Variant report

Variant	nsv946229
Chromosome Location	chr1:144311634-144375115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:955)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:955 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:144355401-144355740	GM12878	blood:	n/a	n/a
2	BATF	chr1:144336769-144337135	GM12878	blood:	n/a	n/a
3	BATF	chr1:144327210-144327464	GM12878	blood:	n/a	n/a
4	BATF	chr1:144310931-144311678	GM12878	blood:	n/a	n/a
5	BATF	chr1:144326880-144327091	GM12878	blood:	n/a	n/a
6	BATF	chr1:144339109-144341237	GM12878	blood:	n/a	n/a
7	BATF	chr1:144314152-144314409	GM12878	blood:	n/a	n/a
8	BATF	chr1:144310715-144311748	GM12878	blood:	n/a	n/a
9	BATF	chr1:144325736-144326116	GM12878	blood:	n/a	n/a
10	BATF	chr1:144335102-144335314	GM12878	blood:	n/a	n/a
11	BATF	chr1:144328845-144329056	GM12878	blood:	n/a	n/a
12	BATF	chr1:144339194-144339724	GM12878	blood:	n/a	n/a
13	BATF	chr1:144335044-144335280	GM12878	blood:	n/a	n/a
14	BATF	chr1:144341397-144342307	GM12878	blood:	n/a	n/a
15	BATF	chr1:144320981-144321799	GM12878	blood:	n/a	chr1:144321317-144321326
16	BATF	chr1:144333140-144333410	GM12878	blood:	n/a	n/a
17	BATF	chr1:144321363-144321837	GM12878	blood:	n/a	n/a
18	BATF	chr1:144328809-144329030	GM12878	blood:	n/a	n/a
19	BATF	chr1:144322789-144323057	GM12878	blood:	n/a	n/a
20	BATF	chr1:144343242-144343436	GM12878	blood:	n/a	n/a
21	BATF	chr1:144333842-144334072	GM12878	blood:	n/a	n/a
22	BATF	chr1:144355376-144355716	GM12878	blood:	n/a	n/a
23	BATF	chr1:144340377-144340881	GM12878	blood:	n/a	n/a
24	BATF	chr1:144338647-144338871	GM12878	blood:	n/a	n/a
25	BATF	chr1:144327848-144328102	GM12878	blood:	n/a	n/a
26	BATF	chr1:144341526-144342037	GM12878	blood:	n/a	n/a
27	BATF	chr1:144312324-144312589	GM12878	blood:	n/a	n/a
28	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
29	BCL11A	chr1:144341448-144342159	GM12878	blood:	n/a	chr1:144341848-144341857 chr1:144342124-144342131
30	BCL11A	chr1:144346853-144347032	GM12878	blood:	n/a	n/a
31	BCL11A	chr1:144312312-144312566	GM12878	blood:	n/a	n/a
32	BCL11A	chr1:144314167-144314436	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:144321339-144321783	GM12878	blood:	n/a	n/a
34	BCL11A	chr1:144336247-144336448	GM12878	blood:	n/a	n/a
35	BCL11A	chr1:144321366-144321847	GM12878	blood:	n/a	n/a
36	BCL11A	chr1:144337966-144338252	GM12878	blood:	n/a	n/a
37	BCL11A	chr1:144320862-144321088	GM12878	blood:	n/a	n/a
38	BCL11A	chr1:144334777-144334967	GM12878	blood:	n/a	n/a
39	BCL11A	chr1:144333094-144333330	GM12878	blood:	n/a	n/a
40	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
41	BCL11A	chr1:144326934-144327192	GM12878	blood:	n/a	n/a
42	BCL11A	chr1:144328720-144329067	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:144320994-144321225	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:144331015-144331313	GM12878	blood:	n/a	n/a
45	BCL11A	chr1:144314194-144314432	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:144343226-144343500	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:144322758-144322986	GM12878	blood:	n/a	n/a
48	BHLHE40	chr1:144365400-144365775	HepG2	liver:	n/a	n/a
49	BHLHE40	chr1:144340285-144340772	HepG2	liver:	n/a	n/a
50	CBX3	chr1:144310851-144311819	K562	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	NH-A	brain:	n/a
2	chr1:144340103-144340153	ECC-1	luminal epithelium:	n/a
3	chr1:144340103-144340153	IMR90	lung:	fetal
4	chr1:144340161-144340211	H1-hESC	embryonic stem cell:	embryo
5	chr1:144340161-144340211	SKMC	muscle:	n/a
6	chr1:144340103-144340153	AG10803	skin:	n/a
7	chr1:144340251-144340301	AG04449	skin:	fetal
8	chr1:144340161-144340211	HEK293	kidney:	embryo
9	chr1:144340251-144340301	HRE	kidney:	n/a
10	chr1:144340161-144340211	ECC-1	luminal epithelium:	n/a
11	chr1:144340161-144340211	NT2-D1	testis:	n/a
12	chr1:144340251-144340301	AoSMC	blood vessel:	n/a
13	chr1:144340161-144340211	AoSMC	blood vessel:	n/a
14	chr1:144340251-144340301	HRPEpiC	eye:	n/a
15	chr1:144340103-144340153	Hepatocyte	liver:	n/a
16	chr1:144340251-144340301	HAEpiC	amniotic membrane:	n/a
17	chr1:144340251-144340301	ECC-1	luminal epithelium:	n/a
18	chr1:144340251-144340301	GM12891	blood:	n/a
19	chr1:144340161-144340211	Hela-S3	cervix:	n/a
20	chr1:144340161-144340211	HIPEpiC	eye:	n/a
21	chr1:144340103-144340153	SK-N-SH_RA	brain:	n/a
22	chr1:144340103-144340153	SKMC	muscle:	n/a
23	chr1:144340251-144340301	HEK293	kidney:	embryo
24	chr1:144340161-144340211	ProgFib	skin:	n/a
25	chr1:144340103-144340153	AG09309	skin:	n/a
26	chr1:144340103-144340153	HAEpiC	amniotic membrane:	n/a
27	chr1:144340103-144340153	NHBE	bronchial:	n/a
28	chr1:144340103-144340153	K562	blood:	n/a
29	chr1:144340103-144340153	HRPEpiC	eye:	n/a
30	chr1:144340161-144340211	HRCEpiC	kidney:	n/a
31	chr1:144340161-144340211	AG09309	skin:	n/a
32	chr1:144340251-144340301	BJ	skin:	n/a
33	chr1:144340161-144340211	HCM	heart:	n/a
34	chr1:144340161-144340211	HAEpiC	amniotic membrane:	n/a
35	chr1:144340161-144340211	U87	brain:	n/a
36	chr1:144340161-144340211	HCPEpiC	choroid plexus:	n/a
37	chr1:144340161-144340211	HepG2	liver:	n/a
38	chr1:144340251-144340301	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:144340251-144340301	PANC-1	pancreas:	n/a
40	chr1:144340103-144340153	NHDF-neo	bronchial:	n/a
41	chr1:144340103-144340153	ProgFib	skin:	n/a
42	chr1:144340103-144340153	PANC-1	pancreas:	n/a
43	chr1:144340103-144340153	MCF-7	breast:	n/a
44	chr1:144340103-144340153	A549	lung:	n/a
45	chr1:144340161-144340211	MCF-7	breast:	n/a
46	chr1:144340251-144340301	A549	lung:	n/a
47	chr1:144340251-144340301	HEEpiC	esophagus:	n/a
48	chr1:144340161-144340211	BE2_C	brain:	n/a
49	chr1:144340161-144340211	BJ	skin:	n/a
50	chr1:144340251-144340301	HNPCEpiC	eye:	n/a

No data

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIAL4B-1	chr1:144340526-144340623	NR_024584
2	lnc-PPIAL4B-1	chr1:144325839-144326185	ENSG00000235398
3	lnc-PPIAL4B-1	chr1:144340851-144341057	ENSG00000235398
4	lnc-PPIAL4B-1	chr1:144340526-144340754	ENSG00000235398
5	lnc-PPIAL4B-1	chr1:144341670-144341756	ENSG00000235398.4
6	lnc-PPIAL4B-1	chr1:144336229-144336254	ENSG00000235398
7	lnc-PPIAL4B-1	chr1:144340526-144340773	NR_109754
8	lnc-PPIAL4B-1	chr1:144325552-144325673	ENSG00000235398
9	lnc-PPIAL4B-1	chr1:144341670-144341755	NR_024584
10	lnc-PPIAL4B-1	chr1:144340526-144340623	NONHSAT005782
11	lnc-PPIAL4B-1	chr1:144340526-144340736	ENSG00000235398
12	lnc-PPIAL4B-1	chr1:144340851-144341057	ENSG00000235398.4
13	lnc-PPIAL4B-1	chr1:144340526-144340593	ENSG00000235398
14	lnc-PPIAL4B-1	chr1:144341670-144341755	NONHSAT005782
15	lnc-PPIAL4B-1	chr1:144326026-144326185	ENSG00000235398
16	lnc-PPIAL4B-1	chr1:144326026-144326185	ENSG00000235398
17	lnc-PPIAL4B-1	chr1:144340526-144340671	ENSG00000235398
18	lnc-PPIAL4B-1	chr1:144339564-144339618	ENSG00000235398
19	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398
20	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005781
21	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
22	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
23	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005780

No data

Variant related genes	Relation type
PPIAL4B	TF binding region
RNVU1-4	TF binding region
ENSG00000231360	TF binding region
LINC00623	TF binding region
PPIAL4B	CpG island
RNVU1-4	CpG island
ENSG00000231360	CpG island
LINC00623	CpG island

Extended variants
information (count: 93 )
Associated
traits (count: 168 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200860329	chr1:144312229-144312230	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs56272357	chr1:144312484-144312485	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs55849489	chr1:144312497-144312498	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs587660827	chr1:144312536-144312537	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs587768167	chr1:144312588-144312589	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs587619470	chr1:144312616-144312617	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs141984405	chr1:144312681-144312682	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs149721412	chr1:144312688-144312689	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs56264333	chr1:144312888-144312889	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs61802857	chr1:144313447-144313448	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs11485953	chr1:144313519-144313520	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs61802858	chr1:144313525-144313526	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs61802859	chr1:144313583-144313584	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs61804260	chr1:144313650-144313651	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs61804261	chr1:144313729-144313730	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs61804262	chr1:144313824-144313825	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs61804263	chr1:144313827-144313828	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs3009808	chr1:144313998-144313999	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs202205498	chr1:144314045-144314046	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs112229692	chr1:144314452-144314453	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs587701018	chr1:144314475-144314476	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs376742606	chr1:144314632-144314633	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs28678660	chr1:144314732-144314733	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs28688066	chr1:144314829-144314830	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs375997492	chr1:144315211-144315212	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs373613151	chr1:144315269-144315270	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs587758416	chr1:144315281-144315282	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs587650136	chr1:144315305-144315306	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs370597155	chr1:144315307-144315308	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs587657766	chr1:144315319-144315320	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs587745305	chr1:144315357-144315358	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs376482221	chr1:144315361-144315362	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs369126793	chr1:144315504-144315505	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs372065864	chr1:144315575-144315576	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs375290173	chr1:144315605-144315606	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs369688455	chr1:144315624-144315625	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs61804272	chr1:144316125-144316126	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs552730	chr1:144325642-144325643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs673523	chr1:144325646-144325647	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs142167365	chr1:144330275-144330276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201005464	chr1:144330307-144330308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587605379	chr1:144330357-144330358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77191803	chr1:144330376-144330377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201195932	chr1:144334791-144334792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs202209485	chr1:144335131-144335132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs200090338	chr1:144335208-144335209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs200416746	chr1:144336074-144336075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201353151	chr1:144336164-144336165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs201484278	chr1:144337466-144337467	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs587743208	chr1:144337567-144337568	Inactive region	TF binding region	2 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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Autism	20841430	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144312400-144312800	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr1:144312400-144312800	Enhancers	Fetal Thymus	thymus
3	chr1:144330200-144330400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:144339800-144340400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
5	chr1:144339800-144340400	Active TSS	Fetal Brain Female	brain
6	chr1:144339800-144340400	Active TSS	HMEC	breast
7	chr1:144340000-144340400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:144340000-144340400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:144340000-144340400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:144340000-144340400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:144340000-144340400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:144340000-144340400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:144340000-144340400	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr1:144340000-144340400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:144340000-144340400	Active TSS	Brain Germinal Matrix	brain
16	chr1:144340000-144340400	Active TSS	Placenta	Placenta
17	chr1:144340000-144340400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:144340000-144340400	Active TSS	Rectal Smooth Muscle	rectum
19	chr1:144340000-144340400	Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links