Variant report

Variant	nsv1007168
Chromosome Location	chr1:152754630-152773905
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	chr1:152758620-152758770	SAEC	small airway:	n/a	n/a
2	CTCF	chr1:152758480-152758630	HMEC	breast:	n/a	n/a
3	CTCF	chr1:152758560-152758710	HMEC	breast:	n/a	n/a
4	CTCF	chr1:152758640-152758790	SAEC	small airway:	n/a	n/a
5	CTCF	chr1:152758560-152758710	MCF-7	breast:	n/a	n/a
6	CTCF	chr1:152769160-152769310	GM12869	blood:	n/a	n/a
7	CTCF	chr1:152758560-152758710	NHEK	skin:	n/a	n/a
8	CTCF	chr1:152758560-152758710	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr1:152758532-152758657	NHEK	skin:	n/a	n/a
10	CTCF	chr1:152772992-152773083	GM10266	blood:	n/a	n/a
11	CTCF	chr1:152758500-152758650	GM12874	blood:	n/a	n/a
12	CTCF	chr1:152758480-152758630	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr1:152769087-152769143	Fibrobl	skin:	n/a	n/a
14	EBF1	chr1:152757069-152757071	GM12878	blood:	n/a	n/a
15	FOS	chr1:152758540-152758758	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:152758506-152758818	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:152755680-152755881	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:152773863-152774161	MCF10A-Er-Src	breast:	n/a	chr1:152774008-152774016 chr1:152774007-152774017 chr1:152774006-152774018
19	FOS	chr1:152758570-152758718	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:152755681-152755857	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:152773870-152774066	MCF10A-Er-Src	breast:	n/a	chr1:152774008-152774016 chr1:152774007-152774017 chr1:152774006-152774018
22	FOS	chr1:152758533-152758807	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA2	chr1:152755392-152756056	HUVEC	blood vessel:	n/a	chr1:152755525-152755534 chr1:152755915-152755924
24	GATA2	chr1:152755508-152755735	SH-SY5Y	brain:	n/a	chr1:152755525-152755534
25	GATA3	chr1:152755295-152755433	SH-SY5Y	brain:	n/a	n/a
26	IRF1	chr1:152771838-152771869	K562	blood:	n/a	n/a
27	MAFF	chr1:152773839-152774176	HepG2	liver:	n/a	chr1:152773999-152774017 chr1:152774005-152774019
28	MAFF	chr1:152773860-152774158	K562	blood:	n/a	chr1:152773999-152774017 chr1:152774005-152774019
29	MAFK	chr1:152773841-152774182	IMR90	lung:	n/a	chr1:152774009-152774018 chr1:152774008-152774018 chr1:152774006-152774015 chr1:152774002-152774022 chr1:152774005-152774019 chr1:152774004-152774020 chr1:152774001-152774017 chr1:152774001-152774016
30	MAFK	chr1:152773842-152774192	HepG2	liver:	n/a	chr1:152774009-152774018 chr1:152774008-152774018 chr1:152774006-152774015 chr1:152774002-152774022 chr1:152774005-152774019 chr1:152774004-152774020 chr1:152774001-152774017 chr1:152774001-152774016
31	MAFK	chr1:152773863-152774181	K562	blood:	n/a	chr1:152774009-152774018 chr1:152774008-152774018 chr1:152774006-152774015 chr1:152774002-152774022 chr1:152774005-152774019 chr1:152774004-152774020 chr1:152774001-152774017 chr1:152774001-152774016
32	MAFK	chr1:152766742-152766841	HepG2	liver:	n/a	chr1:152766787-152766803 chr1:152766788-152766802 chr1:152766791-152766801 chr1:152766785-152766805 chr1:152766792-152766801 chr1:152766789-152766798 chr1:152766784-152766800
33	MAFK	chr1:152773827-152774195	HepG2	liver:	n/a	chr1:152774009-152774018 chr1:152774008-152774018 chr1:152774006-152774015 chr1:152774002-152774022 chr1:152774005-152774019 chr1:152774004-152774020 chr1:152774001-152774017 chr1:152774001-152774016
34	MAFK	chr1:152773121-152773159	HepG2	liver:	n/a	n/a
35	MAZ	chr1:152758779-152758852	HepG2	liver:	n/a	n/a
36	MYC	chr1:152758505-152758819	MCF10A-Er-Src	breast:	n/a	chr1:152758627-152758637 chr1:152758628-152758638
37	MYC	chr1:152758504-152758818	MCF10A-Er-Src	breast:	n/a	chr1:152758627-152758637 chr1:152758628-152758638
38	MYC	chr1:152769224-152769300	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr1:152758556-152758687	A549	lung:	n/a	n/a
40	POLR2A	chr1:152755662-152755818	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:152760649-152760777	Gliobla	brain:	n/a	n/a
42	POLR2A	chr1:152760407-152760482	Gliobla	brain:	n/a	n/a
43	POLR2A	chr1:152770872-152770963	Gliobla	brain:	n/a	n/a
44	RFX5	chr1:152772783-152772834	K562	blood:	n/a	n/a
45	SIN3A	chr1:152755415-152755520	H1-hESC	embryonic stem cell:	n/a	n/a
46	SPI1	chr1:152770565-152770690	K562	blood:	n/a	n/a
47	SPI1	chr1:152760090-152760329	K562	blood:	n/a	n/a
48	STAT3	chr1:152758621-152758622	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr1:152773902-152774102	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr1:152758236-152758310	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152769896-152769946	U87	brain:	n/a
2	chr1:152769896-152769946	U87	brain:	n/a
3	chr1:152758755-152758805	H1-hESC	embryonic stem cell:	embryo
4	chr1:152760341-152760391	Hela-S3	cervix:	n/a
5	chr1:152769896-152769946	PANC-1	pancreas:	n/a
6	chr1:152768267-152768317	HAEpiC	amniotic membrane:	n/a
7	chr1:152760341-152760391	HCF	heart:	n/a
8	chr1:152760341-152760391	HepG2	liver:	n/a
9	chr1:152759772-152759822	Jurkat	blood:	n/a
10	chr1:152758453-152758503	ProgFib	skin:	n/a
11	chr1:152770502-152770552	GM06990	blood:	n/a
12	chr1:152758632-152758682	HCF	heart:	n/a
13	chr1:152757464-152757514	LNCaP	prostate:	n/a
14	chr1:152759772-152759822	NH-A	brain:	n/a
15	chr1:152760341-152760391	AG04450	lung:	fetal
16	chr1:152768727-152768777	HCM	heart:	n/a
17	chr1:152758453-152758503	HEEpiC	esophagus:	n/a
18	chr1:152758632-152758682	AG09309	skin:	n/a
19	chr1:152770502-152770552	NH-A	brain:	n/a
20	chr1:152758632-152758682	MCF-7	breast:	n/a
21	chr1:152760341-152760391	AG09319	gingival:	n/a
22	chr1:152758632-152758682	RPTEC	kidney:	n/a
23	chr1:152760341-152760391	HNPCEpiC	eye:	n/a
24	chr1:152759772-152759822	HIPEpiC	eye:	n/a
25	chr1:152768267-152768317	GM06990	blood:	n/a
26	chr1:152759772-152759822	PFSK-1	brain:	n/a
27	chr1:152757464-152757514	HIPEpiC	eye:	n/a
28	chr1:152770520-152770570	IMR90	lung:	fetal
29	chr1:152769246-152769296	U87	brain:	n/a
30	chr1:152758632-152758682	PANC-1	pancreas:	n/a
31	chr1:152758755-152758805	AG04449	skin:	fetal
32	chr1:152769896-152769946	MCF10A-Er-Src	breast:	n/a
33	chr1:152758755-152758805	ProgFib	skin:	n/a
34	chr1:152769896-152769946	NHDF-neo	bronchial:	n/a
35	chr1:152760341-152760391	K562	blood:	n/a
36	chr1:152758632-152758682	NB4	blood:	n/a
37	chr1:152757464-152757514	K562	blood:	n/a
38	chr1:152758755-152758805	IMR90	lung:	fetal
39	chr1:152770520-152770570	Caco-2	colon:	n/a
40	chr1:152770520-152770570	A549	lung:	n/a
41	chr1:152770502-152770552	SK-N-SH_RA	brain:	n/a
42	chr1:152758632-152758682	BJ	skin:	n/a
43	chr1:152758453-152758503	NHDF-neo	bronchial:	n/a
44	chr1:152768476-152768526	GM12892	blood:	n/a
45	chr1:152758632-152758682	CMK	blood:	n/a
46	chr1:152757464-152757514	AG10803	skin:	n/a
47	chr1:152768727-152768777	HAEpiC	amniotic membrane:	n/a
48	chr1:152769896-152769946	HUVEC	blood vessel:	n/a
49	chr1:152758453-152758503	RPTEC	kidney:	n/a
50	chr1:152760341-152760391	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152758579..152760547-chr1:152770579..152772468,2	MCF-7	breast:
2	chr1:152769863..152772434-chr1:152783643..152785689,2	MCF-7	breast:

Variant related genes	Relation type
LCE1E	TF binding region
LCE1D	TF binding region
LCE1E	CpG island
LCE1D	CpG island
ENSG00000196734	chromatin interactions
ENSG00000186226	chromatin interactions

Extended variants
information (count: 432 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11586156	chr1:152754630-152754631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561921959	chr1:152754669-152754670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79225270	chr1:152754707-152754708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79361977	chr1:152754708-152754709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531027296	chr1:152754714-152754715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192135665	chr1:152754752-152754753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564584852	chr1:152754799-152754800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533312509	chr1:152754804-152754805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546965004	chr1:152754819-152754820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151091369	chr1:152754825-152754826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566881596	chr1:152754849-152754850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535701632	chr1:152754874-152754875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183891447	chr1:152754878-152754879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558165207	chr1:152754879-152754880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529598787	chr1:152754890-152754891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11205103	chr1:152754916-152754917	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369168951	chr1:152754924-152754925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188649573	chr1:152754944-152754945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543597578	chr1:152754946-152754947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542868431	chr1:152754980-152754981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533689722	chr1:152755078-152755079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373920471	chr1:152755103-152755104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369131610	chr1:152755172-152755173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190663591	chr1:152755178-152755179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372557059	chr1:152755236-152755237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115736193	chr1:152755249-152755250	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542086249	chr1:152755269-152755270	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs559617758	chr1:152755316-152755317	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs528703221	chr1:152755320-152755321	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs562031152	chr1:152755391-152755392	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs575879402	chr1:152755394-152755395	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs73016797	chr1:152755424-152755425	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564566934	chr1:152755443-152755444	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs182480168	chr1:152755489-152755490	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs546781903	chr1:152755497-152755498	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs386635502	chr1:152755506-152755507	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs4845484	chr1:152755507-152755508	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541121764	chr1:152755612-152755613	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs149178842	chr1:152755630-152755631	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs186898305	chr1:152755672-152755673	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs150694166	chr1:152755673-152755674	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs533161257	chr1:152755688-152755689	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs191742891	chr1:152755710-152755711	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs117640646	chr1:152755773-152755774	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs184282474	chr1:152755854-152755855	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs143299971	chr1:152755923-152755924	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs377474270	chr1:152755925-152755926	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs36012879	chr1:152755956-152755957	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs16834503	chr1:152756008-152756009	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569825785	chr1:152756095-152756096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152747800-152755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152754200-152755400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:152754200-152755400	Weak transcription	NHDF-Ad	bronchial
4	chr1:152754200-152756000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:152755400-152755800	Enhancers	NHDF-Ad	bronchial
6	chr1:152755400-152755800	Enhancers	NHEK	skin
7	chr1:152755400-152756000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:152755400-152756000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:152755400-152756000	Enhancers	HMEC	breast
10	chr1:152755400-152756000	Enhancers	NHLF	lung
11	chr1:152755600-152755800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:152755800-152758200	Weak transcription	NHEK	skin
13	chr1:152755800-152758400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:152756000-152758200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:152756000-152758200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:152756000-152758200	Weak transcription	HMEC	breast
17	chr1:152757200-152757400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:152757400-152758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:152758200-152758400	Enhancers	HMEC	breast
20	chr1:152758200-152758600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:152758200-152758600	Enhancers	Fetal Stomach	stomach
22	chr1:152758200-152758800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:152758200-152758800	Enhancers	Ovary	ovary
24	chr1:152758200-152759000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:152758200-152759200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:152758200-152759200	Enhancers	NHEK	skin
27	chr1:152758400-152758600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:152758400-152758800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:152758400-152759400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:152758400-152759400	Flanking Active TSS	HMEC	breast
31	chr1:152758600-152758800	Bivalent Enhancer	Lung	lung
32	chr1:152758600-152759000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:152758600-152759200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:152758800-152759200	Enhancers	HepG2	liver
35	chr1:152759000-152759400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:152759000-152759400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:152759200-152759800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:152759400-152759800	Enhancers	HMEC	breast
39	chr1:152765600-152765800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:152765800-152766000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:152766000-152767800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:152766800-152767800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:152767600-152769600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:152767800-152769000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:152768000-152769000	Enhancers	Brain Hippocampus Middle	brain
46	chr1:152769400-152769800	Enhancers	Spleen	Spleen
47	chr1:152769600-152770200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:152770200-152770400	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links