Variant report

Variant	nsv1039821
Chromosome Location	chr12:38959645-39121578
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	ATF1	chr12:39071567-39071659	K562	blood:	n/a	n/a
2	BATF	chr12:39099400-39099564	GM12878	blood:	n/a	chr12:39099497-39099506
3	BATF	chr12:38978937-38979254	GM12878	blood:	n/a	chr12:38978975-38978984 chr12:38979090-38979101
4	BATF	chr12:38978987-38979244	GM12878	blood:	n/a	chr12:38979090-38979101
5	BRCA1	chr12:39008036-39008268	GM12878	blood:	n/a	n/a
6	BRCA1	chr12:38980636-38980915	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr12:39063333-39063714	K562	blood:	n/a	n/a
8	CCNT2	chr12:39063401-39063641	K562	blood:	n/a	n/a
9	CEBPB	chr12:39104839-39105211	HepG2	liver:	n/a	chr12:39104974-39104985 chr12:39104995-39105006 chr12:39105100-39105111 chr12:39104978-39104989
10	CEBPB	chr12:39071847-39072062	HepG2	liver:	n/a	chr12:39071883-39071894 chr12:39071971-39071980
11	CEBPB	chr12:39057555-39057649	HepG2	liver:	n/a	chr12:39057586-39057597
12	CEBPB	chr12:39022099-39022488	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:39063418-39063594	K562	blood:	n/a	n/a
14	CEBPB	chr12:39032394-39032525	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr12:39058615-39058676	A549	lung:	n/a	n/a
16	CEBPB	chr12:39036571-39036719	A549	lung:	n/a	n/a
17	CEBPB	chr12:39022867-39023227	MCF-7	breast:	n/a	chr12:39023102-39023113 chr12:39023102-39023115 chr12:39023103-39023114 chr12:39023102-39023115
18	CEBPB	chr12:39023027-39023238	K562	blood:	n/a	chr12:39023102-39023113 chr12:39023102-39023115 chr12:39023103-39023114 chr12:39023102-39023115
19	CEBPB	chr12:39001091-39001504	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr12:39022972-39023196	A549	lung:	n/a	chr12:39023102-39023113 chr12:39023102-39023115 chr12:39023103-39023114 chr12:39023102-39023115
21	CEBPB	chr12:38981442-38981823	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr12:38982717-38983202	ECC-1	luminal epithelium:	n/a	chr12:38982971-38982982
23	CEBPB	chr12:38982837-38983151	H1-hESC	embryonic stem cell:	n/a	chr12:38982971-38982982
24	CEBPB	chr12:39104828-39105458	Hela-S3	cervix:	n/a	chr12:39104974-39104985 chr12:39104995-39105006 chr12:39105100-39105111 chr12:39104978-39104989
25	CEBPB	chr12:38982562-38983243	Hela-S3	cervix:	n/a	chr12:38982971-38982982
26	CEBPB	chr12:39063374-39063663	K562	blood:	n/a	n/a
27	CEBPB	chr12:39022827-39023294	Hela-S3	cervix:	n/a	chr12:39023102-39023113 chr12:39023102-39023115 chr12:39023103-39023114 chr12:39023102-39023115
28	CEBPB	chr12:39096506-39096527	K562	blood:	n/a	n/a
29	CEBPB	chr12:38982762-38983190	ECC-1	luminal epithelium:	n/a	chr12:38982971-38982982
30	CEBPB	chr12:39104963-39105137	A549	lung:	n/a	chr12:39104974-39104985 chr12:39104995-39105006 chr12:39105100-39105111 chr12:39104978-39104989
31	CEBPB	chr12:38980443-38981124	Hela-S3	cervix:	n/a	chr12:38980701-38980710 chr12:38980701-38980710 chr12:38980917-38980930 chr12:38980701-38980710 chr12:38980701-38980710 chr12:38980701-38980712
32	CEBPB	chr12:39063350-39063709	K562	blood:	n/a	n/a
33	CEBPB	chr12:38982893-38983133	MCF-7	breast:	n/a	chr12:38982971-38982982
34	CEBPB	chr12:39115222-39115406	H1-hESC	embryonic stem cell:	n/a	chr12:39115307-39115318
35	CEBPB	chr12:39022951-39023254	HepG2	liver:	n/a	chr12:39023102-39023113 chr12:39023102-39023115 chr12:39023103-39023114 chr12:39023102-39023115
36	CEBPB	chr12:38980570-38980873	A549	lung:	n/a	chr12:38980701-38980710 chr12:38980701-38980710 chr12:38980701-38980710 chr12:38980701-38980710 chr12:38980701-38980712
37	CEBPB	chr12:38982828-38983122	HepG2	liver:	n/a	chr12:38982971-38982982
38	CEBPB	chr12:39115180-39115346	HepG2	liver:	n/a	chr12:39115307-39115318
39	CHD2	chr12:38980670-38980954	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr12:39104897-39105096	GM12878	blood:	n/a	n/a
41	CHD2	chr12:39007988-39008336	GM12878	blood:	n/a	n/a
42	CTCF	chr12:39058580-39058730	GM12873	blood:	n/a	chr12:39058655-39058671 chr12:39058656-39058677 chr12:39058654-39058672
43	CTCF	chr12:39058580-39058730	HPAF	blood vessel:	n/a	chr12:39058655-39058671 chr12:39058656-39058677 chr12:39058654-39058672
44	CTCF	chr12:39058564-39058765	A549	lung:	n/a	chr12:39058655-39058671 chr12:39058656-39058677 chr12:39058654-39058672
45	CTCF	chr12:39058600-39058750	GM12871	blood:	n/a	chr12:39058655-39058671 chr12:39058656-39058677 chr12:39058654-39058672
46	CTCF	chr12:39058503-39058816	MCF-7	breast:	n/a	chr12:39058655-39058671 chr12:39058656-39058677 chr12:39058654-39058672
47	CTCF	chr12:39058441-39058843	H1-hESC	embryonic stem cell:	n/a	chr12:39058655-39058671 chr12:39058656-39058677 chr12:39058654-39058672 chr12:39058821-39058842
48	CTCF	chr12:39058567-39058734	GM20000	blood:	n/a	chr12:39058655-39058671 chr12:39058656-39058677 chr12:39058654-39058672
49	CTCF	chr12:39114980-39115130	GM12866	blood:	n/a	n/a
50	CTCF	chr12:39058520-39058670	GM12867	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:39115589-39115639	AG09309	skin:	n/a
2	chr12:39115661-39115711	AoSMC	blood vessel:	n/a
3	chr12:38984007-38984057	NHDF-neo	bronchial:	n/a
4	chr12:38984007-38984057	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:39115589-39115639	ProgFib	skin:	n/a
6	chr12:39115589-39115639	ovcar-3	ovarian:	n/a
7	chr12:38984007-38984057	GM12878	blood:	n/a
8	chr12:39115589-39115639	HEEpiC	esophagus:	n/a
9	chr12:38984007-38984057	NT2-D1	testis:	n/a
10	chr12:39115661-39115711	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:38984007-38984057	HEEpiC	esophagus:	n/a
12	chr12:39115589-39115639	AG04449	skin:	fetal
13	chr12:39115661-39115711	HCT-116	colon:	n/a
14	chr12:39115661-39115711	GM12878	blood:	n/a
15	chr12:39115589-39115639	HRE	kidney:	n/a
16	chr12:39115589-39115639	HCPEpiC	choroid plexus:	n/a
17	chr12:39115589-39115639	Hepatocyte	liver:	n/a
18	chr12:39115589-39115639	GM12892	blood:	n/a
19	chr12:38984007-38984057	SK-N-MC	brain:	n/a
20	chr12:39115661-39115711	SK-N-SH_RA	brain:	n/a
21	chr12:39115661-39115711	HEK293	kidney:	embryo
22	chr12:38984007-38984057	Jurkat	blood:	n/a
23	chr12:39115661-39115711	GM12892	blood:	n/a
24	chr12:39115589-39115639	PrEC	prostate:	n/a
25	chr12:39115589-39115639	SK-N-SH_RA	brain:	n/a
26	chr12:38984007-38984057	HRPEpiC	eye:	n/a
27	chr12:38984007-38984057	A549	lung:	n/a
28	chr12:39115589-39115639	MCF10A-Er-Src	breast:	n/a
29	chr12:38984007-38984057	HCM	heart:	n/a
30	chr12:38984007-38984057	IMR90	lung:	fetal
31	chr12:39115661-39115711	MCF10A-Er-Src	breast:	n/a
32	chr12:39115589-39115639	U87	brain:	n/a
33	chr12:39115661-39115711	NB4	blood:	n/a
34	chr12:38984007-38984057	AG09309	skin:	n/a
35	chr12:39115661-39115711	HRE	kidney:	n/a
36	chr12:39115661-39115711	T-47D	breast:	n/a
37	chr12:39115661-39115711	CMK	blood:	n/a
38	chr12:39115589-39115639	HRPEpiC	eye:	n/a
39	chr12:38984007-38984057	SKMC	muscle:	n/a
40	chr12:38984007-38984057	Hela-S3	cervix:	n/a
41	chr12:39115661-39115711	AG04450	lung:	fetal
42	chr12:38984007-38984057	Hepatocyte	liver:	n/a
43	chr12:39115661-39115711	NH-A	brain:	n/a
44	chr12:39115661-39115711	BJ	skin:	n/a
45	chr12:39115661-39115711	HRCEpiC	kidney:	n/a
46	chr12:39115589-39115639	NT2-D1	testis:	n/a
47	chr12:39115661-39115711	U87	brain:	n/a
48	chr12:38984007-38984057	PANC-1	pancreas:	n/a
49	chr12:38984007-38984057	ECC-1	luminal epithelium:	n/a
50	chr12:39115661-39115711	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:38990179..38991129-chr4:2331691..2332483,2	Hela-S3	cervix:
2	chr12:39058213..39059596-chr12:39300191..39301086,4	MCF-7	breast:
3	chr12:39078731..39079461-chr2:68493058..68493608,2	MCF-7	breast:
4	chr12:39058333..39059128-chr12:39497120..39498000,2	MCF-7	breast:
5	chr10:83534180..83535134-chr12:39026306..39026897,2	HCT-116	colon:
6	chr12:38954957..38957532-chr12:38958850..38960983,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10B-7	chr12:39020465-39020542	NONHSAT027688
2	lnc-CPNE8-1	chr12:38983517-38983614	ENSG00000258119
3	lnc-CPNE8-1	chr12:38983132-38983232	ENSG00000258119
4	lnc-ALG10B-7	chr12:39009229-39009654	NONHSAT027688
5	lnc-CPNE8-1	chr12:38983132-38983232	XLOC_010050
6	lnc-CPNE8-1	chr12:38983517-38983614	XLOC_010050

No.	miRNA target gene	miRNA name	Chromosome Location
1	CPNE8	hsa-miR-30a-5p	chr12:39047301-39047322
2	CPNE8	hsa-miR-30a-5p	chr12:39047307-39047300
3	CPNE8	hsa-miR-124-3p	chr12:39046441-39046460

Variant related genes	Relation type
CPNE8	TF binding region
ENSG00000258119	TF binding region
CPNE8	CpG island
ENSG00000258119	CpG island
ENSG00000257718	chromatin interactions
SLC39A14	miRNA target sites
C1D	miRNA target sites
SLC39A11	miRNA target sites

Extended variants
information (count: 3969 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3969 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566774372	chr12:38965012-38965013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538053599	chr12:38965052-38965053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184663750	chr12:38965061-38965062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549066816	chr12:38965078-38965079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74085715	chr12:38965080-38965081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189063729	chr12:38965165-38965166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557899034	chr12:38965180-38965181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148070268	chr12:38965189-38965190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533889000	chr12:38965212-38965213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368609083	chr12:38965260-38965261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145316323	chr12:38965264-38965265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549935410	chr12:38965265-38965266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373700600	chr12:38965320-38965321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200725952	chr12:38965342-38965343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80081831	chr12:38965361-38965362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542698330	chr12:38965367-38965368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562594132	chr12:38965418-38965419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192533035	chr12:38965422-38965423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544975399	chr12:38965558-38965559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141783404	chr12:38965601-38965602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530551116	chr12:38965619-38965620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568231593	chr12:38965626-38965627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547022676	chr12:38965695-38965696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35080158	chr12:38965704-38965705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539004754	chr12:38965722-38965723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375949919	chr12:38965726-38965727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529465746	chr12:38965727-38965728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150575069	chr12:38965728-38965729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140457306	chr12:38965762-38965763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552125034	chr12:38965776-38965777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116184276	chr12:38965872-38965873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551748293	chr12:38965949-38965950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535611180	chr12:38965965-38965966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571591904	chr12:38966011-38966012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144317630	chr12:38966028-38966029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1604559	chr12:38966029-38966030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147369784	chr12:38966046-38966047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536468055	chr12:38966082-38966083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75213106	chr12:38966088-38966089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576186980	chr12:38966181-38966182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544826403	chr12:38966223-38966224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558518709	chr12:38966224-38966225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546892707	chr12:38966242-38966243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139534876	chr12:38966244-38966245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540890452	chr12:38966275-38966276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1604560	chr12:38966293-38966294	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529575466	chr12:38966309-38966310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34437505	chr12:38966323-38966324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76325400	chr12:38966353-38966354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562788310	chr12:38966406-38966407	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38965000-38966600	Enhancers	Placenta	Placenta
2	chr12:38978600-38983200	Enhancers	Hela-S3	cervix
3	chr12:38979200-38979400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:38979200-38983200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:38979400-38980400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr12:38979400-38981200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:38980400-38981400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:38980400-38982200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:38980600-38982800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:38981000-38981800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:38981200-38981600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:38981200-38981600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:38981200-38981600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:38981400-38982600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:38981600-38982600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:38982200-38983200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:38982600-38982800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:38982600-38982800	Enhancers	Fetal Lung	lung
19	chr12:38982600-38983200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:38982800-38983200	Enhancers	Fetal Kidney	kidney
21	chr12:38995600-38996800	Enhancers	Hela-S3	cervix
22	chr12:39004600-39005200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:39004800-39005200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:39005200-39007800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:39007800-39008200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:39012000-39012400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:39017200-39017600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:39017800-39018200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:39018200-39018600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:39018600-39020000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:39019000-39019600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:39022600-39023200	Enhancers	Hela-S3	cervix
33	chr12:39030400-39030800	Enhancers	Esophagus	oesophagus
34	chr12:39030800-39035000	Weak transcription	Esophagus	oesophagus
35	chr12:39031800-39032600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:39033000-39034000	Enhancers	Placenta	Placenta
37	chr12:39034000-39034800	Weak transcription	Placenta	Placenta
38	chr12:39035000-39035200	Enhancers	Esophagus	oesophagus
39	chr12:39035200-39035400	Enhancers	Placenta	Placenta
40	chr12:39038800-39041400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:39039200-39039400	Enhancers	Left Ventricle	heart
42	chr12:39039400-39053000	Weak transcription	Left Ventricle	heart
43	chr12:39039600-39039800	Enhancers	Hela-S3	cervix
44	chr12:39039800-39055800	Weak transcription	Hela-S3	cervix
45	chr12:39041000-39041200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:39041200-39041800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:39041400-39049400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:39041800-39043000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:39042400-39043200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:39042600-39043200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links