Variant report

Variant	esv1830763
Chromosome Location	chr1:144331032-144399449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:670)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:144333842-144334072	GM12878	blood:	n/a	n/a
2	BATF	chr1:144379834-144380086	GM12878	blood:	n/a	n/a
3	BATF	chr1:144341397-144342307	GM12878	blood:	n/a	n/a
4	BATF	chr1:144341526-144342037	GM12878	blood:	n/a	n/a
5	BATF	chr1:144339194-144339724	GM12878	blood:	n/a	n/a
6	BATF	chr1:144339109-144341237	GM12878	blood:	n/a	n/a
7	BATF	chr1:144389055-144389404	GM12878	blood:	n/a	chr1:144389254-144389265
8	BATF	chr1:144383897-144384409	GM12878	blood:	n/a	n/a
9	BATF	chr1:144336769-144337135	GM12878	blood:	n/a	n/a
10	BATF	chr1:144379807-144380075	GM12878	blood:	n/a	n/a
11	BATF	chr1:144338647-144338871	GM12878	blood:	n/a	n/a
12	BATF	chr1:144383148-144383389	GM12878	blood:	n/a	n/a
13	BATF	chr1:144340377-144340881	GM12878	blood:	n/a	n/a
14	BATF	chr1:144355401-144355740	GM12878	blood:	n/a	n/a
15	BATF	chr1:144333140-144333410	GM12878	blood:	n/a	n/a
16	BATF	chr1:144383867-144384453	GM12878	blood:	n/a	n/a
17	BATF	chr1:144393889-144394266	GM12878	blood:	n/a	chr1:144393981-144393992 chr1:144394139-144394149
18	BATF	chr1:144384899-144385095	GM12878	blood:	n/a	n/a
19	BATF	chr1:144389062-144389424	GM12878	blood:	n/a	chr1:144389254-144389265
20	BATF	chr1:144343242-144343436	GM12878	blood:	n/a	n/a
21	BATF	chr1:144393767-144394272	GM12878	blood:	n/a	chr1:144393981-144393992 chr1:144394139-144394149
22	BATF	chr1:144355376-144355716	GM12878	blood:	n/a	n/a
23	BATF	chr1:144335044-144335280	GM12878	blood:	n/a	n/a
24	BATF	chr1:144383148-144383357	GM12878	blood:	n/a	n/a
25	BATF	chr1:144335102-144335314	GM12878	blood:	n/a	n/a
26	BCL11A	chr1:144383884-144384348	GM12878	blood:	n/a	n/a
27	BCL11A	chr1:144383818-144384488	GM12878	blood:	n/a	n/a
28	BCL11A	chr1:144383132-144383364	GM12878	blood:	n/a	n/a
29	BCL11A	chr1:144389063-144389405	GM12878	blood:	n/a	n/a
30	BCL11A	chr1:144389051-144389364	GM12878	blood:	n/a	n/a
31	BCL11A	chr1:144379152-144379326	GM12878	blood:	n/a	n/a
32	BCL11A	chr1:144334777-144334967	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:144338573-144342305	GM12878	blood:	n/a	chr1:144341848-144341857 chr1:144341113-144341126 chr1:144340129-144340138 chr1:144341106-144341119 chr1:144339852-144339861 chr1:144340130-144340143 chr1:144341165-144341174 chr1:144340443-144340456 chr1:144342124-144342131
34	BCL11A	chr1:144331015-144331313	GM12878	blood:	n/a	n/a
35	BCL11A	chr1:144346853-144347032	GM12878	blood:	n/a	n/a
36	BCL11A	chr1:144336247-144336448	GM12878	blood:	n/a	n/a
37	BCL11A	chr1:144337966-144338252	GM12878	blood:	n/a	n/a
38	BCL11A	chr1:144333094-144333330	GM12878	blood:	n/a	n/a
39	BCL11A	chr1:144393764-144394277	GM12878	blood:	n/a	chr1:144394141-144394150
40	BCL11A	chr1:144341448-144342159	GM12878	blood:	n/a	chr1:144341848-144341857 chr1:144342124-144342131
41	BCL11A	chr1:144339111-144341319	GM12878	blood:	n/a	chr1:144341113-144341126 chr1:144340129-144340138 chr1:144341106-144341119 chr1:144339852-144339861 chr1:144340130-144340143 chr1:144341165-144341174 chr1:144340443-144340456
42	BCL11A	chr1:144343226-144343500	GM12878	blood:	n/a	n/a
43	BHLHE40	chr1:144340285-144340772	HepG2	liver:	n/a	n/a
44	BHLHE40	chr1:144365400-144365775	HepG2	liver:	n/a	n/a
45	CEBPB	chr1:144339949-144340293	K562	blood:	n/a	n/a
46	CEBPB	chr1:144340095-144340269	K562	blood:	n/a	n/a
47	CEBPB	chr1:144339106-144340157	GM12878	blood:	n/a	n/a
48	CEBPB	chr1:144339988-144340250	K562	blood:	n/a	n/a
49	CEBPB	chr1:144339236-144339678	K562	blood:	n/a	n/a
50	CTCF	chr1:144359596-144359719	GM10248	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144340161-144340211	AG04450	lung:	fetal
2	chr1:144340251-144340301	HepG2	liver:	n/a
3	chr1:144340161-144340211	AG04449	skin:	fetal
4	chr1:144340251-144340301	AG04450	lung:	fetal
5	chr1:144340103-144340153	T-47D	breast:	n/a
6	chr1:144340161-144340211	Hela-S3	cervix:	n/a
7	chr1:144340251-144340301	Hela-S3	cervix:	n/a
8	chr1:144340161-144340211	SK-N-SH_RA	brain:	n/a
9	chr1:144340161-144340211	Hepatocyte	liver:	n/a
10	chr1:144340103-144340153	IMR90	lung:	fetal
11	chr1:144340251-144340301	HEK293	kidney:	embryo
12	chr1:144340103-144340153	NT2-D1	testis:	n/a
13	chr1:144340103-144340153	Caco-2	colon:	n/a
14	chr1:144340103-144340153	HCM	heart:	n/a
15	chr1:144340103-144340153	HCT-116	colon:	n/a
16	chr1:144340251-144340301	HRCEpiC	kidney:	n/a
17	chr1:144340161-144340211	IMR90	lung:	fetal
18	chr1:144340103-144340153	PFSK-1	brain:	n/a
19	chr1:144340161-144340211	HRPEpiC	eye:	n/a
20	chr1:144340103-144340153	CMK	blood:	n/a
21	chr1:144340161-144340211	AG10803	skin:	n/a
22	chr1:144340161-144340211	SKMC	muscle:	n/a
23	chr1:144340161-144340211	HCPEpiC	choroid plexus:	n/a
24	chr1:144340161-144340211	MCF10A-Er-Src	breast:	n/a
25	chr1:144340103-144340153	HUVEC	blood vessel:	n/a
26	chr1:144340103-144340153	LNCaP	prostate:	n/a
27	chr1:144340161-144340211	HepG2	liver:	n/a
28	chr1:144340103-144340153	PANC-1	pancreas:	n/a
29	chr1:144340161-144340211	SAEC	small airway:	n/a
30	chr1:144340103-144340153	AG09319	gingival:	n/a
31	chr1:144340251-144340301	LNCaP	prostate:	n/a
32	chr1:144340161-144340211	HCT-116	colon:	n/a
33	chr1:144340103-144340153	AoSMC	blood vessel:	n/a
34	chr1:144340103-144340153	Hepatocyte	liver:	n/a
35	chr1:144340103-144340153	HAEpiC	amniotic membrane:	n/a
36	chr1:144340161-144340211	HEK293	kidney:	embryo
37	chr1:144340161-144340211	BJ	skin:	n/a
38	chr1:144340251-144340301	HAEpiC	amniotic membrane:	n/a
39	chr1:144340161-144340211	SK-N-SH	brain:	n/a
40	chr1:144340251-144340301	Jurkat	blood:	n/a
41	chr1:144340161-144340211	HCF	heart:	n/a
42	chr1:144340103-144340153	AG04449	skin:	fetal
43	chr1:144340161-144340211	HCM	heart:	n/a
44	chr1:144340251-144340301	NH-A	brain:	n/a
45	chr1:144340103-144340153	AG10803	skin:	n/a
46	chr1:144340161-144340211	NHBE	bronchial:	n/a
47	chr1:144340103-144340153	NH-A	brain:	n/a
48	chr1:144340251-144340301	ECC-1	luminal epithelium:	n/a
49	chr1:144340161-144340211	T-47D	breast:	n/a
50	chr1:144340161-144340211	GM12892	blood:	n/a

No data

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIAL4B-1	chr1:144339564-144339618	ENSG00000235398
2	lnc-PPIAL4B-1	chr1:144340526-144340754	ENSG00000235398
3	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
4	lnc-PPIAL4B-1	chr1:144341670-144341755	NONHSAT005782
5	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
6	lnc-PPIAL4B-1	chr1:144340526-144340623	NONHSAT005782
7	lnc-PPIAL4B-1	chr1:144336229-144336254	ENSG00000235398
8	lnc-PPIAL4B-1	chr1:144340851-144341057	ENSG00000235398.4
9	lnc-PPIAL4B-1	chr1:144340526-144340671	ENSG00000235398
10	lnc-PPIAL4B-1	chr1:144340526-144340736	ENSG00000235398
11	lnc-PPIAL4B-1	chr1:144340526-144340773	NR_109754
12	lnc-PPIAL4B-1	chr1:144340851-144341057	ENSG00000235398
13	lnc-PPIAL4B-1	chr1:144340526-144340623	NR_024584
14	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005781
15	lnc-PPIAL4B-3	chr1:144392143-144392429	NONHSAT005791
16	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398
17	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005780
18	lnc-PPIAL4B-1	chr1:144341670-144341756	ENSG00000235398.4
19	lnc-PPIAL4B-1	chr1:144340526-144340593	ENSG00000235398
20	lnc-PPIAL4B-1	chr1:144341670-144341755	NR_024584

No data

Variant related genes	Relation type
PPIAL4B	TF binding region
ENSG00000271223	TF binding region
ENSG00000231360	TF binding region
LINC00623	TF binding region
PPIAL4B	CpG island
ENSG00000271223	CpG island
ENSG00000231360	CpG island
LINC00623	CpG island

Extended variants
information (count: 54 )
Associated
traits (count: 168 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201195932	chr1:144334791-144334792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs202209485	chr1:144335131-144335132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200090338	chr1:144335208-144335209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200416746	chr1:144336074-144336075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201353151	chr1:144336164-144336165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201484278	chr1:144337466-144337467	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs587743208	chr1:144337567-144337568	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs587614002	chr1:144337594-144337595	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs61804356	chr1:144337818-144337819	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs587693897	chr1:144337988-144337989	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs587625787	chr1:144337993-144337994	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs111866509	chr1:144337999-144338000	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs201138341	chr1:144338380-144338381	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs201690167	chr1:144338584-144338585	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs539340	chr1:144338703-144338704	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs9441073	chr1:144339102-144339103	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs542980	chr1:144339105-144339106	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs9440986	chr1:144339159-144339160	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs9440985	chr1:144339186-144339187	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs11485949	chr1:144339361-144339362	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs199651624	chr1:144339401-144339402	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs587685832	chr1:144339850-144339851	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs368018584	chr1:144340115-144340116	Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs111624514	chr1:144340197-144340198	Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs28431188	chr1:144340472-144340473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs61804357	chr1:144340621-144340622	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs28493136	chr1:144340701-144340702	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs28652819	chr1:144340743-144340744	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs371714189	chr1:144340848-144340849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs2743772	chr1:144341727-144341728	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs9440984	chr1:144341836-144341837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs2743775	chr1:144341939-144341940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs9441071	chr1:144341954-144341955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs375162394	chr1:144343342-144343343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs369663924	chr1:144343471-144343472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs377061741	chr1:144343963-144343964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs587618969	chr1:144343987-144343988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200916128	chr1:144343992-144343993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs9441069	chr1:144344102-144344103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs2646888	chr1:144344300-144344301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs56267692	chr1:144344398-144344399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs9441064	chr1:144344490-144344491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs56196512	chr1:144344537-144344538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs373514435	chr1:144365796-144365797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs201361004	chr1:144365890-144365891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs202195564	chr1:144365901-144365902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs587665945	chr1:144365936-144365937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs370515220	chr1:144366214-144366215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs374462851	chr1:144366238-144366239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs659645	chr1:144367659-144367660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:168)

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
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	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
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	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
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Schizophrenia	19197363	CNVD
Dyslexia	22102821	CNVD
Autism	20808228	CNVD
Schizophrenia	19805367	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144339800-144340400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
2	chr1:144339800-144340400	Active TSS	Fetal Brain Female	brain
3	chr1:144339800-144340400	Active TSS	HMEC	breast
4	chr1:144340000-144340400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:144340000-144340400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:144340000-144340400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:144340000-144340400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:144340000-144340400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:144340000-144340400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:144340000-144340400	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr1:144340000-144340400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:144340000-144340400	Active TSS	Brain Germinal Matrix	brain
13	chr1:144340000-144340400	Active TSS	Placenta	Placenta
14	chr1:144340000-144340400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:144340000-144340400	Active TSS	Rectal Smooth Muscle	rectum
16	chr1:144340000-144340400	Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links