Variant report

Variant	nsv583036
Chromosome Location	chr2:128173819-128183914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:451)
CpG islands
(count:916)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:128175792-128176663	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:128176946-128177372	HepG2	liver:	n/a	n/a
3	ATF2	chr2:128173331-128173856	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr2:128173386-128173871	GM12878	blood:	n/a	chr2:128173613-128173626
5	BHLHE40	chr2:128175803-128176744	HepG2	liver:	n/a	n/a
6	BHLHE40	chr2:128183639-128183902	K562	blood:	n/a	n/a
7	BHLHE40	chr2:128179389-128179419	K562	blood:	n/a	n/a
8	BHLHE40	chr2:128180580-128180672	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:128173235-128173862	K562	blood:	n/a	chr2:128173622-128173638
10	BHLHE40	chr2:128180513-128180785	K562	blood:	n/a	n/a
11	BHLHE40	chr2:128180528-128180738	A549	lung:	n/a	n/a
12	BRCA1	chr2:128181187-128181452	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr2:128173265-128173839	K562	blood:	n/a	n/a
14	CEBPB	chr2:128176896-128177219	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:128175845-128176121	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:128181012-128181341	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr2:128176023-128176446	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:128181008-128181219	A549	lung:	n/a	n/a
19	CEBPD	chr2:128175744-128176733	HepG2	liver:	n/a	n/a
20	CHD2	chr2:128175791-128176524	HepG2	liver:	n/a	n/a
21	CHD2	chr2:128180216-128180612	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr2:128181092-128181333	Hela-S3	cervix:	n/a	chr2:128181309-128181319
23	CHD2	chr2:128177343-128177356	HepG2	liver:	n/a	n/a
24	CREB1	chr2:128180234-128180864	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr2:128173413-128173846	A549	lung:	n/a	n/a
26	CREB1	chr2:128180798-128181400	A549	lung:	n/a	n/a
27	CREB1	chr2:128173304-128174068	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr2:128173398-128174007	GM12878	blood:	n/a	n/a
29	CREB1	chr2:128173354-128173955	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTBP2	chr2:128173356-128174131	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr2:128180052-128181455	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr2:128176160-128176310	GM12871	blood:	n/a	n/a
33	CTCF	chr2:128181500-128181650	AG09319	gingival:	n/a	n/a
34	CTCF	chr2:128181160-128181310	SAEC	small airway:	n/a	chr2:128181243-128181256 chr2:128181250-128181263
35	CTCF	chr2:128181360-128181510	A549	lung:	n/a	n/a
36	CTCF	chr2:128182780-128182930	HMF	breast:	n/a	n/a
37	CTCF	chr2:128181500-128181650	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr2:128181458-128181708	K562	blood:	n/a	n/a
39	CTCF	chr2:128182823-128182945	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr2:128180880-128181030	Caco-2	colon:	n/a	n/a
41	CTCF	chr2:128181340-128181490	NB4	blood:	n/a	n/a
42	CTCF	chr2:128180880-128180967	GM19238	blood:	n/a	n/a
43	CTCF	chr2:128176069-128176281	K562	blood:	n/a	n/a
44	CTCF	chr2:128181500-128181650	HMF	breast:	n/a	n/a
45	CTCF	chr2:128181420-128181570	AG04450	lung:	n/a	n/a
46	CTCF	chr2:128173034-128174370	SK-N-SH	brain:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
47	CTCF	chr2:128182717-128183009	K562	blood:	n/a	n/a
48	CTCF	chr2:128181460-128181610	K562	blood:	n/a	n/a
49	CTCF	chr2:128181400-128181550	HAc	cerebellar:	n/a	n/a
50	CTCF	chr2:128182700-128182850	HCPEpiC	choroid plexus:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128176454-128176504	HMEC	breast:	n/a
2	chr2:128176454-128176504	HMEC	breast:	n/a
3	chr2:128180829-128180879	HUVEC	blood vessel:	n/a
4	chr2:128176454-128176504	PFSK-1	brain:	n/a
5	chr2:128180829-128180879	Hepatocyte	liver:	n/a
6	chr2:128181313-128181363	GM12892	blood:	n/a
7	chr2:128180646-128180696	K562	blood:	n/a
8	chr2:128176007-128176057	NHDF-neo	bronchial:	n/a
9	chr2:128175179-128175229	ProgFib	skin:	n/a
10	chr2:128177475-128177525	HCM	heart:	n/a
11	chr2:128182794-128182844	NHBE	bronchial:	n/a
12	chr2:128182794-128182844	PANC-1	pancreas:	n/a
13	chr2:128175068-128175118	MCF-7	breast:	n/a
14	chr2:128175068-128175118	SAEC	small airway:	n/a
15	chr2:128180829-128180879	SKMC	muscle:	n/a
16	chr2:128181325-128181375	H1-hESC	embryonic stem cell:	embryo
17	chr2:128180829-128180879	HEK293	kidney:	embryo
18	chr2:128176454-128176504	SK-N-SH	brain:	n/a
19	chr2:128177475-128177525	Jurkat	blood:	n/a
20	chr2:128180959-128181009	RPTEC	kidney:	n/a
21	chr2:128180488-128180538	AG04450	lung:	fetal
22	chr2:128180959-128181009	NHBE	bronchial:	n/a
23	chr2:128180646-128180696	NB4	blood:	n/a
24	chr2:128181313-128181363	MCF-7	breast:	n/a
25	chr2:128180646-128180696	ECC-1	luminal epithelium:	n/a
26	chr2:128180959-128181009	SKMC	muscle:	n/a
27	chr2:128180959-128181009	U87	brain:	n/a
28	chr2:128181313-128181363	SKMC	muscle:	n/a
29	chr2:128175179-128175229	Hela-S3	cervix:	n/a
30	chr2:128175300-128175350	AG04449	skin:	fetal
31	chr2:128175068-128175118	HMEC	breast:	n/a
32	chr2:128175891-128175941	SAEC	small airway:	n/a
33	chr2:128175891-128175941	HCPEpiC	choroid plexus:	n/a
34	chr2:128175891-128175941	LNCaP	prostate:	n/a
35	chr2:128177475-128177525	CMK	blood:	n/a
36	chr2:128175300-128175350	GM12891	blood:	n/a
37	chr2:128175905-128175955	HL-60	blood:	n/a
38	chr2:128180829-128180879	NH-A	brain:	n/a
39	chr2:128175300-128175350	GM12892	blood:	n/a
40	chr2:128175179-128175229	HAEpiC	amniotic membrane:	n/a
41	chr2:128180646-128180696	ProgFib	skin:	n/a
42	chr2:128176454-128176504	A549	lung:	n/a
43	chr2:128182794-128182844	RPTEC	kidney:	n/a
44	chr2:128180646-128180696	AG09309	skin:	n/a
45	chr2:128175179-128175229	HepG2	liver:	n/a
46	chr2:128180959-128181009	IMR90	lung:	fetal
47	chr2:128181325-128181375	HNPCEpiC	eye:	n/a
48	chr2:128175905-128175955	SAEC	small airway:	n/a
49	chr2:128180959-128181009	HIPEpiC	eye:	n/a
50	chr2:128180488-128180538	ProgFib	skin:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128172446..128176144-chr2:128177649..128179573,3	MCF-7	breast:
2	chr2:128182670..128185856-chr2:128186426..128188335,3	K562	blood:
3	chr2:128183243..128185185-chr2:128188049..128189643,2	MCF-7	breast:
4	chr2:128143841..128146885-chr2:128179410..128184717,5	MCF-7	breast:
5	chr2:128167645..128171047-chr2:128172725..128175521,4	MCF-7	breast:
6	chr2:128173888..128177059-chr2:128178517..128180558,4	K562	blood:
7	chr2:128178778..128180626-chr2:128184042..128185706,2	MCF-7	breast:
8	chr2:128050076..128053017-chr2:128173952..128176764,3	MCF-7	breast:
9	chr2:128081908..128082904-chr2:128173401..128174161,4	K562	blood:
10	chr2:128143986..128147167-chr2:128178825..128181533,4	MCF-7	breast:
11	chr2:128171833..128175442-chr2:128179888..128182308,3	MCF-7	breast:
12	chr2:128172111..128174190-chr2:128184627..128187597,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP3K2-1	chr2:128173703-128173838	NONHSAT074157

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4783-5p	chr2:128181162-128181182	MIMAT0019946
hsa-miR-4783-3p	chr2:128181122-128181144	MIMAT0019947

No data

Variant related genes	Relation type
MIR4783	TF binding region
PROC	TF binding region
MIR4783	CpG island
PROC	CpG island
ENSG00000163161	chromatin interactions
ENSG00000169967	chromatin interactions
ENSG00000115718	chromatin interactions
ENSG00000264075	chromatin interactions
ENSG00000236682	chromatin interactions

Extended variants
information (count: 464 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs908787	chr2:128173819-128173820	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2069892	chr2:128173833-128173834	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561648815	chr2:128173851-128173852	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs527626029	chr2:128173854-128173855	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs2069893	chr2:128173883-128173884	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs2069934	chr2:128173886-128173887	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568268921	chr2:128173887-128173888	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs144352539	chr2:128173888-128173889	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs533714787	chr2:128173900-128173901	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs111584252	chr2:128173906-128173907	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs367878387	chr2:128173907-128173908	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs2069894	chr2:128174054-128174055	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554578398	chr2:128174061-128174062	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs2069895	chr2:128174068-128174069	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs2069896	chr2:128174093-128174094	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs191803180	chr2:128174121-128174122	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs2069897	chr2:128174154-128174155	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs142571165	chr2:128174159-128174160	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs200123523	chr2:128174161-128174162	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs2069898	chr2:128174227-128174228	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs549638248	chr2:128174312-128174313	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs545864529	chr2:128174402-128174403	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs553307551	chr2:128174411-128174412	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs543039101	chr2:128174415-128174416	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs143325186	chr2:128174424-128174425	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs540974786	chr2:128174461-128174462	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs184072806	chr2:128174491-128174492	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs533000314	chr2:128174505-128174506	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs188023232	chr2:128174531-128174532	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs148382838	chr2:128174553-128174554	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs569498381	chr2:128174566-128174567	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs535016313	chr2:128174595-128174596	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs180884438	chr2:128174597-128174598	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs2069899	chr2:128174606-128174607	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs2069935	chr2:128174633-128174634	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs190811624	chr2:128174702-128174703	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs534157779	chr2:128174728-128174729	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs554185640	chr2:128174734-128174735	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs2069900	chr2:128174776-128174777	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574982969	chr2:128174823-128174824	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs540116309	chr2:128174824-128174825	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs2069901	chr2:128174843-128174844	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs140580748	chr2:128174846-128174847	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs541995037	chr2:128174852-128174853	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs150405910	chr2:128174858-128174859	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs386650219	chr2:128174862-128174863	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs2069902	chr2:128174863-128174864	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs563901708	chr2:128174865-128174866	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs138258863	chr2:128174914-128174915	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs370916344	chr2:128174915-128174916	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128171200-128174200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:128171400-128174000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:128172400-128174000	Enhancers	Lung	lung
4	chr2:128172400-128174800	Enhancers	Spleen	Spleen
5	chr2:128172800-128176800	Weak transcription	NHDF-Ad	bronchial
6	chr2:128173000-128174200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr2:128173000-128174200	Enhancers	Small Intestine	intestine
8	chr2:128173000-128174800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr2:128173200-128174000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:128173200-128174000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr2:128173200-128174000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr2:128173200-128174000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:128173200-128174000	Flanking Active TSS	A549	lung
14	chr2:128173200-128174200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr2:128173200-128174200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:128173200-128174200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:128173200-128174200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:128173200-128174200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr2:128173200-128174200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:128173200-128174200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr2:128173200-128174200	Flanking Active TSS	HMEC	breast
22	chr2:128173200-128174200	Flanking Active TSS	NHEK	skin
23	chr2:128173200-128174400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:128173200-128174400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:128173200-128174400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:128173200-128174400	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr2:128173200-128174600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr2:128173200-128174600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:128173200-128174600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:128173200-128174800	Flanking Active TSS	Liver	Liver
31	chr2:128173400-128174000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:128173400-128174000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:128173400-128174000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:128173400-128174000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:128173400-128174000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:128173400-128174000	Active TSS	Primary T cells from cord blood	blood
37	chr2:128173400-128174000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr2:128173400-128174000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr2:128173400-128174000	Flanking Active TSS	Left Ventricle	heart
40	chr2:128173400-128174000	Flanking Active TSS	Ovary	ovary
41	chr2:128173400-128174000	Flanking Active TSS	HUVEC	blood vessel
42	chr2:128173400-128174000	Flanking Active TSS	NH-A	brain
43	chr2:128173400-128174200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr2:128173400-128174200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr2:128173400-128174200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:128173400-128174200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr2:128173400-128174200	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr2:128173400-128174200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:128173400-128174200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr2:128173400-128174200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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