Variant report

Variant	nsv1003593
Chromosome Location	chr2:40009597-40165666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1145)
CpG islands
(count:366)
Chromatin interactive
region (count:32)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1145 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:40064934-40065232	K562	blood:	n/a	n/a
2	ARID3A	chr2:40048059-40048309	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:40063976-40064113	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:40140743-40141194	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:40065069-40065346	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:40009729-40010336	K562	blood:	n/a	n/a
7	ATF1	chr2:40009768-40010682	K562	blood:	n/a	n/a
8	ATF1	chr2:40061595-40061892	K562	blood:	n/a	n/a
9	ATF3	chr2:40010278-40010499	K562	blood:	n/a	chr2:40010448-40010457 chr2:40010419-40010428
10	BACH1	chr2:40026039-40026076	K562	blood:	n/a	n/a
11	BACH1	chr2:40149983-40150021	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr2:40081958-40081966	K562	blood:	n/a	n/a
13	BACH1	chr2:40009533-40009999	K562	blood:	n/a	n/a
14	BCL3	chr2:40010306-40010883	GM12878	blood:	n/a	n/a
15	BCLAF1	chr2:40140740-40141114	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:40009871-40010944	K562	blood:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010413-40010434 chr2:40010448-40010457
17	BHLHE40	chr2:40065039-40065357	K562	blood:	n/a	n/a
18	BHLHE40	chr2:40065052-40065398	HepG2	liver:	n/a	n/a
19	BHLHE40	chr2:40010283-40010625	HepG2	liver:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010413-40010434 chr2:40010448-40010457
20	CBX3	chr2:40017551-40017840	K562	blood:	n/a	n/a
21	CBX3	chr2:40063705-40064135	HCT-116	colon:	n/a	n/a
22	CBX3	chr2:40009992-40010630	K562	blood:	n/a	n/a
23	CBX3	chr2:40072443-40073031	HCT-116	colon:	n/a	n/a
24	CBX3	chr2:40017638-40017847	K562	blood:	n/a	n/a
25	CEBPB	chr2:40099988-40100193	IMR90	lung:	n/a	chr2:40100075-40100086 chr2:40100077-40100086 chr2:40100075-40100088 chr2:40100076-40100087
26	CEBPB	chr2:40102344-40103213	A549	lung:	n/a	chr2:40102862-40102870 chr2:40102918-40102929
27	CEBPB	chr2:40102210-40102846	A549	lung:	n/a	n/a
28	CEBPB	chr2:40102298-40102797	A549	lung:	n/a	n/a
29	CEBPB	chr2:40073533-40073760	A549	lung:	n/a	n/a
30	CEBPB	chr2:40140796-40141140	A549	lung:	n/a	chr2:40140980-40140993 chr2:40140982-40140993 chr2:40140982-40140993
31	CEBPB	chr2:40014356-40014578	HepG2	liver:	n/a	chr2:40014437-40014448
32	CEBPB	chr2:40140745-40141199	MCF-7	breast:	n/a	chr2:40140980-40140993 chr2:40140982-40140993 chr2:40140982-40140993
33	CEBPB	chr2:40019411-40019643	K562	blood:	n/a	n/a
34	CEBPB	chr2:40157413-40157574	IMR90	lung:	n/a	n/a
35	CEBPB	chr2:40102341-40102721	MCF-7	breast:	n/a	n/a
36	CEBPB	chr2:40144232-40144363	A549	lung:	n/a	n/a
37	CEBPB	chr2:40102314-40103169	IMR90	lung:	n/a	chr2:40102862-40102870 chr2:40102918-40102929
38	CEBPB	chr2:40033097-40033413	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:40140785-40141280	IMR90	lung:	n/a	chr2:40140980-40140993 chr2:40140982-40140993 chr2:40140982-40140993
40	CEBPB	chr2:40073005-40073172	A549	lung:	n/a	n/a
41	CEBPB	chr2:40099979-40100144	H1-hESC	embryonic stem cell:	n/a	chr2:40100075-40100086 chr2:40100077-40100086 chr2:40100075-40100088 chr2:40100076-40100087
42	CEBPB	chr2:40109105-40109372	A549	lung:	n/a	chr2:40109315-40109326
43	CEBPB	chr2:40099903-40100249	HepG2	liver:	n/a	chr2:40100075-40100086 chr2:40100077-40100086 chr2:40100075-40100088 chr2:40100076-40100087
44	CEBPB	chr2:40140795-40141098	K562	blood:	n/a	chr2:40140980-40140993 chr2:40140982-40140993 chr2:40140982-40140993
45	CEBPB	chr2:40103034-40103345	MCF-7	breast:	n/a	n/a
46	CEBPB	chr2:40099919-40100201	A549	lung:	n/a	chr2:40100075-40100086 chr2:40100077-40100086 chr2:40100075-40100088 chr2:40100076-40100087
47	CEBPB	chr2:40103180-40103257	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr2:40101859-40102061	IMR90	lung:	n/a	n/a
49	CEBPB	chr2:40132841-40132864	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:40140744-40141140	Hela-S3	cervix:	n/a	chr2:40140980-40140993 chr2:40140982-40140993 chr2:40140982-40140993

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:40149258-40149308	A549	lung:	n/a
2	chr2:40140929-40140979	HCM	heart:	n/a
3	chr2:40140929-40140979	GM12891	blood:	n/a
4	chr2:40102810-40102860	GM12892	blood:	n/a
5	chr2:40140929-40140979	GM12892	blood:	n/a
6	chr2:40147801-40147851	BJ	skin:	n/a
7	chr2:40149258-40149308	HNPCEpiC	eye:	n/a
8	chr2:40140929-40140979	HL-60	blood:	n/a
9	chr2:40102810-40102860	HCF	heart:	n/a
10	chr2:40102810-40102860	NB4	blood:	n/a
11	chr2:40097661-40097711	SK-N-SH_RA	brain:	n/a
12	chr2:40149258-40149308	HRPEpiC	eye:	n/a
13	chr2:40140929-40140979	Caco-2	colon:	n/a
14	chr2:40140929-40140979	AG04450	lung:	fetal
15	chr2:40149258-40149308	SK-N-SH_RA	brain:	n/a
16	chr2:40147801-40147851	AG09319	gingival:	n/a
17	chr2:40165558-40165608	HEEpiC	esophagus:	n/a
18	chr2:40147801-40147851	AG04450	lung:	fetal
19	chr2:40102810-40102860	ECC-1	luminal epithelium:	n/a
20	chr2:40165558-40165608	PANC-1	pancreas:	n/a
21	chr2:40097661-40097711	LNCaP	prostate:	n/a
22	chr2:40165558-40165608	Jurkat	blood:	n/a
23	chr2:40165558-40165608	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:40147801-40147851	SK-N-SH_RA	brain:	n/a
25	chr2:40149258-40149308	BE2_C	brain:	n/a
26	chr2:40102810-40102860	HNPCEpiC	eye:	n/a
27	chr2:40147801-40147851	IMR90	lung:	fetal
28	chr2:40149258-40149308	Jurkat	blood:	n/a
29	chr2:40140929-40140979	AG09319	gingival:	n/a
30	chr2:40097661-40097711	NH-A	brain:	n/a
31	chr2:40165558-40165608	Hela-S3	cervix:	n/a
32	chr2:40149258-40149308	T-47D	breast:	n/a
33	chr2:40149258-40149308	HUVEC	blood vessel:	n/a
34	chr2:40165558-40165608	Hepatocyte	liver:	n/a
35	chr2:40149258-40149308	HPAEpiC	pulmonary alveolar:	n/a
36	chr2:40149258-40149308	AoSMC	blood vessel:	n/a
37	chr2:40097661-40097711	NB4	blood:	n/a
38	chr2:40165558-40165608	BJ	skin:	n/a
39	chr2:40097661-40097711	HL-60	blood:	n/a
40	chr2:40140929-40140979	AG10803	skin:	n/a
41	chr2:40102810-40102860	HCM	heart:	n/a
42	chr2:40149258-40149308	HIPEpiC	eye:	n/a
43	chr2:40165558-40165608	GM12878	blood:	n/a
44	chr2:40147801-40147851	HIPEpiC	eye:	n/a
45	chr2:40165558-40165608	AG04449	skin:	fetal
46	chr2:40147801-40147851	A549	lung:	n/a
47	chr2:40147801-40147851	SKMC	muscle:	n/a
48	chr2:40147801-40147851	H1-hESC	embryonic stem cell:	embryo
49	chr2:40102810-40102860	MCF-7	breast:	n/a
50	chr2:40102810-40102860	T-47D	breast:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:40026913..40028511-chr2:40029938..40031858,2	MCF-7	breast:
2	chr2:39606937..39607476-chr2:40065093..40065933,2	MCF-7	breast:
3	chr2:40100537..40101165-chr2:40112091..40112603,2	MCF-7	breast:
4	chr2:40144153..40146237-chr2:40148819..40150420,2	K562	blood:
5	chr2:40127848..40131758-chr2:40131769..40134520,3	K562	blood:
6	chr2:40140455..40141410-chr2:40986765..40987805,5	MCF-7	breast:
7	chr2:40140915..40141986-chr2:40781509..40782393,3	MCF-7	breast:
8	chr2:40140445..40141319-chr2:41925707..41926458,2	K562	blood:
9	chr2:40127848..40131758-chr2:40131769..40134520,3	K562	blood:
10	chr2:40005279..40008048-chr2:40019437..40021577,2	K562	blood:
11	chr2:40026913..40028511-chr2:40029938..40031858,2	MCF-7	breast:
12	chr2:40140525..40141334-chr2:42009019..42009970,2	K562	blood:
13	chr2:40039211..40041944-chr2:40045536..40047144,2	MCF-7	breast:
14	chr2:40100537..40101165-chr2:40112091..40112603,2	MCF-7	breast:
15	chr2:40064756..40065596-chr2:40082708..40083242,2	MCF-7	breast:
16	chr2:40071382..40074146-chr2:40078508..40080014,2	MCF-7	breast:
17	chr2:40140472..40141253-chr2:40471871..40472400,2	MCF-7	breast:
18	chr2:40081608..40083244-chr2:40101423..40104022,3	MCF-7	breast:
19	chr2:40081608..40083244-chr2:40101423..40104022,3	MCF-7	breast:
20	chr2:40039211..40041944-chr2:40045536..40047144,2	MCF-7	breast:
21	chr2:40164512..40166990-chr2:40173493..40175018,2	MCF-7	breast:
22	chr2:39991894..39993577-chr2:40151910..40153730,2	K562	blood:
23	chr2:40071382..40074146-chr2:40078508..40080014,2	MCF-7	breast:
24	chr2:39996683..39999283-chr2:40048598..40050382,2	K562	blood:
25	chr2:40002526..40004161-chr2:40026691..40028627,2	K562	blood:
26	chr2:40004284..40008257-chr2:40008263..40012278,6	MCF-7	breast:
27	chr2:40006031..40007593-chr2:40009599..40011683,2	MCF-7	breast:
28	chr2:40140709..40141329-chr2:40986882..40987436,2	MCF-7	breast:
29	chr2:40144153..40146237-chr2:40148819..40150420,2	K562	blood:
30	chr2:40004496..40006686-chr2:40138159..40140367,2	MCF-7	breast:
31	chr2:40005279..40007772-chr2:40018373..40020937,3	K562	blood:
32	chr2:40064756..40065596-chr2:40082708..40083242,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-2	chr2:40149989-40150029	NONHSAT070261
2	lnc-TMEM178-2	chr2:40149989-40150029	ENSG00000227028.1
3	lnc-TMEM178-2	chr2:40149990-40150029	NONHSAT070263
4	lnc-TMEM178-2	chr2:40144774-40144799	NONHSAT070261
5	lnc-TMEM178-2	chr2:40146833-40146923	ENSG00000227028.1

No data

Variant related genes	Relation type
ENSG00000235653	TF binding region
SLC8A1-AS1	TF binding region
THUMPD2	TF binding region
ENSG00000235653	CpG island
SLC8A1-AS1	CpG island
THUMPD2	CpG island
ENSG00000138050	chromatin interactions
ENSG00000011566	chromatin interactions

Extended variants
information (count: 5716 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:5716 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150999258	chr2:40009607-40009608	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs139630181	chr2:40009651-40009652	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs534222011	chr2:40009655-40009656	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs184500266	chr2:40009669-40009670	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs576812583	chr2:40009673-40009674	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs189459262	chr2:40009739-40009740	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs149658530	chr2:40009783-40009784	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs145447769	chr2:40009855-40009856	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs541966254	chr2:40009880-40009881	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs560077503	chr2:40009891-40009892	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs191749539	chr2:40009895-40009896	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs73924941	chr2:40009897-40009898	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4670292	chr2:40009902-40009903	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531306738	chr2:40009951-40009952	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549808150	chr2:40009967-40009968	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs184117289	chr2:40009978-40009979	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs528991601	chr2:40009984-40009985	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs188858794	chr2:40010043-40010044	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs59943821	chr2:40010054-40010055	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11684302	chr2:40010055-40010056	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35232856	chr2:40010117-40010118	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs552562013	chr2:40010146-40010147	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs570830133	chr2:40010156-40010157	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs537800314	chr2:40010170-40010171	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs550948093	chr2:40010199-40010200	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs556148265	chr2:40010234-40010235	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs568156713	chr2:40010331-40010332	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs115740827	chr2:40010337-40010338	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs140251855	chr2:40010372-40010373	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs572129823	chr2:40010376-40010377	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs569173073	chr2:40010428-40010429	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs17024353	chr2:40010437-40010438	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs78468838	chr2:40010452-40010453	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs145344598	chr2:40010475-40010476	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs7600224	chr2:40010494-40010495	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs146455185	chr2:40010507-40010508	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs557998486	chr2:40010523-40010524	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs181692146	chr2:40010559-40010560	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs573369222	chr2:40010562-40010563	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs370379529	chr2:40010584-40010585	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs140643821	chr2:40010596-40010597	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs527853016	chr2:40010615-40010616	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs116636137	chr2:40010616-40010617	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs555635225	chr2:40010648-40010649	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs570768640	chr2:40010689-40010690	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs368801775	chr2:40010694-40010695	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs72006471	chr2:40010695-40010696	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs534988300	chr2:40010697-40010698	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs201542533	chr2:40010723-40010724	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs145567925	chr2:40010730-40010731	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40006600-40010000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:40006800-40010200	Weak transcription	Esophagus	oesophagus
3	chr2:40006800-40014000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:40007000-40010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:40007000-40010000	Weak transcription	NHEK	skin
6	chr2:40007000-40010200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:40007000-40010200	Weak transcription	Placenta	Placenta
8	chr2:40007000-40010400	Weak transcription	NH-A	brain
9	chr2:40007200-40010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:40007800-40010600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:40008000-40010000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:40008000-40010600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:40008200-40010400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:40008400-40010000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:40008400-40010600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:40008600-40010000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:40008600-40010000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:40008600-40010000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:40008600-40010000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:40008600-40010000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:40008600-40010200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:40008600-40010200	Weak transcription	HSMMtube	muscle
23	chr2:40008600-40010400	Weak transcription	NHDF-Ad	bronchial
24	chr2:40008800-40009800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:40008800-40010000	Weak transcription	HMEC	breast
26	chr2:40008800-40010200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:40008800-40010200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:40008800-40010600	Enhancers	K562	blood
29	chr2:40008800-40013200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:40009000-40010600	Enhancers	Osteobl	bone
31	chr2:40009000-40013200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:40009200-40010200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:40009200-40010200	Weak transcription	HepG2	liver
34	chr2:40009200-40010400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:40009200-40010600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:40009200-40013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:40009200-40013800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:40009400-40009600	Enhancers	Brain Angular Gyrus	brain
39	chr2:40010000-40010200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:40010000-40010400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:40010000-40010600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:40010000-40010600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:40010000-40010600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:40010000-40011000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:40010000-40011000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:40010000-40011000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:40010000-40011000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:40010000-40011000	Enhancers	HMEC	breast
49	chr2:40010000-40011000	Enhancers	NHEK	skin
50	chr2:40010000-40013200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links