Variant report

Variant	esv1799165
Chromosome Location	chr3:133959746-133973731
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	ARID3A	chr3:133969054-133969120	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:133969629-133969983	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:133961597-133961797	HepG2	liver:	n/a	n/a
4	BACH1	chr3:133969712-133970099	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr3:133968690-133969026	GM12878	blood:	n/a	n/a
6	BHLHE40	chr3:133969581-133969850	GM12878	blood:	n/a	chr3:133969655-133969671 chr3:133969583-133969599
7	BHLHE40	chr3:133969724-133969911	K562	blood:	n/a	n/a
8	BRCA1	chr3:133969220-133969279	HepG2	liver:	n/a	n/a
9	BRCA1	chr3:133969713-133970025	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr3:133965512-133965818	K562	blood:	n/a	n/a
11	CCNT2	chr3:133968957-133970062	K562	blood:	n/a	chr3:133969152-133969161
12	CEBPB	chr3:133970531-133971120	HepG2	liver:	n/a	n/a
13	CEBPB	chr3:133965905-133966190	A549	lung:	n/a	n/a
14	CEBPB	chr3:133969767-133970076	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr3:133961556-133961886	A549	lung:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
16	CEBPB	chr3:133961558-133961951	ECC-1	luminal epithelium:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
17	CEBPB	chr3:133969777-133970150	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr3:133969823-133970097	A549	lung:	n/a	n/a
19	CEBPB	chr3:133961602-133961862	H1-hESC	embryonic stem cell:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
20	CEBPB	chr3:133961651-133961784	K562	blood:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
21	CEBPB	chr3:133961512-133961931	HepG2	liver:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
22	CEBPB	chr3:133961542-133961906	HepG2	liver:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
23	CEBPB	chr3:133965866-133966197	HepG2	liver:	n/a	n/a
24	CEBPB	chr3:133961553-133961887	K562	blood:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
25	CEBPB	chr3:133970621-133971116	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr3:133961430-133961965	ECC-1	luminal epithelium:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
27	CEBPB	chr3:133969880-133970152	K562	blood:	n/a	n/a
28	CEBPB	chr3:133961593-133961841	HepG2	liver:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
29	CEBPB	chr3:133961473-133962019	MCF-7	breast:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
30	CEBPB	chr3:133961364-133962118	HCT-116	colon:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
31	CEBPB	chr3:133961554-133961984	A549	lung:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
32	CEBPB	chr3:133970524-133970877	K562	blood:	n/a	n/a
33	CEBPB	chr3:133961514-133961945	IMR90	lung:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
34	CEBPB	chr3:133969792-133970177	IMR90	lung:	n/a	n/a
35	CEBPB	chr3:133961540-133961929	A549	lung:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
36	CEBPB	chr3:133970534-133970850	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr3:133969772-133970167	MCF-7	breast:	n/a	n/a
38	CEBPB	chr3:133970585-133970828	A549	lung:	n/a	n/a
39	CEBPB	chr3:133961327-133962201	HCT-116	colon:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
40	CEBPB	chr3:133961536-133961921	K562	blood:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
41	CEBPB	chr3:133961497-133962053	MCF-7	breast:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
42	CEBPB	chr3:133965920-133966161	K562	blood:	n/a	n/a
43	CEBPB	chr3:133969818-133970104	HepG2	liver:	n/a	n/a
44	CEBPB	chr3:133961255-133962088	Hela-S3	cervix:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
45	CEBPB	chr3:133969603-133970155	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr3:133971674-133971952	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr3:133970544-133970756	K562	blood:	n/a	n/a
48	CEBPB	chr3:133961537-133961923	HepG2	liver:	n/a	chr3:133961725-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961736 chr3:133961727-133961738
49	CEBPD	chr3:133961532-133961906	K562	blood:	n/a	chr3:133961726-133961737 chr3:133961727-133961736
50	CEBPD	chr3:133961576-133961797	HepG2	liver:	n/a	chr3:133961726-133961737 chr3:133961727-133961736

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133969921-133969971	NB4	blood:	n/a
2	chr3:133962408-133962458	AG09309	skin:	n/a
3	chr3:133969921-133969971	NB4	blood:	n/a
4	chr3:133962408-133962458	AG09309	skin:	n/a
5	chr3:133970158-133970208	Hepatocyte	liver:	n/a
6	chr3:133969278-133969328	K562	blood:	n/a
7	chr3:133969914-133969964	NH-A	brain:	n/a
8	chr3:133962408-133962458	IMR90	lung:	fetal
9	chr3:133969921-133969971	NHDF-neo	bronchial:	n/a
10	chr3:133969278-133969328	ProgFib	skin:	n/a
11	chr3:133969278-133969328	HNPCEpiC	eye:	n/a
12	chr3:133969921-133969971	H1-hESC	embryonic stem cell:	embryo
13	chr3:133969921-133969971	CMK	blood:	n/a
14	chr3:133973256-133973306	HNPCEpiC	eye:	n/a
15	chr3:133969921-133969971	NHBE	bronchial:	n/a
16	chr3:133973256-133973306	HCPEpiC	choroid plexus:	n/a
17	chr3:133969278-133969328	SK-N-SH_RA	brain:	n/a
18	chr3:133962408-133962458	BJ	skin:	n/a
19	chr3:133969591-133969641	U87	brain:	n/a
20	chr3:133970158-133970208	HMEC	breast:	n/a
21	chr3:133969921-133969971	PANC-1	pancreas:	n/a
22	chr3:133962408-133962458	Caco-2	colon:	n/a
23	chr3:133969278-133969328	AG09309	skin:	n/a
24	chr3:133970158-133970208	BE2_C	brain:	n/a
25	chr3:133973256-133973306	ovcar-3	ovarian:	n/a
26	chr3:133970158-133970208	Hela-S3	cervix:	n/a
27	chr3:133969591-133969641	NH-A	brain:	n/a
28	chr3:133973256-133973306	NT2-D1	testis:	n/a
29	chr3:133970158-133970208	NHBE	bronchial:	n/a
30	chr3:133969278-133969328	CMK	blood:	n/a
31	chr3:133969591-133969641	MCF-7	breast:	n/a
32	chr3:133973256-133973306	HepG2	liver:	n/a
33	chr3:133968920-133968970	AoSMC	blood vessel:	n/a
34	chr3:133962408-133962458	SK-N-SH_RA	brain:	n/a
35	chr3:133969914-133969964	GM12891	blood:	n/a
36	chr3:133969058-133969108	NB4	blood:	n/a
37	chr3:133962408-133962458	NB4	blood:	n/a
38	chr3:133969914-133969964	GM12878	blood:	n/a
39	chr3:133973256-133973306	HRE	kidney:	n/a
40	chr3:133969278-133969328	U87	brain:	n/a
41	chr3:133969591-133969641	HL-60	blood:	n/a
42	chr3:133969921-133969971	Jurkat	blood:	n/a
43	chr3:133969914-133969964	BJ	skin:	n/a
44	chr3:133969278-133969328	HAEpiC	amniotic membrane:	n/a
45	chr3:133969278-133969328	HMEC	breast:	n/a
46	chr3:133969278-133969328	HepG2	liver:	n/a
47	chr3:133968920-133968970	GM12892	blood:	n/a
48	chr3:133968920-133968970	AG10803	skin:	n/a
49	chr3:133969591-133969641	GM06990	blood:	n/a
50	chr3:133969591-133969641	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:133961848..133963508-chr3:133970974..133972912,2	K562	blood:
2	chr3:133968058..133969986-chr3:134093152..134094854,2	MCF-7	breast:
3	chr12:15942011..15942548-chr3:133969611..133970273,2	Hela-S3	cervix:
4	chr3:133961848..133963508-chr3:133970974..133972912,2	K562	blood:
5	chr3:133955309..133957526-chr3:133961542..133964023,3	K562	blood:
6	chr3:133971742..133973681-chr3:133989273..133991521,2	MCF-7	breast:
7	chr3:133969091..133969747-chr7:35839773..35840580,2	Hela-S3	cervix:
8	chr3:133946454..133948337-chr3:133962958..133965127,2	K562	blood:
9	chr3:133925826..133929174-chr3:133972868..133975223,3	MCF-7	breast:
10	chr3:133969328..133972317-chr3:134030794..134032589,3	MCF-7	breast:
11	chr19:10206614..10207226-chr3:133969204..133969782,2	NB4	blood:
12	chr3:133966207..133969204-chr3:134075829..134077344,2	MCF-7	breast:
13	chr3:133958163..133961151-chr3:133961211..133962762,2	K562	blood:
14	chr3:133959513..133961967-chr3:133961988..133964183,2	MCF-7	breast:
15	chr3:133969194..133969719-chr3:136470769..136471350,2	Hela-S3	cervix:
16	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:
17	chr12:102091137..102092560-chr3:133969061..133970004,4	Hela-S3	cervix:
18	chr3:133959513..133961967-chr3:133961988..133964183,2	MCF-7	breast:
19	chr3:22413816..22414336-chr3:133969155..133969870,2	HCT-116	colon:
20	chr3:133969506..133971460-chr3:134202147..134204798,2	K562	blood:
21	chr3:133970945..133973560-chr3:133978440..133980451,2	MCF-7	breast:
22	chr3:133969851..133972992-chr3:133976680..133979913,3	K562	blood:
23	chr3:133958163..133961151-chr3:133961211..133962762,2	K562	blood:
24	chr3:133969854..133971498-chr3:134203715..134206373,2	K562	blood:
25	chr3:133965027..133966647-chr3:134091891..134094278,2	MCF-7	breast:
26	chr3:133970115..133972265-chr3:133986843..133989271,2	MCF-7	breast:
27	chr3:133967100..133970573-chr3:133973529..133976629,4	MCF-7	breast:
28	chr3:133960747..133964572-chr3:133967986..133970740,5	MCF-7	breast:
29	chr3:133970647..133972912-chr3:133975711..133978069,2	MCF-7	breast:
30	chr3:133959235..133962152-chr3:133965404..133967966,3	K562	blood:
31	chr3:133966982..133969357-chr3:134203200..134205519,3	MCF-7	breast:
32	chr3:133959235..133962152-chr3:133965404..133967966,3	K562	blood:

Variant related genes	Relation type
RYK	TF binding region
RYK	CpG island
ENSG00000130812	chromatin interactions
ENSG00000182923	chromatin interactions
ENSG00000114019	chromatin interactions
ENSG00000228878	chromatin interactions
ENSG00000151789	chromatin interactions
ENSG00000151491	chromatin interactions
ENSG00000163785	chromatin interactions
ENSG00000118007	chromatin interactions
ENSG00000214289	chromatin interactions
ENSG00000129055	chromatin interactions
ENSG00000111666	chromatin interactions
ENSG00000260633	chromatin interactions
ENSG00000240006	chromatin interactions
ENSG00000122545	chromatin interactions

Extended variants
information (count: 513 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6796404	chr3:133959746-133959747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569423521	chr3:133959761-133959762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142397642	chr3:133959774-133959775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558345535	chr3:133959801-133959802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188874199	chr3:133959874-133959875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557599616	chr3:133959877-133959878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539514975	chr3:133959929-133959930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552825288	chr3:133959940-133959941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530711375	chr3:133959944-133959945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374931876	chr3:133959947-133959948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111779517	chr3:133959950-133959951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541432032	chr3:133959958-133959959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373536370	chr3:133959987-133959988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555344761	chr3:133959998-133959999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34101853	chr3:133960017-133960018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397944073	chr3:133960033-133960034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575155343	chr3:133960052-133960053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544141820	chr3:133960066-133960067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563936480	chr3:133960070-133960071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193108995	chr3:133960109-133960110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556245785	chr3:133960138-133960139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560352280	chr3:133960160-133960161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375305361	chr3:133960193-133960194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529413596	chr3:133960202-133960203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80024912	chr3:133960205-133960206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200499882	chr3:133960252-133960253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs66690771	chr3:133960257-133960258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182858230	chr3:133960360-133960361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187538339	chr3:133960393-133960394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552127951	chr3:133960432-133960433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549166716	chr3:133960537-133960538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374716950	chr3:133960538-133960539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs118023655	chr3:133960583-133960584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534354126	chr3:133960597-133960598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140690716	chr3:133960607-133960608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145648707	chr3:133960633-133960634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535545493	chr3:133960640-133960641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555057929	chr3:133960746-133960747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377006022	chr3:133960768-133960769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576345694	chr3:133960844-133960845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371362538	chr3:133960848-133960849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557665624	chr3:133960924-133960925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138183292	chr3:133960951-133960952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545271095	chr3:133961009-133961010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141202668	chr3:133961010-133961011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574012854	chr3:133961043-133961044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538494955	chr3:133961062-133961063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543150917	chr3:133961097-133961098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191601932	chr3:133961144-133961145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs138800728	chr3:133961145-133961146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:1034 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133930200-133968000	Weak transcription	Fetal Kidney	kidney
2	chr3:133941000-133961600	Weak transcription	Esophagus	oesophagus
3	chr3:133941400-133967400	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:133943400-133961800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:133950600-133961800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:133951200-133960600	Weak transcription	Thymus	Thymus
7	chr3:133951200-133966800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:133952000-133960400	Weak transcription	Hela-S3	cervix
9	chr3:133952200-133965400	Weak transcription	Dnd41	blood
10	chr3:133953200-133959800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:133953200-133967800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:133953400-133966800	Weak transcription	Brain Angular Gyrus	brain
13	chr3:133954600-133960000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:133954600-133960600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr3:133954600-133961600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:133954800-133959800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:133954800-133962400	Weak transcription	Colonic Mucosa	Colon
18	chr3:133955000-133961800	Weak transcription	Aorta	Aorta
19	chr3:133955000-133962000	Weak transcription	Fetal Intestine Large	intestine
20	chr3:133955200-133960400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:133955200-133961600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:133955600-133961800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:133955600-133963200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:133955800-133961400	Weak transcription	NH-A	brain
25	chr3:133956000-133964400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:133956400-133961400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:133956400-133964800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:133956600-133961400	Weak transcription	HSMM	muscle
29	chr3:133956600-133961600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:133956600-133961600	Weak transcription	Fetal Intestine Small	intestine
31	chr3:133956600-133963200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:133957200-133961200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:133957200-133963200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:133957200-133964600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:133957400-133961200	Weak transcription	Osteobl	bone
36	chr3:133957400-133961400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:133957400-133961600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:133957400-133961600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:133957400-133961800	Weak transcription	Fetal Lung	lung
40	chr3:133957400-133962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:133957600-133960400	Weak transcription	Fetal Heart	heart
42	chr3:133957600-133960400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:133957600-133961600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr3:133957600-133961600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:133957600-133961800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr3:133957600-133962400	Weak transcription	Brain Anterior Caudate	brain
47	chr3:133957600-133967000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:133957600-133968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:133957600-133968000	Weak transcription	Fetal Stomach	stomach
50	chr3:133957800-133961400	Enhancers	HMEC	breast

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