Variant report

Variant	esv3399835
Chromosome Location	chr19:42787212-42789685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:540)
CpG islands
(count:366)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr19:42787227-42787993	GM12878	blood:	n/a	n/a
2	ATF2	chr19:42787616-42787880	GM12878	blood:	n/a	n/a
3	ATF3	chr19:42788430-42788681	K562	blood:	n/a	n/a
4	ATF3	chr19:42787085-42787951	A549	lung:	n/a	n/a
5	BACH1	chr19:42787588-42788270	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr19:42788946-42789034	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr19:42787212-42787922	K562	blood:	n/a	n/a
8	BCL3	chr19:42787345-42788075	A549	lung:	n/a	n/a
9	BCL3	chr19:42783261-42788037	A549	lung:	n/a	chr19:42784292-42784305 chr19:42784099-42784112 chr19:42785738-42785746 chr19:42785147-42785160 chr19:42784294-42784303 chr19:42784104-42784113 chr19:42784556-42784569
10	BCL3	chr19:42788764-42791111	A549	lung:	n/a	chr19:42790126-42790135 chr19:42788787-42788800 chr19:42789902-42789911 chr19:42789870-42789879
11	BCLAF1	chr19:42787182-42787829	GM12878	blood:	n/a	n/a
12	BHLHE40	chr19:42789060-42789378	K562	blood:	n/a	n/a
13	BHLHE40	chr19:42788364-42788717	K562	blood:	n/a	n/a
14	BHLHE40	chr19:42787310-42787954	K562	blood:	n/a	n/a
15	BHLHE40	chr19:42788998-42789304	GM12878	blood:	n/a	n/a
16	BHLHE40	chr19:42787223-42788737	GM12878	blood:	n/a	n/a
17	BHLHE40	chr19:42788293-42788691	HepG2	liver:	n/a	n/a
18	CBX3	chr19:42787175-42787999	K562	blood:	n/a	n/a
19	CCNT2	chr19:42787382-42789025	K562	blood:	n/a	n/a
20	CEBPB	chr19:42787406-42787983	GM12878	blood:	n/a	n/a
21	CEBPD	chr19:42787807-42787999	HepG2	liver:	n/a	n/a
22	CEBPD	chr19:42788398-42788678	HepG2	liver:	n/a	n/a
23	CEBPD	chr19:42787740-42788806	HepG2	liver:	n/a	n/a
24	CHD1	chr19:42787693-42788006	GM12878	blood:	n/a	n/a
25	CHD1	chr19:42788271-42788461	GM12878	blood:	n/a	n/a
26	CHD2	chr19:42787685-42788609	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr19:42787316-42788497	GM12878	blood:	n/a	n/a
28	CHD2	chr19:42787913-42787946	HepG2	liver:	n/a	n/a
29	CHD2	chr19:42787754-42787925	K562	blood:	n/a	n/a
30	CHD2	chr19:42788169-42788371	HepG2	liver:	n/a	n/a
31	CHD2	chr19:42788317-42788364	K562	blood:	n/a	n/a
32	CREB1	chr19:42787844-42788162	ECC-1	luminal epithelium:	n/a	n/a
33	CREB1	chr19:42787895-42788214	A549	lung:	n/a	n/a
34	CREB1	chr19:42787192-42789325	HepG2	liver:	n/a	n/a
35	CREB1	chr19:42787192-42788833	K562	blood:	n/a	n/a
36	CREB1	chr19:42787112-42788782	GM12878	blood:	n/a	n/a
37	CREB1	chr19:42787487-42788999	A549	lung:	n/a	n/a
38	CTCF	chr19:42787920-42787931	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr19:42787839-42787924	GM10266	blood:	n/a	n/a
40	CTCF	chr19:42787834-42787982	MCF-7	breast:	n/a	n/a
41	CTCF	chr19:42787780-42787930	GM12873	blood:	n/a	n/a
42	CTCF	chr19:42787840-42787990	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr19:42787854-42787968	NHEK	skin:	n/a	n/a
44	CTCF	chr19:42787658-42788103	K562	blood:	n/a	n/a
45	CTCF	chr19:42787820-42787970	GM12878	blood:	n/a	n/a
46	CTCF	chr19:42787832-42787982	GM19240	blood:	n/a	n/a
47	CTCF	chr19:42787254-42787982	GM19239	blood:	n/a	n/a
48	CTCF	chr19:42787860-42788010	GM12864	blood:	n/a	n/a
49	CTCF	chr19:42787370-42787388	GM12892	blood:	n/a	n/a
50	CTCF	chr19:42787824-42787979	HepG2	liver:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42787762-42787812	K562	blood:	n/a
2	chr19:42788966-42789016	HAEpiC	amniotic membrane:	n/a
3	chr19:42788257-42788307	U87	brain:	n/a
4	chr19:42787174-42787224	AG04450	lung:	fetal
5	chr19:42787174-42787224	HEK293	kidney:	embryo
6	chr19:42787762-42787812	SKMC	muscle:	n/a
7	chr19:42788848-42788898	NHBE	bronchial:	n/a
8	chr19:42788848-42788898	MCF-7	breast:	n/a
9	chr19:42788848-42788898	HMEC	breast:	n/a
10	chr19:42788248-42788298	MCF10A-Er-Src	breast:	n/a
11	chr19:42788848-42788898	T-47D	breast:	n/a
12	chr19:42788848-42788898	HL-60	blood:	n/a
13	chr19:42788966-42789016	NHDF-neo	bronchial:	n/a
14	chr19:42787762-42787812	PFSK-1	brain:	n/a
15	chr19:42788257-42788307	HAEpiC	amniotic membrane:	n/a
16	chr19:42787762-42787812	NHDF-neo	bronchial:	n/a
17	chr19:42788257-42788307	CMK	blood:	n/a
18	chr19:42788848-42788898	HEK293	kidney:	embryo
19	chr19:42788848-42788898	HNPCEpiC	eye:	n/a
20	chr19:42788257-42788307	BJ	skin:	n/a
21	chr19:42787762-42787812	ovcar-3	ovarian:	n/a
22	chr19:42787762-42787812	GM12891	blood:	n/a
23	chr19:42787174-42787224	ECC-1	luminal epithelium:	n/a
24	chr19:42788966-42789016	HUVEC	blood vessel:	n/a
25	chr19:42788257-42788307	AG04450	lung:	fetal
26	chr19:42788966-42789016	HL-60	blood:	n/a
27	chr19:42787174-42787224	HMEC	breast:	n/a
28	chr19:42788966-42789016	HRCEpiC	kidney:	n/a
29	chr19:42787174-42787224	NHBE	bronchial:	n/a
30	chr19:42787174-42787224	RPTEC	kidney:	n/a
31	chr19:42788966-42789016	K562	blood:	n/a
32	chr19:42788257-42788307	AoSMC	blood vessel:	n/a
33	chr19:42787762-42787812	Caco-2	colon:	n/a
34	chr19:42788966-42789016	T-47D	breast:	n/a
35	chr19:42787174-42787224	GM19239	blood:	n/a
36	chr19:42787174-42787224	PrEC	prostate:	n/a
37	chr19:42788848-42788898	AG09319	gingival:	n/a
38	chr19:42788966-42789016	CMK	blood:	n/a
39	chr19:42788966-42789016	AG09319	gingival:	n/a
40	chr19:42788966-42789016	BE2_C	brain:	n/a
41	chr19:42787174-42787224	A549	lung:	n/a
42	chr19:42788257-42788307	HRPEpiC	eye:	n/a
43	chr19:42788248-42788298	CMK	blood:	n/a
44	chr19:42788257-42788307	HPAEpiC	pulmonary alveolar:	n/a
45	chr19:42787762-42787812	HUVEC	blood vessel:	n/a
46	chr19:42787174-42787224	HUVEC	blood vessel:	n/a
47	chr19:42788966-42789016	PrEC	prostate:	n/a
48	chr19:42788248-42788298	Hepatocyte	liver:	n/a
49	chr19:42788257-42788307	ProgFib	skin:	n/a
50	chr19:42787174-42787224	MCF10A-Er-Src	breast:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42785237..42787439-chr19:42898347..42900741,2	K562	blood:
2	chr19:42786310..42789274-chr8:144099903..144101921,2	MCF-7	breast:
3	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
4	chr19:42597900..42600761-chr19:42786384..42788492,2	K562	blood:
5	chr19:42598699..42600761-chr19:42786357..42787884,2	K562	blood:
6	chr19:42788053..42790658-chr19:42828603..42831088,2	MCF-7	breast:
7	chr19:42579405..42581484-chr19:42787067..42789919,2	K562	blood:
8	chr19:42788208..42790691-chr19:42829217..42832174,3	K562	blood:
9	chr19:42786293..42789026-chr19:42903312..42906811,3	MCF-7	breast:
10	chr19:42783298..42787362-chr19:42802681..42808039,8	MCF-7	breast:
11	chr12:49524528..49525157-chr19:42787936..42788663,3	Hela-S3	cervix:
12	chr19:42785454..42788191-chr19:42828272..42829778,2	K562	blood:
13	chr19:42787763..42791073-chr19:42804241..42808628,6	MCF-7	breast:
14	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
15	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:

No data

Variant related genes	Relation type
CIC	TF binding region
CIC	CpG island
ENSG00000028277	chromatin interactions
ENSG00000105429	chromatin interactions
ENSG00000105723	chromatin interactions
ENSG00000268643	chromatin interactions
ENSG00000213904	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000160932	chromatin interactions
ENSG00000188368	chromatin interactions
ENSG00000105732	chromatin interactions
ENSG00000079462	chromatin interactions
ENSG00000204957	chromatin interactions
ENSG00000258017	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545144025	chr19:42787238-42787239	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs193270537	chr19:42787262-42787263	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs563338447	chr19:42787330-42787331	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs559482548	chr19:42787377-42787378	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs530042226	chr19:42787392-42787393	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs548486330	chr19:42787435-42787436	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs73552881	chr19:42787490-42787491	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542343486	chr19:42787522-42787523	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs552366280	chr19:42787552-42787553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs138358776	chr19:42787603-42787604	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs202176890	chr19:42787646-42787647	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs3810148	chr19:42787664-42787665	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546622597	chr19:42787670-42787671	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs183643724	chr19:42787676-42787677	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs536988941	chr19:42787687-42787688	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs546203098	chr19:42787700-42787701	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs554823591	chr19:42787792-42787793	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs576302784	chr19:42787866-42787867	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs12978818	chr19:42787890-42787891	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs12980581	chr19:42787891-42787892	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs537265525	chr19:42787953-42787954	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs566728587	chr19:42788002-42788003	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs577311604	chr19:42788019-42788020	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs541154669	chr19:42788022-42788023	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs113888433	chr19:42788175-42788176	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs187522860	chr19:42788222-42788223	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs192042891	chr19:42788228-42788229	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs184104469	chr19:42788231-42788232	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs188458677	chr19:42788420-42788421	Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs561141658	chr19:42788481-42788482	Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs574718288	chr19:42788498-42788499	Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs542215918	chr19:42788719-42788720	Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs549556810	chr19:42788769-42788770	Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs369985055	chr19:42788835-42788836	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs563589724	chr19:42788844-42788845	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs530785646	chr19:42788851-42788852	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs371261157	chr19:42788910-42788911	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs374815992	chr19:42788941-42788942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs565197061	chr19:42788946-42788947	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs535810495	chr19:42788967-42788968	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs192606966	chr19:42788970-42788971	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs528232299	chr19:42789268-42789269	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs546364609	chr19:42789272-42789273	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs568077989	chr19:42789282-42789283	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs532669743	chr19:42789441-42789442	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs527290994	chr19:42789445-42789446	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs550129221	chr19:42789469-42789470	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs375446281	chr19:42789482-42789483	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs551303256	chr19:42789491-42789492	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs77232884	chr19:42789521-42789522	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42783600-42788000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:42785000-42787400	Enhancers	Liver	Liver
3	chr19:42785000-42787600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:42785200-42787400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:42785200-42787400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr19:42785200-42787400	Enhancers	Lung	lung
7	chr19:42785200-42787400	Enhancers	Pancreas	Pancrea
8	chr19:42785200-42787400	Enhancers	Stomach Mucosa	stomach
9	chr19:42785400-42787600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr19:42785400-42787800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:42785400-42787800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr19:42785400-42787800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:42785400-42787800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:42785400-42787800	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr19:42785400-42788000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:42785400-42788000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:42785400-42788000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:42785400-42788000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:42785400-42788000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr19:42785600-42787400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:42785600-42787400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:42785600-42787400	Enhancers	Primary T cells from cord blood	blood
23	chr19:42785600-42787400	Weak transcription	Ovary	ovary
24	chr19:42785600-42787600	Enhancers	Gastric	stomach
25	chr19:42785600-42787800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr19:42785600-42787800	Flanking Active TSS	HepG2	liver
27	chr19:42785600-42788000	Flanking Active TSS	Fetal Brain Female	brain
28	chr19:42785800-42787400	Enhancers	Placenta	Placenta
29	chr19:42785800-42787600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:42786000-42787400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:42786000-42787400	Enhancers	Fetal Thymus	thymus
32	chr19:42786000-42787400	Enhancers	HMEC	breast
33	chr19:42786000-42787600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:42786000-42787600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr19:42786200-42787400	Enhancers	Fetal Heart	heart
36	chr19:42786200-42787400	Enhancers	Fetal Intestine Large	intestine
37	chr19:42786200-42787400	Enhancers	Fetal Stomach	stomach
38	chr19:42786200-42787400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr19:42786200-42787400	Enhancers	Right Ventricle	heart
40	chr19:42786400-42787400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:42786400-42787400	Enhancers	Colon Smooth Muscle	Colon
42	chr19:42786400-42787400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr19:42786400-42787400	Enhancers	Fetal Intestine Small	intestine
44	chr19:42786400-42787400	Weak transcription	Psoas Muscle	Psoas
45	chr19:42786400-42787400	Enhancers	HUVEC	blood vessel
46	chr19:42786400-42787600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr19:42786600-42787400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr19:42786600-42787400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:42786600-42787400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:42786600-42787400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links