Variant report

Variant	esv3341332
Chromosome Location	chr5:37248220-37250768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:404)
CpG islands
(count:429)
Chromatin interactive
region (count:17)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:37249328-37249415	HepG2	liver:	n/a	n/a
2	ATF2	chr5:37249330-37249721	GM12878	blood:	n/a	n/a
3	BACH1	chr5:37249622-37249625	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr5:37249087-37249607	A549	lung:	n/a	chr5:37249490-37249503 chr5:37249563-37249572
5	BCLAF1	chr5:37248901-37249584	GM12878	blood:	n/a	chr5:37249490-37249503 chr5:37249563-37249572
6	BRCA1	chr5:37248654-37249941	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:37249235-37249336	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr5:37248702-37249800	Hela-S3	cervix:	n/a	n/a
9	CEBPD	chr5:37249224-37249794	HepG2	liver:	n/a	n/a
10	CHD1	chr5:37248813-37249206	GM12878	blood:	n/a	n/a
11	CHD1	chr5:37249215-37249393	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr5:37248652-37250257	Hela-S3	cervix:	n/a	chr5:37249646-37249656 chr5:37249636-37249646 chr5:37249762-37249772
13	CHD2	chr5:37248971-37250080	H1-hESC	embryonic stem cell:	n/a	chr5:37249646-37249656 chr5:37249636-37249646 chr5:37249762-37249772
14	CHD2	chr5:37248897-37249636	GM12878	blood:	n/a	n/a
15	CHD2	chr5:37248986-37249489	HepG2	liver:	n/a	n/a
16	CREB1	chr5:37248951-37249922	A549	lung:	n/a	n/a
17	CREB1	chr5:37248857-37250008	HepG2	liver:	n/a	n/a
18	CREB1	chr5:37249181-37249702	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTBP2	chr5:37248902-37250350	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr5:37249240-37249390	HMEC	breast:	n/a	chr5:37249349-37249358
21	CTCF	chr5:37249040-37249190	NB4	blood:	n/a	n/a
22	CTCF	chr5:37249040-37249190	HPF	lung:	n/a	n/a
23	CTCF	chr5:37249280-37249430	GM12869	blood:	n/a	chr5:37249349-37249358
24	CTCF	chr5:37249020-37249170	GM12871	blood:	n/a	n/a
25	CTCF	chr5:37249280-37249430	HL-60	blood:	n/a	chr5:37249349-37249358
26	CTCF	chr5:37249423-37249483	GM19238	blood:	n/a	n/a
27	CTCF	chr5:37249060-37249210	HCM	heart:	n/a	n/a
28	CTCF	chr5:37249080-37249230	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr5:37249320-37249470	GM12864	blood:	n/a	chr5:37249349-37249358
30	CTCF	chr5:37249240-37249390	HEK293	kidney:	n/a	chr5:37249349-37249358
31	CTCF	chr5:37249100-37249250	GM12866	blood:	n/a	n/a
32	CTCF	chr5:37249200-37249350	Caco-2	colon:	n/a	n/a
33	CTCF	chr5:37249060-37249210	GM12865	blood:	n/a	n/a
34	CTCF	chr5:37249100-37249250	BE2_C	brain:	n/a	n/a
35	CTCF	chr5:37248980-37249130	GM12867	blood:	n/a	n/a
36	CTCF	chr5:37249365-37249449	Fibrobl	skin:	n/a	n/a
37	CTCF	chr5:37249063-37249207	GM19239	blood:	n/a	n/a
38	CTCF	chr5:37249260-37249410	Caco-2	colon:	n/a	chr5:37249349-37249358
39	CTCF	chr5:37249080-37249370	HPAF	blood vessel:	n/a	chr5:37249349-37249358
40	CTCF	chr5:37249120-37249199	Fibrobl	skin:	n/a	n/a
41	CTCF	chr5:37249120-37249410	RPTEC	kidney:	n/a	chr5:37249349-37249358
42	CTCF	chr5:37249220-37249370	HA-sp	spinal cord:	n/a	chr5:37249349-37249358
43	CTCF	chr5:37249060-37249330	GM06990	blood:	n/a	n/a
44	CTCF	chr5:37249060-37249210	HMEC	breast:	n/a	n/a
45	CTCF	chr5:37249040-37249190	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:37249080-37249230	GM12871	blood:	n/a	n/a
47	CTCF	chr5:37249240-37249390	Hela-S3	cervix:	n/a	chr5:37249349-37249358
48	CTCF	chr5:37249311-37249385	MCF-7	breast:	n/a	chr5:37249349-37249358
49	CTCF	chr5:37249080-37249230	GM12865	blood:	n/a	n/a
50	CTCF	chr5:37249350-37249442	MCF-7	breast:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37248984-37249034	ovcar-3	ovarian:	n/a
2	chr5:37248894-37248944	AG09319	gingival:	n/a
3	chr5:37248984-37249034	ovcar-3	ovarian:	n/a
4	chr5:37248894-37248944	AG09319	gingival:	n/a
5	chr5:37250092-37250142	GM06990	blood:	n/a
6	chr5:37248894-37248944	ovcar-3	ovarian:	n/a
7	chr5:37248984-37249034	NH-A	brain:	n/a
8	chr5:37249909-37249959	ProgFib	skin:	n/a
9	chr5:37249223-37249273	Jurkat	blood:	n/a
10	chr5:37249909-37249959	IMR90	lung:	fetal
11	chr5:37248894-37248944	MCF10A-Er-Src	breast:	n/a
12	chr5:37249909-37249959	SKMC	muscle:	n/a
13	chr5:37249567-37249617	HRPEpiC	eye:	n/a
14	chr5:37249405-37249455	HCM	heart:	n/a
15	chr5:37249405-37249455	U87	brain:	n/a
16	chr5:37249567-37249617	ECC-1	luminal epithelium:	n/a
17	chr5:37250092-37250142	HNPCEpiC	eye:	n/a
18	chr5:37249567-37249617	NHBE	bronchial:	n/a
19	chr5:37250092-37250142	RPTEC	kidney:	n/a
20	chr5:37249405-37249455	BJ	skin:	n/a
21	chr5:37248894-37248944	HCF	heart:	n/a
22	chr5:37248894-37248944	PANC-1	pancreas:	n/a
23	chr5:37249909-37249959	HCM	heart:	n/a
24	chr5:37249909-37249959	Hela-S3	cervix:	n/a
25	chr5:37249405-37249455	HMEC	breast:	n/a
26	chr5:37250092-37250142	HRE	kidney:	n/a
27	chr5:37249909-37249959	K562	blood:	n/a
28	chr5:37249223-37249273	HRPEpiC	eye:	n/a
29	chr5:37249909-37249959	GM19239	blood:	n/a
30	chr5:37249567-37249617	SAEC	small airway:	n/a
31	chr5:37249567-37249617	T-47D	breast:	n/a
32	chr5:37249567-37249617	IMR90	lung:	fetal
33	chr5:37249909-37249959	SAEC	small airway:	n/a
34	chr5:37249405-37249455	A549	lung:	n/a
35	chr5:37248984-37249034	HepG2	liver:	n/a
36	chr5:37249405-37249455	PFSK-1	brain:	n/a
37	chr5:37248984-37249034	SK-N-SH	brain:	n/a
38	chr5:37248984-37249034	HCF	heart:	n/a
39	chr5:37248984-37249034	LNCaP	prostate:	n/a
40	chr5:37249567-37249617	PANC-1	pancreas:	n/a
41	chr5:37248984-37249034	NT2-D1	testis:	n/a
42	chr5:37249405-37249455	PANC-1	pancreas:	n/a
43	chr5:37250092-37250142	CMK	blood:	n/a
44	chr5:37249909-37249959	HCF	heart:	n/a
45	chr5:37250092-37250142	ProgFib	skin:	n/a
46	chr5:37249405-37249455	HNPCEpiC	eye:	n/a
47	chr5:37249223-37249273	NB4	blood:	n/a
48	chr5:37248894-37248944	HRE	kidney:	n/a
49	chr5:37248984-37249034	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:37249567-37249617	AoSMC	blood vessel:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:37247385..37249387-chr5:37291319..37293555,2	MCF-7	breast:
2	chr19:55918635..55919160-chr5:37249246..37250155,2	Hela-S3	cervix:
3	chr3:52016674..52017877-chr5:37249098..37249636,3	Hela-S3	cervix:
4	chr5:37244319..37247437-chr5:37248031..37251100,3	MCF-7	breast:
5	chr14:64804845..64805497-chr5:37249133..37249826,2	Hela-S3	cervix:
6	chr11:75110443..75111008-chr5:37248561..37249187,2	Hela-S3	cervix:
7	chr17:41465731..41466245-chr5:37249205..37250047,2	Hela-S3	cervix:
8	chr12:54388997..54389960-chr5:37248812..37249668,2	Hela-S3	cervix:
9	chr12:95867838..95868385-chr5:37249139..37249647,2	Hela-S3	cervix:
10	chr5:37249278..37249862-chr6:27805404..27806202,2	Hela-S3	cervix:
11	chr5:37248619..37249243-chr7:5562577..5563334,2	Hela-S3	cervix:
12	chr12:27397103..27397782-chr5:37248907..37249410,2	Hela-S3	cervix:
13	chr16:2517911..2518776-chr5:37248952..37249746,2	Hela-S3	cervix:
14	chr19:10612852..10613551-chr5:37248973..37249815,2	NB4	blood:
15	chr19:11450158..11450732-chr5:37248969..37249920,2	Hela-S3	cervix:
16	chr11:67888391..67888933-chr5:37248964..37249645,2	Hela-S3	cervix:
17	chr19:10222166..10222747-chr5:37249630..37250278,2	NB4	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR70-5	chr5:37248948-37249323	NONHSAT101057
2	lnc-WDR70-5	chr5:37249174-37249323	NONHSAT101058
3	lnc-WDR70-5	chr5:37250499-37250654	NONHSAT101058

No data

Variant related genes	Relation type
C5orf42	TF binding region
RN7SL37P	TF binding region
C5orf42	CpG island
RN7SL37P	CpG island
ENSG00000244165	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000113569	chromatin interactions
ENSG00000105514	chromatin interactions
ENSG00000250133	chromatin interactions
ENSG00000110721	chromatin interactions
ENSG00000111142	chromatin interactions
ENSG00000149273	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000259895	chromatin interactions
ENSG00000214770	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000243989	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000180806	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000242493	chromatin interactions
ENSG00000211455	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184114632	chr5:37248252-37248253	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370800315	chr5:37248270-37248271	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs188265805	chr5:37248316-37248317	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs546030901	chr5:37248355-37248356	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs140465253	chr5:37248376-37248377	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs531886824	chr5:37248405-37248406	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs150409302	chr5:37248464-37248465	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs562519226	chr5:37248479-37248480	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs567658829	chr5:37248497-37248498	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs138069116	chr5:37248509-37248510	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs560388771	chr5:37248547-37248548	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs12658307	chr5:37248607-37248608	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs201102193	chr5:37248616-37248617	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs146335748	chr5:37248621-37248622	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs566479537	chr5:37248629-37248630	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs533875071	chr5:37248702-37248703	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs193067255	chr5:37248716-37248717	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs111582220	chr5:37248720-37248721	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs72736769	chr5:37248721-37248722	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs556460888	chr5:37248755-37248756	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs568460031	chr5:37248908-37248909	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs549845197	chr5:37248975-37248976	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
23	rs554129510	chr5:37248993-37248994	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
24	rs183576177	chr5:37248994-37248995	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
25	rs187125062	chr5:37248998-37248999	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
26	rs72736771	chr5:37249021-37249022	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576197275	chr5:37249062-37249063	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
28	rs2270559	chr5:37249075-37249076	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562272341	chr5:37249107-37249108	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
30	rs529576174	chr5:37249147-37249148	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
31	rs10061109	chr5:37249148-37249149	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560089684	chr5:37249168-37249169	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
33	rs373288514	chr5:37249181-37249182	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
34	rs527384567	chr5:37249201-37249202	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
35	rs552260522	chr5:37249203-37249204	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
36	rs570673927	chr5:37249226-37249227	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
37	rs531502812	chr5:37249240-37249241	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
38	rs549977894	chr5:37249263-37249264	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
39	rs376843958	chr5:37249267-37249268	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
40	rs568306275	chr5:37249270-37249271	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
41	rs552313177	chr5:37249279-37249280	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
42	rs571776530	chr5:37249280-37249281	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
43	rs535169376	chr5:37249327-37249328	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs535739458	chr5:37249337-37249338	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs6887338	chr5:37249368-37249369	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs553885563	chr5:37249379-37249380	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs566025425	chr5:37249460-37249461	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs539562043	chr5:37249495-37249496	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs80164363	chr5:37249533-37249534	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs548045238	chr5:37249591-37249592	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
2	chr5:37209600-37248400	Weak transcription	NHEK	skin
3	chr5:37215000-37248400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:37225600-37248600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:37227200-37248400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:37227400-37248400	Weak transcription	HMEC	breast
7	chr5:37227400-37248400	Weak transcription	NHLF	lung
8	chr5:37227400-37248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:37227800-37248600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:37233400-37248600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:37234000-37248600	Weak transcription	Esophagus	oesophagus
12	chr5:37234400-37248400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:37236800-37248600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:37237200-37248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:37237600-37248600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:37237800-37248400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:37238400-37248400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:37238400-37248600	Weak transcription	Aorta	Aorta
19	chr5:37238400-37248600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:37239000-37248600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:37239200-37248600	Weak transcription	Liver	Liver
22	chr5:37240400-37248400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:37240600-37248600	Weak transcription	Small Intestine	intestine
24	chr5:37240800-37248600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:37241000-37248400	Weak transcription	Brain Angular Gyrus	brain
26	chr5:37241200-37248600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:37242000-37248400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:37242000-37248600	Weak transcription	Colonic Mucosa	Colon
29	chr5:37245200-37248400	Weak transcription	HSMMtube	muscle
30	chr5:37246200-37248600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr5:37246400-37248400	Enhancers	Thymus	Thymus
32	chr5:37246600-37248600	Weak transcription	NH-A	brain
33	chr5:37246800-37248400	Enhancers	Fetal Heart	heart
34	chr5:37246800-37248600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:37247000-37248600	Enhancers	Brain Cingulate Gyrus	brain
36	chr5:37247200-37248400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:37247200-37248400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:37247200-37248400	Enhancers	Brain Germinal Matrix	brain
39	chr5:37247200-37248400	Enhancers	Osteobl	bone
40	chr5:37247200-37248600	Enhancers	Primary hematopoietic stem cells	blood
41	chr5:37247200-37248600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:37247200-37248600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr5:37247200-37248600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr5:37247200-37248600	Enhancers	Colon Smooth Muscle	Colon
45	chr5:37247200-37248600	Enhancers	HUVEC	blood vessel
46	chr5:37247200-37249000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:37247200-37249000	Flanking Active TSS	Dnd41	blood
48	chr5:37247400-37248400	Enhancers	Adipose Nuclei	Adipose
49	chr5:37247400-37249800	Active TSS	GM12878-XiMat	blood
50	chr5:37247400-37250400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links