341-246425511	K562	blood:	n/a	chr1:246425394-246425407
37	CEBPB	chr1:246487659-246487768	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr1:246469971-246470259	K562	blood:	n/a	n/a
39	CEBPB	chr1:246488055-246488337	A549	lung:	n/a	n/a
40	CEBPB	chr1:246464871-246465238	A549	lung:	n/a	chr1:246465056-246465067
41	CEBPB	chr1:246483598-246483908	K562	blood:	n/a	chr1:246483758-246483769 chr1:246483760-246483769
42	CEBPB	chr1:246483583-246483947	IMR90	lung:	n/a	chr1:246483758-246483769 chr1:246483760-246483769
43	CEBPB	chr1:246483696-246483900	HepG2	liver:	n/a	chr1:246483758-246483769 chr1:246483760-246483769
44	CEBPB	chr1:246464896-246465226	HepG2	liver:	n/a	chr1:246465056-246465067
45	CEBPB	chr1:246422372-246422686	K562	blood:	n/a	chr1:246422547-246422558
46	CEBPB	chr1:246434856-246435125	IMR90	lung:	n/a	n/a
47	CEBPB	chr1:246495527-246495684	K562	blood:	n/a	n/a
48	CEBPB	chr1:246425272-246425522	IMR90	lung:	n/a	chr1:246425394-246425407
49	CEBPB	chr1:246432850-246433022	K562	blood:	n/a	n/a
50	CEBPB	chr1:246490440-246490704	MCF-7	breast:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246451744-246451794	U87	brain:	n/a
2	chr1:246451744-246451794	U87	brain:	n/a
3	chr1:246446300-246446350	ProgFib	skin:	n/a
4	chr1:246446300-246446350	Hepatocyte	liver:	n/a
5	chr1:246466280-246466330	Caco-2	colon:	n/a
6	chr1:246457244-246457294	PrEC	prostate:	n/a
7	chr1:246415568-246415618	MCF-7	breast:	n/a
8	chr1:246451744-246451794	HCPEpiC	choroid plexus:	n/a
9	chr1:246429789-246429839	AG09319	gingival:	n/a
10	chr1:246457244-246457294	ovcar-3	ovarian:	n/a
11	chr1:246429789-246429839	AG09309	skin:	n/a
12	chr1:246429789-246429839	HEK293	kidney:	embryo
13	chr1:246415555-246415605	HMEC	breast:	n/a
14	chr1:246466280-246466330	ProgFib	skin:	n/a
15	chr1:246466280-246466330	Jurkat	blood:	n/a
16	chr1:246416688-246416738	HCM	heart:	n/a
17	chr1:246446300-246446350	SAEC	small airway:	n/a
18	chr1:246451744-246451794	Jurkat	blood:	n/a
19	chr1:246466280-246466330	SAEC	small airway:	n/a
20	chr1:246429789-246429839	Hepatocyte	liver:	n/a
21	chr1:246446300-246446350	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:246466280-246466330	HL-60	blood:	n/a
23	chr1:246416688-246416738	SK-N-MC	brain:	n/a
24	chr1:246429789-246429839	H1-hESC	embryonic stem cell:	embryo
25	chr1:246457244-246457294	ECC-1	luminal epithelium:	n/a
26	chr1:246415568-246415618	BJ	skin:	n/a
27	chr1:246466280-246466330	MCF10A-Er-Src	breast:	n/a
28	chr1:246415568-246415618	HEK293	kidney:	embryo
29	chr1:246451744-246451794	AG09309	skin:	n/a
30	chr1:246415568-246415618	HCT-116	colon:	n/a
31	chr1:246451744-246451794	RPTEC	kidney:	n/a
32	chr1:246416688-246416738	T-47D	breast:	n/a
33	chr1:246415555-246415605	SK-N-SH_RA	brain:	n/a
34	chr1:246446300-246446350	GM06990	blood:	n/a
35	chr1:246429789-246429839	U87	brain:	n/a
36	chr1:246457244-246457294	MCF10A-Er-Src	breast:	n/a
37	chr1:246416688-246416738	NH-A	brain:	n/a
38	chr1:246429789-246429839	NHDF-neo	bronchial:	n/a
39	chr1:246415555-246415605	HCT-116	colon:	n/a
40	chr1:246451744-246451794	SK-N-MC	brain:	n/a
41	chr1:246429789-246429839	HepG2	liver:	n/a
42	chr1:246416688-246416738	GM12878	blood:	n/a
43	chr1:246415555-246415605	HL-60	blood:	n/a
44	chr1:246466280-246466330	HEK293	kidney:	embryo
45	chr1:246451744-246451794	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:246429789-246429839	RPTEC	kidney:	n/a
47	chr1:246415568-246415618	NHDF-neo	bronchial:	n/a
48	chr1:246451744-246451794	HMEC	breast:	n/a
49	chr1:246446300-246446350	HEEpiC	esophagus:	n/a
50	chr1:246457244-246457294	BE2_C	brain:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246477291..246479573-chr1:246484385..246486637,2	K562	blood:
2	chr1:246151420..246154131-chr1:246468233..246469966,2	K562	blood:
3	chr1:246175270..246176065-chr1:246443608..246444506,2	MCF-7	breast:
4	chr1:246175314..246176186-chr1:246443613..246444388,3	K562	blood:
5	chr1:246480625..246484494-chr1:246484509..246487913,3	K562	blood:
6	chr1:246451778..246454398-chr1:246470226..246471898,2	K562	blood:
7	chr1:246482242..246483844-chr1:246486769..246488361,2	MCF-7	breast:
8	chr1:246489256..246490981-chr1:246569694..246571729,2	K562	blood:
9	chr1:246446720..246449077-chr1:246451672..246454637,2	K562	blood:
10	chr1:246452108..246454615-chr1:246458116..246460010,2	K562	blood:
11	chr1:246446720..246449077-chr1:246451672..246454637,2	K562	blood:
12	chr1:246452108..246454615-chr1:246458116..246460010,2	K562	blood:
13	chr1:246356773..246358540-chr1:246441873..246443730,2	K562	blood:
14	chr1:246470110..246471825-chr1:246585890..246587442,2	K562	blood:
15	chr1:246458189..246460474-chr1:246462017..246465759,3	K562	blood:
16	chr1:246478448..246480701-chr1:246489976..246492079,2	MCF-7	breast:
17	chr1:246482242..246483844-chr1:246486769..246488361,2	MCF-7	breast:
18	chr1:246464800..246467604-chr1:246470299..246472286,2	MCF-7	breast:
19	chr1:246444872..246446533-chr1:246597803..246600502,2	MCF-7	breast:
20	chr1:246478448..246480701-chr1:246489976..246492079,2	MCF-7	breast:
21	chr1:246482654..246484211-chr1:246484942..246487391,2	MCF-7	breast:
22	chr1:246463275..246466123-chr1:246471236..246474164,2	MCF-7	breast:
23	chr1:246451778..246454398-chr1:246470226..246471898,2	K562	blood:
24	chr1:246464800..246467604-chr1:246470299..246472286,2	MCF-7	breast:
25	chr1:246432947..246435481-chr1:246440603..246442462,2	MCF-7	breast:
26	chr1:246471340..246473899-chr1:246474297..246475919,2	K562	blood:
27	chr1:246185726..246188370-chr1:246444618..246447428,2	K562	blood:
28	chr1:246458189..246460474-chr1:246462017..246465759,3	K562	blood:
29	chr1:246432947..246435481-chr1:246440603..246442462,2	MCF-7	breast:
30	chr1:246463275..246466123-chr1:246471236..246474164,2	MCF-7	breast:
31	chr1:246471340..246473899-chr1:246474297..246475919,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TFB2M-2	chr1:246485586-246485740	ENSG00000230184.1
2	lnc-TFB2M-2	chr1:246484965-246485170	ENSG00000230184.1

No data

Variant related genes	Relation type
SMYD3	TF binding region
SMYD3-IT1	TF binding region
SMYD3	CpG island
SMYD3-IT1	CpG island
ENSG00000185420	chromatin interactions
ENSG00000230184	chromatin interactions

Extended variants
information (count: 3268 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:3268 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111069935	chr1:246415407-246415408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10924627	chr1:246415409-246415410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544269332	chr1:246415422-246415423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10924628	chr1:246415440-246415441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10924629	chr1:246415461-246415462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10924630	chr1:246415471-246415472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58792454	chr1:246415492-246415493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111786520	chr1:246415501-246415502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10924631	chr1:246415502-246415503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2486849	chr1:246415523-246415524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1770026	chr1:246415533-246415534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540700409	chr1:246415555-246415556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12403942	chr1:246415564-246415565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560402708	chr1:246415568-246415569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1618213	chr1:246415587-246415588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1770027	chr1:246415588-246415589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569050417	chr1:246415597-246415598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531372682	chr1:246415615-246415616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111908137	chr1:246415617-246415618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6675598	chr1:246415652-246415653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184839508	chr1:246415681-246415682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188918560	chr1:246415728-246415729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553411386	chr1:246415748-246415749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557535581	chr1:246415803-246415804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571330563	chr1:246415837-246415838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181882138	chr1:246415839-246415840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141544291	chr1:246415842-246415843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551699458	chr1:246415853-246415854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559242014	chr1:246415854-246415855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2489738	chr1:246415868-246415869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544621501	chr1:246415945-246415946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76405703	chr1:246415964-246415965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540736768	chr1:246415994-246415995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560567694	chr1:246416007-246416008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532391365	chr1:246416078-246416079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72776331	chr1:246416111-246416112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1339968	chr1:246416121-246416122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531530590	chr1:246416154-246416155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142941769	chr1:246416159-246416160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544383476	chr1:246416164-246416165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566457090	chr1:246416166-246416167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1780824	chr1:246416196-246416197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6685894	chr1:246416237-246416238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570202436	chr1:246416298-246416299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371698224	chr1:246416316-246416317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539254702	chr1:246416360-246416361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147425065	chr1:246416391-246416392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11398684	chr1:246416447-246416448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397862081	chr1:246416452-246416453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569404002	chr1:246416454-246416455	Enhancers Weak transcription	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:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246411800-246425600	Weak transcription	Osteobl	bone
2	chr1:246416400-246417200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:246416600-246417200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:246418000-246425800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:246420600-246424000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:246421400-246421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:246421800-246423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:246421800-246423000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:246422400-246424400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:246422800-246423800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr1:246423000-246423400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:246423000-246423600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:246423000-246423600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:246423000-246423600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:246423000-246423600	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr1:246423200-246423400	ZNF genes & repeats	Aorta	Aorta
17	chr1:246423400-246428400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:246423400-246509000	Weak transcription	Aorta	Aorta
19	chr1:246423600-246423800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:246423600-246423800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:246423600-246425200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:246423600-246433000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:246423800-246428600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:246425200-246425600	Enhancers	Fetal Intestine Small	intestine
25	chr1:246425600-246426000	Enhancers	Osteobl	bone
26	chr1:246425600-246430800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:246425800-246426800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:246426200-246426600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:246426200-246426600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:246426200-246426600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:246426200-246426600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:246426200-246426800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:246426600-246430400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:246426600-246430800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:246426600-246430800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:246426800-246430800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:246426800-246431000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:246428400-246429400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:246428600-246428800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:246428800-246429200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:246429200-246430400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:246429200-246431000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:246429400-246434000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:246430400-246431800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:246430400-246432000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:246430600-246431000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr1:246430600-246432000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:246430800-246431400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:246430800-246431400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:246430800-246431400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links