Variant report

Variant	nsv560405
Chromosome Location	chr12:120426469-120427457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:479)
CpG islands
(count:367)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:120426946-120426970	K562	blood:	n/a	n/a
2	BACH1	chr12:120426133-120427103	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr12:120426645-120426999	GM12878	blood:	n/a	chr12:120426812-120426825 chr12:120426755-120426768 chr12:120426814-120426827
4	BHLHE40	chr12:120426527-120427257	GM12878	blood:	n/a	chr12:120426819-120426835 chr12:120426595-120426611 chr12:120426812-120426828 chr12:120426992-120427008 chr12:120426807-120426823
5	BHLHE40	chr12:120426388-120427256	K562	blood:	n/a	chr12:120426819-120426835 chr12:120426595-120426611 chr12:120426812-120426828 chr12:120426992-120427008 chr12:120426807-120426823
6	BRCA1	chr12:120426757-120426942	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr12:120426485-120427334	K562	blood:	n/a	chr12:120426959-120426968 chr12:120426571-120426580
8	CEBPB	chr12:120426848-120426936	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr12:120426536-120426634	K562	blood:	n/a	n/a
10	CEBPB	chr12:120426321-120426993	Hela-S3	cervix:	n/a	n/a
11	CHD1	chr12:120427197-120427204	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr12:120426789-120426904	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr12:120426371-120427841	Hela-S3	cervix:	n/a	chr12:120426960-120426970 chr12:120426965-120426975 chr12:120426992-120427002 chr12:120427435-120427445
14	CHD2	chr12:120427300-120427421	HepG2	liver:	n/a	n/a
15	CREB1	chr12:120426488-120427436	A549	lung:	n/a	n/a
16	CREB1	chr12:120426373-120427938	HepG2	liver:	n/a	n/a
17	CTCF	chr12:120426700-120426850	GM12869	blood:	n/a	n/a
18	CTCF	chr12:120427102-120427335	K562	blood:	n/a	n/a
19	CTCF	chr12:120426320-120426470	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr12:120426380-120426530	HRE	kidney:	n/a	n/a
21	CTCF	chr12:120426764-120426954	GM19238	blood:	n/a	n/a
22	CTCF	chr12:120426837-120426967	GM10266	blood:	n/a	n/a
23	CTCF	chr12:120426320-120426470	AG04449	skin:	n/a	n/a
24	CTCF	chr12:120426794-120426915	GM19240	blood:	n/a	n/a
25	CTCF	chr12:120426360-120426510	NHEK	skin:	n/a	n/a
26	CTCF	chr12:120426880-120427030	GM12867	blood:	n/a	n/a
27	CTCF	chr12:120426410-120426564	GM13977	blood:	n/a	n/a
28	CTCF	chr12:120426638-120427039	K562	blood:	n/a	chr12:120427019-120427032
29	CTCF	chr12:120426780-120426930	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr12:120427207-120427311	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr12:120426320-120426470	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr12:120427200-120427350	GM12873	blood:	n/a	n/a
33	CTCF	chr12:120426784-120426931	MCF-7	breast:	n/a	n/a
34	CTCF	chr12:120426315-120426537	GM12891	blood:	n/a	n/a
35	CTCF	chr12:120426340-120426490	GM12871	blood:	n/a	n/a
36	CTCF	chr12:120427192-120427314	MCF-7	breast:	n/a	n/a
37	CTCF	chr12:120426720-120426870	HepG2	liver:	n/a	n/a
38	CTCF	chr12:120426360-120426510	GM12868	blood:	n/a	n/a
39	CTCF	chr12:120426320-120426470	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chr12:120426400-120426550	AG04450	lung:	n/a	n/a
41	CTCF	chr12:120426400-120426550	GM12864	blood:	n/a	n/a
42	CTCF	chr12:120426340-120426490	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr12:120426287-120426572	Gliobla	brain:	n/a	n/a
44	CTCF	chr12:120427206-120427325	GM19238	blood:	n/a	n/a
45	CTCF	chr12:120426310-120426552	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:120426771-120426915	GM12878	blood:	n/a	n/a
47	CTCF	chr12:120427194-120427317	GM19239	blood:	n/a	n/a
48	CTCF	chr12:120426320-120426470	HMEC	breast:	n/a	n/a
49	CTCF	chr12:120426708-120426922	MCF-7	breast:	n/a	n/a
50	CTCF	chr12:120426380-120426530	HFF-Myc	foreskin:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120427182-120427232	AG04449	skin:	fetal
2	chr12:120427182-120427232	AG04449	skin:	fetal
3	chr12:120427182-120427232	PFSK-1	brain:	n/a
4	chr12:120427182-120427232	NT2-D1	testis:	n/a
5	chr12:120426618-120426668	RPTEC	kidney:	n/a
6	chr12:120427182-120427232	PANC-1	pancreas:	n/a
7	chr12:120427178-120427228	HPAEpiC	pulmonary alveolar:	n/a
8	chr12:120426784-120426834	NT2-D1	testis:	n/a
9	chr12:120426529-120426579	HNPCEpiC	eye:	n/a
10	chr12:120427182-120427232	GM06990	blood:	n/a
11	chr12:120426550-120426600	Jurkat	blood:	n/a
12	chr12:120427178-120427228	SK-N-MC	brain:	n/a
13	chr12:120427182-120427232	SAEC	small airway:	n/a
14	chr12:120426550-120426600	SKMC	muscle:	n/a
15	chr12:120426529-120426579	Hepatocyte	liver:	n/a
16	chr12:120427178-120427228	H1-hESC	embryonic stem cell:	embryo
17	chr12:120426784-120426834	ProgFib	skin:	n/a
18	chr12:120426550-120426600	ECC-1	luminal epithelium:	n/a
19	chr12:120427178-120427228	HAEpiC	amniotic membrane:	n/a
20	chr12:120426618-120426668	AG09309	skin:	n/a
21	chr12:120426784-120426834	A549	lung:	n/a
22	chr12:120426550-120426600	BE2_C	brain:	n/a
23	chr12:120426784-120426834	GM19239	blood:	n/a
24	chr12:120426529-120426579	HL-60	blood:	n/a
25	chr12:120426784-120426834	NB4	blood:	n/a
26	chr12:120426784-120426834	AG04449	skin:	fetal
27	chr12:120427182-120427232	HCM	heart:	n/a
28	chr12:120426784-120426834	Hepatocyte	liver:	n/a
29	chr12:120426784-120426834	MCF-7	breast:	n/a
30	chr12:120426550-120426600	HL-60	blood:	n/a
31	chr12:120426784-120426834	AG04450	lung:	fetal
32	chr12:120427178-120427228	HNPCEpiC	eye:	n/a
33	chr12:120426784-120426834	GM12878	blood:	n/a
34	chr12:120426550-120426600	AG10803	skin:	n/a
35	chr12:120427182-120427232	HPAEpiC	pulmonary alveolar:	n/a
36	chr12:120426529-120426579	NHBE	bronchial:	n/a
37	chr12:120427178-120427228	RPTEC	kidney:	n/a
38	chr12:120426550-120426600	HEEpiC	esophagus:	n/a
39	chr12:120426784-120426834	PANC-1	pancreas:	n/a
40	chr12:120426529-120426579	GM12892	blood:	n/a
41	chr12:120426550-120426600	GM19239	blood:	n/a
42	chr12:120427182-120427232	SKMC	muscle:	n/a
43	chr12:120426618-120426668	CMK	blood:	n/a
44	chr12:120426550-120426600	SAEC	small airway:	n/a
45	chr12:120427182-120427232	Hepatocyte	liver:	n/a
46	chr12:120426550-120426600	AG04449	skin:	fetal
47	chr12:120426529-120426579	ovcar-3	ovarian:	n/a
48	chr12:120426618-120426668	HRPEpiC	eye:	n/a
49	chr12:120426550-120426600	HCF	heart:	n/a
50	chr12:120426550-120426600	GM12892	blood:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:
2	chr12:120426620..120429059-chr12:120727400..120730169,3	MCF-7	breast:
3	chr12:120426746..120427474-chr12:133338037..133338792,2	HCT-116	colon:
4	chr12:120426002..120427624-chr12:120517341..120518989,2	MCF-7	breast:
5	chr12:120420153..120423656-chr12:120424541..120427660,4	MCF-7	breast:
6	chr12:120425546..120427435-chr12:120477512..120479258,2	MCF-7	breast:
7	chr12:120426493..120428297-chr12:120534910..120538709,3	MCF-7	breast:
8	chr12:120425840..120426796-chr20:19097523..19098151,2	MCF-7	breast:
9	chr12:120426261..120428229-chr12:120638078..120640091,2	MCF-7	breast:
10	chr12:120424699..120427677-chr12:120728453..120732318,6	K562	blood:
11	chr12:120425977..120426934-chr12:120517209..120518213,3	MCF-7	breast:
12	chr12:120425404..120428200-chr12:120435927..120438924,2	K562	blood:
13	chr12:120313729..120318058-chr12:120425281..120428238,3	K562	blood:
14	chr12:120426492..120427432-chr12:120524501..120525382,2	K562	blood:
15	chr12:120425735..120427312-chr12:120553344..120556119,2	MCF-7	breast:
16	chr12:120426982..120427577-chr19:56825701..56826223,2	Hela-S3	cervix:
17	chr12:120427086..120431307-chr12:120435070..120439124,5	MCF-7	breast:
18	chr12:120420772..120424084-chr12:120424860..120426963,3	MCF-7	breast:
19	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:

No data

Variant related genes	Relation type
CCDC64	TF binding region
CCDC64	CpG island
ENSG00000135127	chromatin interactions
ENSG00000131848	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000176915	chromatin interactions
ENSG00000122966	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000267549	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7980464	chr12:120426469-120426470	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551076333	chr12:120426556-120426557	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs143895026	chr12:120426578-120426579	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs533627206	chr12:120426620-120426621	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs553192597	chr12:120426630-120426631	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs573383339	chr12:120426634-120426635	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs148606147	chr12:120426651-120426652	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs186431259	chr12:120426697-120426698	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs575567940	chr12:120426774-120426775	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs113195038	chr12:120426781-120426782	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs79878785	chr12:120426826-120426827	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs564449072	chr12:120426878-120426879	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs578167054	chr12:120426898-120426899	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs117426293	chr12:120426905-120426906	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs560134979	chr12:120426946-120426947	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs529036769	chr12:120426952-120426953	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs549016583	chr12:120426955-120426956	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs562767456	chr12:120427008-120427009	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs531480554	chr12:120427040-120427041	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs7306494	chr12:120427075-120427076	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs10603226	chr12:120427097-120427098	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs201855386	chr12:120427266-120427267	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs71745796	chr12:120427267-120427268	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs112694456	chr12:120427284-120427285	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs140135341	chr12:120427384-120427385	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs547424498	chr12:120427394-120427395	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120426000-120426600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr12:120426000-120426600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr12:120426000-120426600	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr12:120426000-120426600	Bivalent Enhancer	Fetal Brain Male	brain
5	chr12:120426000-120426600	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr12:120426000-120427400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:120426200-120426600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:120426200-120426600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:120426200-120426600	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr12:120426200-120426600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr12:120426200-120426600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr12:120426200-120426600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr12:120426200-120426600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:120426200-120426600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr12:120426200-120426600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:120426200-120426600	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr12:120426200-120426600	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr12:120426200-120426600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr12:120426200-120426600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
20	chr12:120426200-120426600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr12:120426200-120426600	Flanking Active TSS	Fetal Brain Female	brain
22	chr12:120426200-120426600	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr12:120426200-120426600	Bivalent Enhancer	Fetal Lung	lung
24	chr12:120426200-120426600	Flanking Active TSS	Fetal Thymus	thymus
25	chr12:120426200-120426600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr12:120426200-120426600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:120426200-120426600	Enhancers	Small Intestine	intestine
28	chr12:120426200-120426600	Flanking Active TSS	Thymus	Thymus
29	chr12:120426200-120426600	Enhancers	Spleen	Spleen
30	chr12:120426200-120426600	Flanking Active TSS	GM12878-XiMat	blood
31	chr12:120426200-120426600	Flanking Active TSS	HepG2	liver
32	chr12:120426200-120426600	Flanking Active TSS	HMEC	breast
33	chr12:120426200-120426600	Flanking Active TSS	K562	blood
34	chr12:120426200-120426600	Enhancers	NHDF-Ad	bronchial
35	chr12:120426200-120426800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr12:120426200-120426800	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr12:120426200-120426800	Flanking Active TSS	Colonic Mucosa	Colon
38	chr12:120426200-120426800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr12:120426200-120426800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr12:120426200-120427000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:120426200-120427400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr12:120426200-120427400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
43	chr12:120426200-120427800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:120426200-120427800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:120426200-120428000	Active TSS	H1 Cell Line	embryonic stem cell
46	chr12:120426200-120428000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:120426200-120428000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr12:120426200-120428000	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:120426200-120428200	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:120426200-120428200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links