Variant report

Variant	esv16808
Chromosome Location	chr1:144274528-144401707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1243)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:44)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1243 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:144314152-144314409	GM12878	blood:	n/a	n/a
2	BATF	chr1:144326880-144327091	GM12878	blood:	n/a	n/a
3	BATF	chr1:144383148-144383357	GM12878	blood:	n/a	n/a
4	BATF	chr1:144379807-144380075	GM12878	blood:	n/a	n/a
5	BATF	chr1:144355376-144355716	GM12878	blood:	n/a	n/a
6	BATF	chr1:144321363-144321837	GM12878	blood:	n/a	n/a
7	BATF	chr1:144325736-144326116	GM12878	blood:	n/a	n/a
8	BATF	chr1:144341526-144342037	GM12878	blood:	n/a	n/a
9	BATF	chr1:144379834-144380086	GM12878	blood:	n/a	n/a
10	BATF	chr1:144327210-144327464	GM12878	blood:	n/a	n/a
11	BATF	chr1:144327848-144328102	GM12878	blood:	n/a	n/a
12	BATF	chr1:144335044-144335280	GM12878	blood:	n/a	n/a
13	BATF	chr1:144328809-144329030	GM12878	blood:	n/a	n/a
14	BATF	chr1:144310931-144311678	GM12878	blood:	n/a	n/a
15	BATF	chr1:144341397-144342307	GM12878	blood:	n/a	n/a
16	BATF	chr1:144393767-144394272	GM12878	blood:	n/a	chr1:144393981-144393992 chr1:144394139-144394149
17	BATF	chr1:144340377-144340881	GM12878	blood:	n/a	n/a
18	BATF	chr1:144338647-144338871	GM12878	blood:	n/a	n/a
19	BATF	chr1:144333842-144334072	GM12878	blood:	n/a	n/a
20	BATF	chr1:144335102-144335314	GM12878	blood:	n/a	n/a
21	BATF	chr1:144312324-144312589	GM12878	blood:	n/a	n/a
22	BATF	chr1:144336769-144337135	GM12878	blood:	n/a	n/a
23	BATF	chr1:144393889-144394266	GM12878	blood:	n/a	chr1:144393981-144393992 chr1:144394139-144394149
24	BATF	chr1:144389062-144389424	GM12878	blood:	n/a	chr1:144389254-144389265
25	BATF	chr1:144339109-144341237	GM12878	blood:	n/a	n/a
26	BATF	chr1:144333140-144333410	GM12878	blood:	n/a	n/a
27	BATF	chr1:144383897-144384409	GM12878	blood:	n/a	n/a
28	BATF	chr1:144384899-144385095	GM12878	blood:	n/a	n/a
29	BATF	chr1:144320981-144321799	GM12878	blood:	n/a	chr1:144321317-144321326
30	BATF	chr1:144339194-144339724	GM12878	blood:	n/a	n/a
31	BATF	chr1:144389055-144389404	GM12878	blood:	n/a	chr1:144389254-144389265
32	BATF	chr1:144310715-144311748	GM12878	blood:	n/a	n/a
33	BATF	chr1:144383867-144384453	GM12878	blood:	n/a	n/a
34	BATF	chr1:144322789-144323057	GM12878	blood:	n/a	n/a
35	BATF	chr1:144343242-144343436	GM12878	blood:	n/a	n/a
36	BATF	chr1:144355401-144355740	GM12878	blood:	n/a	n/a
37	BATF	chr1:144383148-144383389	GM12878	blood:	n/a	n/a
38	BATF	chr1:144328845-144329056	GM12878	blood:	n/a	n/a
39	BATF	chr1:144309943-144310144	GM12878	blood:	n/a	n/a
40	BCL11A	chr1:144343226-144343500	GM12878	blood:	n/a	n/a
41	BCL11A	chr1:144389063-144389405	GM12878	blood:	n/a	n/a
42	BCL11A	chr1:144383884-144384348	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:144337966-144338252	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:144383132-144383364	GM12878	blood:	n/a	n/a
45	BCL11A	chr1:144346853-144347032	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:144389051-144389364	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:144310610-144311577	GM12878	blood:	n/a	chr1:144311394-144311403
48	BCL11A	chr1:144393764-144394277	GM12878	blood:	n/a	chr1:144394141-144394150
49	BCL11A	chr1:144322758-144322986	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:144314194-144314432	GM12878	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	chr1:144340251-144340301	PrEC	prostate:	n/a
2	chr1:144340251-144340301	AG10803	skin:	n/a
3	chr1:144340103-144340153	MCF10A-Er-Src	breast:	n/a
4	chr1:144340161-144340211	HCM	heart:	n/a
5	chr1:144340251-144340301	ECC-1	luminal epithelium:	n/a
6	chr1:144340251-144340301	CMK	blood:	n/a
7	chr1:144340251-144340301	SK-N-SH	brain:	n/a
8	chr1:144340103-144340153	Caco-2	colon:	n/a
9	chr1:144340161-144340211	HEK293	kidney:	embryo
10	chr1:144340103-144340153	HCT-116	colon:	n/a
11	chr1:144340251-144340301	NB4	blood:	n/a
12	chr1:144340161-144340211	BE2_C	brain:	n/a
13	chr1:144340161-144340211	HepG2	liver:	n/a
14	chr1:144340251-144340301	NHBE	bronchial:	n/a
15	chr1:144340161-144340211	GM06990	blood:	n/a
16	chr1:144340251-144340301	SK-N-MC	brain:	n/a
17	chr1:144340251-144340301	GM12878	blood:	n/a
18	chr1:144340161-144340211	HCF	heart:	n/a
19	chr1:144340161-144340211	HCT-116	colon:	n/a
20	chr1:144340251-144340301	NHDF-neo	bronchial:	n/a
21	chr1:144340251-144340301	HMEC	breast:	n/a
22	chr1:144340161-144340211	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:144340161-144340211	SK-N-SH_RA	brain:	n/a
24	chr1:144340103-144340153	GM12892	blood:	n/a
25	chr1:144340103-144340153	SK-N-SH	brain:	n/a
26	chr1:144340103-144340153	AG04449	skin:	fetal
27	chr1:144340103-144340153	T-47D	breast:	n/a
28	chr1:144340161-144340211	ECC-1	luminal epithelium:	n/a
29	chr1:144340161-144340211	AG09309	skin:	n/a
30	chr1:144340251-144340301	SAEC	small airway:	n/a
31	chr1:144340103-144340153	BE2_C	brain:	n/a
32	chr1:144340251-144340301	HNPCEpiC	eye:	n/a
33	chr1:144340103-144340153	BJ	skin:	n/a
34	chr1:144340161-144340211	PANC-1	pancreas:	n/a
35	chr1:144340161-144340211	SAEC	small airway:	n/a
36	chr1:144340103-144340153	A549	lung:	n/a
37	chr1:144340251-144340301	MCF10A-Er-Src	breast:	n/a
38	chr1:144340251-144340301	PANC-1	pancreas:	n/a
39	chr1:144340103-144340153	GM06990	blood:	n/a
40	chr1:144340161-144340211	T-47D	breast:	n/a
41	chr1:144340103-144340153	ProgFib	skin:	n/a
42	chr1:144340103-144340153	AG04450	lung:	fetal
43	chr1:144340103-144340153	PFSK-1	brain:	n/a
44	chr1:144340103-144340153	HRPEpiC	eye:	n/a
45	chr1:144340251-144340301	GM12891	blood:	n/a
46	chr1:144340161-144340211	GM12878	blood:	n/a
47	chr1:144340251-144340301	GM06990	blood:	n/a
48	chr1:144340161-144340211	BJ	skin:	n/a
49	chr1:144340251-144340301	IMR90	lung:	fetal
50	chr1:144340161-144340211	ovcar-3	ovarian:	n/a

No data

(count:44 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIAL4B-1	chr1:144300512-144301536	NONHSAT005781
2	lnc-PPIAL4B-1	chr1:144341670-144341755	NR_024584
3	lnc-PPIAL4B-1	chr1:144301190-144301536	NONHSAT005782
4	lnc-PPIAL4B-1	chr1:144281066-144281169	ENSG00000235398
5	lnc-PPIAL4B-1	chr1:144326026-144326185	ENSG00000235398
6	lnc-PPIAL4B-1	chr1:144301326-144301536	ENSG00000235398.4
7	lnc-PPIAL4B-1	chr1:144325839-144326185	ENSG00000235398
8	lnc-PPIAL4B-1	chr1:144340526-144340754	ENSG00000235398
9	lnc-PPIAL4B-1	chr1:144340526-144340623	NONHSAT005782
10	lnc-PPIAL4B-1	chr1:144325552-144325673	ENSG00000235398
11	lnc-PPIAL4B-3	chr1:144392143-144392429	NONHSAT005791
12	lnc-PPIAL4B-1	chr1:144300512-144300755	ENSG00000235398
13	lnc-PPIAL4B-1	chr1:144300514-144300755	NONHSAT005782
14	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005780
15	lnc-PPIAL4B-1	chr1:144300512-144300755	NR_109754
16	lnc-PPIAL4B-1	chr1:144326026-144326185	ENSG00000235398
17	lnc-PPIAL4B-1	chr1:144340851-144341057	ENSG00000235398.4
18	lnc-PPIAL4B-1	chr1:144301190-144301536	ENSG00000235398
19	lnc-PPIAL4B-4	chr1:144297622-144297896	expRegAs_chr1_13930_-
20	lnc-PPIAL4B-1	chr1:144339564-144339618	ENSG00000235398
21	lnc-PPIAL4B-1	chr1:144300512-144300755	NONHSAT005780
22	lnc-PPIAL4B-1	chr1:144340526-144340671	ENSG00000235398
23	lnc-PPIAL4B-1	chr1:144301398-144301536	ENSG00000235398.4
24	lnc-PPIAL4B-1	chr1:144301325-144301536	ENSG00000235398
25	lnc-PPIAL4B-1	chr1:144341670-144341756	ENSG00000235398.4
26	lnc-PPIAL4B-1	chr1:144300517-144300755	NR_024584
27	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005781
28	lnc-RP3-377D14.1.1-10	chr1:144401304-144401978	expReg_chr1_15531_+
29	lnc-PPIAL4B-1	chr1:144340851-144341057	ENSG00000235398
30	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398
31	lnc-PPIAL4B-1	chr1:144301350-144301536	NR_109754
32	lnc-PPIAL4B-1	chr1:144300515-144301536	ENSG00000235398
33	lnc-PPIAL4B-1	chr1:144336229-144336254	ENSG00000235398
34	lnc-PPIAL4B-1	chr1:144341670-144341755	NONHSAT005782
35	lnc-PPIAL4B-1	chr1:144280730-144280868	ENSG00000235398
36	lnc-PPIAL4B-1	chr1:144301190-144301536	NONHSAT005780
37	lnc-PPIAL4B-1	chr1:144340526-144340736	ENSG00000235398
38	lnc-PPIAL4B-1	chr1:144340526-144340593	ENSG00000235398
39	lnc-PPIAL4B-1	chr1:144340526-144340623	NR_024584
40	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
41	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
42	lnc-PPIAL4B-1	chr1:144280383-144280629	ENSG00000235398
43	lnc-PPIAL4B-1	chr1:144340526-144340773	NR_109754
44	lnc-PPIAL4B-1	chr1:144301190-144301536	NR_024584

No data

Variant related genes	Relation type
PPIAL4B	TF binding region
ENSG00000271223	TF binding region
RNVU1-4	TF binding region
ENSG00000231360	TF binding region
LINC00623	TF binding region
PPIAL4B	CpG island
ENSG00000271223	CpG island
RNVU1-4	CpG island
ENSG00000231360	CpG island
LINC00623	CpG island

Extended variants
information (count: 119 )
Associated
traits (count: 175 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs649425	chr1:144282013-144282014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs61802129	chr1:144282560-144282561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs61802130	chr1:144282706-144282707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs61802131	chr1:144282732-144282733	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs61802148	chr1:144287672-144287673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373668943	chr1:144300635-144300636	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs61802801	chr1:144301339-144301340	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs61802802	chr1:144301407-144301408	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs61802803	chr1:144301507-144301508	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs61802808	chr1:144302077-144302078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2935877	chr1:144302548-144302549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs200268599	chr1:144302655-144302656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376816473	chr1:144302656-144302657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs523540	chr1:144302714-144302715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs61802812	chr1:144302898-144302899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs587597496	chr1:144302932-144302933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs587675338	chr1:144302940-144302941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200850129	chr1:144303135-144303136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201079696	chr1:144303148-144303149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs199728053	chr1:144303152-144303153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201863885	chr1:144303194-144303195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200860329	chr1:144312229-144312230	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs56272357	chr1:144312484-144312485	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs55849489	chr1:144312497-144312498	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs587660827	chr1:144312536-144312537	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs587768167	chr1:144312588-144312589	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs587619470	chr1:144312616-144312617	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs141984405	chr1:144312681-144312682	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs149721412	chr1:144312688-144312689	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs56264333	chr1:144312888-144312889	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs61802857	chr1:144313447-144313448	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs11485953	chr1:144313519-144313520	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs61802858	chr1:144313525-144313526	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs61802859	chr1:144313583-144313584	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs61804260	chr1:144313650-144313651	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs61804261	chr1:144313729-144313730	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs61804262	chr1:144313824-144313825	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs61804263	chr1:144313827-144313828	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs3009808	chr1:144313998-144313999	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs202205498	chr1:144314045-144314046	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs112229692	chr1:144314452-144314453	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs587701018	chr1:144314475-144314476	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs376742606	chr1:144314632-144314633	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs28678660	chr1:144314732-144314733	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs28688066	chr1:144314829-144314830	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs375997492	chr1:144315211-144315212	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs373613151	chr1:144315269-144315270	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs587758416	chr1:144315281-144315282	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs587650136	chr1:144315305-144315306	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs370597155	chr1:144315307-144315308	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:175)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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