Variant report

Variant	nsv1006887
Chromosome Location	chr1:77566348-77698128
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1191)
CpG islands
(count:672)
Chromatin interactive
region (count:52)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1191 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:77613911-77614236	K562	blood:	n/a	n/a
2	ARID3A	chr1:77613782-77614272	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:77684172-77684460	K562	blood:	n/a	n/a
4	ARID3A	chr1:77685466-77685797	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:77684893-77685652	K562	blood:	n/a	n/a
6	ARID3A	chr1:77570248-77570348	K562	blood:	n/a	n/a
7	ATF2	chr1:77684775-77685330	GM12878	blood:	n/a	n/a
8	ATF3	chr1:77685043-77685293	GM12878	blood:	n/a	n/a
9	ATF3	chr1:77684877-77685303	GM12878	blood:	n/a	n/a
10	ATF3	chr1:77684909-77685300	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr1:77684945-77685283	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr1:77684926-77685251	HepG2	liver:	n/a	n/a
13	ATF3	chr1:77684887-77685287	K562	blood:	n/a	n/a
14	BCL11A	chr1:77594938-77595150	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:77684666-77685365	GM12878	blood:	n/a	n/a
16	BHLHE40	chr1:77663959-77664043	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:77586774-77586881	K562	blood:	n/a	n/a
18	BHLHE40	chr1:77684646-77685267	K562	blood:	n/a	n/a
19	BRCA1	chr1:77684238-77685332	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr1:77632014-77632036	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr1:77640999-77641328	HCT-116	colon:	n/a	n/a
22	CBX3	chr1:77642990-77643270	K562	blood:	n/a	n/a
23	CBX3	chr1:77669841-77670055	K562	blood:	n/a	n/a
24	CBX3	chr1:77684888-77685319	K562	blood:	n/a	n/a
25	CBX3	chr1:77669783-77670105	K562	blood:	n/a	n/a
26	CCNT2	chr1:77684886-77685269	K562	blood:	n/a	n/a
27	CEBPB	chr1:77647770-77648127	A549	lung:	n/a	n/a
28	CEBPB	chr1:77697453-77697749	IMR90	lung:	n/a	n/a
29	CEBPB	chr1:77647833-77648002	HepG2	liver:	n/a	n/a
30	CEBPB	chr1:77662932-77663203	A549	lung:	n/a	n/a
31	CEBPB	chr1:77662915-77663277	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:77628165-77628467	K562	blood:	n/a	chr1:77628291-77628300 chr1:77628291-77628300 chr1:77628289-77628302 chr1:77628291-77628300 chr1:77628291-77628302 chr1:77628286-77628303 chr1:77628291-77628300 chr1:77628289-77628300 chr1:77628289-77628302
33	CEBPB	chr1:77684971-77685335	K562	blood:	n/a	n/a
34	CEBPB	chr1:77684986-77685282	A549	lung:	n/a	n/a
35	CEBPB	chr1:77675454-77675526	K562	blood:	n/a	n/a
36	CEBPB	chr1:77662923-77663240	IMR90	lung:	n/a	n/a
37	CEBPB	chr1:77647737-77648137	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr1:77686337-77686744	IMR90	lung:	n/a	n/a
39	CEBPB	chr1:77584248-77584512	IMR90	lung:	n/a	n/a
40	CEBPB	chr1:77684493-77685370	Hela-S3	cervix:	n/a	chr1:77684503-77684516
41	CEBPB	chr1:77647803-77648198	MCF-7	breast:	n/a	n/a
42	CEBPB	chr1:77647763-77648160	A549	lung:	n/a	n/a
43	CEBPB	chr1:77647760-77648153	K562	blood:	n/a	n/a
44	CEBPB	chr1:77649470-77649753	HepG2	liver:	n/a	n/a
45	CEBPB	chr1:77647795-77648104	K562	blood:	n/a	n/a
46	CEBPB	chr1:77647780-77648132	HepG2	liver:	n/a	n/a
47	CEBPB	chr1:77662914-77663269	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr1:77686365-77686777	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr1:77684844-77685415	GM12878	blood:	n/a	n/a
50	CEBPB	chr1:77685000-77685308	IMR90	lung:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:77685251-77685301	SK-N-SH	brain:	n/a
2	chr1:77685251-77685301	SK-N-SH	brain:	n/a
3	chr1:77685229-77685279	HL-60	blood:	n/a
4	chr1:77685094-77685144	CMK	blood:	n/a
5	chr1:77684965-77685015	BE2_C	brain:	n/a
6	chr1:77684965-77685015	HEEpiC	esophagus:	n/a
7	chr1:77685062-77685112	HIPEpiC	eye:	n/a
8	chr1:77688131-77688181	HRCEpiC	kidney:	n/a
9	chr1:77685062-77685112	GM12878	blood:	n/a
10	chr1:77685015-77685065	RPTEC	kidney:	n/a
11	chr1:77685135-77685185	ProgFib	skin:	n/a
12	chr1:77685135-77685185	HRE	kidney:	n/a
13	chr1:77685251-77685301	BJ	skin:	n/a
14	chr1:77685229-77685279	PANC-1	pancreas:	n/a
15	chr1:77684965-77685015	IMR90	lung:	fetal
16	chr1:77681561-77681611	HCF	heart:	n/a
17	chr1:77684965-77685015	HCT-116	colon:	n/a
18	chr1:77685150-77685200	NHBE	bronchial:	n/a
19	chr1:77685135-77685185	NT2-D1	testis:	n/a
20	chr1:77688131-77688181	HepG2	liver:	n/a
21	chr1:77685015-77685065	HCT-116	colon:	n/a
22	chr1:77685062-77685112	Caco-2	colon:	n/a
23	chr1:77685015-77685065	H1-hESC	embryonic stem cell:	embryo
24	chr1:77685251-77685301	HRPEpiC	eye:	n/a
25	chr1:77684965-77685015	HAEpiC	amniotic membrane:	n/a
26	chr1:77683411-77683461	AG09309	skin:	n/a
27	chr1:77688131-77688181	HCT-116	colon:	n/a
28	chr1:77685150-77685200	Hela-S3	cervix:	n/a
29	chr1:77685135-77685185	HEEpiC	esophagus:	n/a
30	chr1:77681561-77681611	GM06990	blood:	n/a
31	chr1:77684965-77685015	SAEC	small airway:	n/a
32	chr1:77684965-77685015	Hepatocyte	liver:	n/a
33	chr1:77685062-77685112	HUVEC	blood vessel:	n/a
34	chr1:77685135-77685185	GM06990	blood:	n/a
35	chr1:77685229-77685279	NT2-D1	testis:	n/a
36	chr1:77683411-77683461	RPTEC	kidney:	n/a
37	chr1:77685062-77685112	HCF	heart:	n/a
38	chr1:77685062-77685112	GM19239	blood:	n/a
39	chr1:77684965-77685015	ovcar-3	ovarian:	n/a
40	chr1:77685015-77685065	HRPEpiC	eye:	n/a
41	chr1:77685150-77685200	Jurkat	blood:	n/a
42	chr1:77685015-77685065	GM12878	blood:	n/a
43	chr1:77685229-77685279	SAEC	small airway:	n/a
44	chr1:77685062-77685112	NHBE	bronchial:	n/a
45	chr1:77685150-77685200	HRE	kidney:	n/a
46	chr1:77685150-77685200	AG04450	lung:	fetal
47	chr1:77685015-77685065	NHDF-neo	bronchial:	n/a
48	chr1:77688131-77688181	GM19239	blood:	n/a
49	chr1:77685015-77685065	SKMC	muscle:	n/a
50	chr1:77685135-77685185	HCPEpiC	choroid plexus:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:77684564..77687850-chr1:77688271..77692443,7	K562	blood:
2	chr1:77684507..77685215-chr5:44808668..44809523,2	Hela-S3	cervix:
3	chr1:76796470..76797076-chr1:77591559..77592349,2	MCF-7	breast:
4	chr1:77690590..77694353-chr1:77694495..77697779,4	K562	blood:
5	chr1:77668693..77669518-chr4:102182394..102183036,2	HCT-116	colon:
6	chr1:77629370..77632144-chr1:77633203..77635072,2	K562	blood:
7	chr1:77366569..77367440-chr1:77591672..77592573,4	MCF-7	breast:
8	chr1:77667810..77669464-chr1:78468632..78471293,2	K562	blood:
9	chr1:77584058..77586581-chr1:77589256..77592005,2	MCF-7	breast:
10	chr1:77606929..77608436-chr1:77608515..77611448,2	MCF-7	breast:
11	chr1:77674234..77675786-chr1:77815270..77816932,2	K562	blood:
12	chr1:77366245..77367518-chr1:77591630..77592525,3	K562	blood:
13	chr1:77584058..77586581-chr1:77589256..77592005,2	MCF-7	breast:
14	chr1:77669001..77671084-chr1:77671530..77674115,2	MCF-7	breast:
15	chr1:76796389..76797022-chr1:77608917..77609894,2	MCF-7	breast:
16	chr1:77656179..77658700-chr1:77659686..77662553,2	K562	blood:
17	chr1:77677424..77679474-chr1:77687776..77689660,2	K562	blood:
18	chr1:77661332..77664043-chr1:77683749..77686209,2	K562	blood:
19	chr1:77694564..77696510-chr1:77698043..77700950,2	K562	blood:
20	chr1:77676621..77679098-chr1:77684360..77686793,2	K562	blood:
21	chr1:77677708..77680059-chr1:77682131..77685030,3	K562	blood:
22	chr1:77579749..77582722-chr1:77596983..77598740,2	K562	blood:
23	chr1:77679355..77682217-chr1:77684388..77686382,2	MCF-7	breast:
24	chr1:77577767..77579951-chr1:77584279..77585797,2	K562	blood:
25	chr1:77613856..77614476-chr1:77778903..77779788,3	MCF-7	breast:
26	chr1:77679203..77681796-chr1:77682341..77684705,2	K562	blood:
27	chr1:77677708..77680059-chr1:77682131..77685030,3	K562	blood:
28	chr1:77598635..77600352-chr1:77601887..77604613,2	K562	blood:
29	chr1:77679203..77681796-chr1:77682341..77684705,2	K562	blood:
30	chr1:77673903..77675950-chr1:77678224..77680465,2	K562	blood:
31	chr1:76619537..76620481-chr1:77608892..77609886,3	K562	blood:
32	chr1:77682598..77685827-chr1:77690810..77693587,3	K562	blood:
33	chr1:77613628..77614149-chr1:78580241..78580790,2	K562	blood:
34	chr1:77677424..77679474-chr1:77687776..77689660,2	K562	blood:
35	chr1:76796476..76797352-chr1:77609351..77609861,2	K562	blood:
36	chr1:77578497..77580194-chr1:77590857..77592378,2	K562	blood:
37	chr1:76619799..76620863-chr1:77591812..77592540,5	K562	blood:
38	chr1:77694564..77696510-chr1:77698043..77700950,2	K562	blood:
39	chr1:77669001..77671084-chr1:77671530..77674115,2	MCF-7	breast:
40	chr1:77558452..77561081-chr1:77564506..77566487,2	K562	blood:
41	chr1:77673903..77675950-chr1:77678224..77680465,2	K562	blood:
42	chr1:77606929..77608436-chr1:77608515..77611448,2	MCF-7	breast:
43	chr1:76619528..76620590-chr1:77591988..77592713,3	MCF-7	breast:
44	chr1:77690590..77694353-chr1:77694495..77697779,4	K562	blood:
45	chr1:77560743..77563432-chr1:77569835..77572448,2	K562	blood:
46	chr1:77598635..77600352-chr1:77601887..77604613,2	K562	blood:
47	chr1:77613814..77614601-chr1:78366080..78366641,2	K562	blood:
48	chr1:77577767..77579951-chr1:77584279..77585797,2	K562	blood:
49	chr1:77578497..77580194-chr1:77590857..77592378,2	K562	blood:
50	chr1:77684670..77686781-chr1:77746398..77749229,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AK5-1	chr1:77685227-77685338	XLOC_000263
2	lnc-AK5-1	chr1:77686473-77686671	XLOC_000263
3	lnc-AK5-1	chr1:77686609-77686678	XLOC_000263
4	lnc-AK5-2	chr1:77692452-77694222	NONHSAT004025
5	lnc-PIGK-3	chr1:77690411-77690647	NONHSAT004024
6	lnc-AK5-1	chr1:77686286-77690011	NONHSAT004022
7	lnc-AK5-1	chr1:77686768-77686969	XLOC_000263

No data

Variant related genes	Relation type
ENSG00000226084	TF binding region
PIGK	TF binding region
ENSG00000228187	TF binding region
ENSG00000226084	CpG island
PIGK	CpG island
ENSG00000228187	CpG island
ENSG00000112996	chromatin interactions
ENSG00000142892	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000233099	chromatin interactions
ENSG00000251141	chromatin interactions
ENSG00000228187	chromatin interactions
ENSG00000162616	chromatin interactions
ENSG00000154027	chromatin interactions
RBM8A	miRNA target sites
RBM6	miRNA target sites

Extended variants
information (count: 4622 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:4622 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530673769	chr1:77566374-77566375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138869942	chr1:77566386-77566387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149488015	chr1:77566427-77566428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528287142	chr1:77566446-77566447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143937743	chr1:77566478-77566479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571234768	chr1:77566612-77566613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539710044	chr1:77566620-77566621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539444359	chr1:77566680-77566681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551401510	chr1:77566697-77566698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558152248	chr1:77566713-77566714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11807652	chr1:77566773-77566774	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555603167	chr1:77566842-77566843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531202365	chr1:77566843-77566844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181698657	chr1:77566850-77566851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534940892	chr1:77566852-77566853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72681885	chr1:77566911-77566912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578262839	chr1:77566931-77566932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368351149	chr1:77566932-77566933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7543646	chr1:77567040-77567041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151154520	chr1:77567043-77567044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148619732	chr1:77567078-77567079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116338224	chr1:77567088-77567089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542670518	chr1:77567119-77567120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554638384	chr1:77567223-77567224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141515649	chr1:77567250-77567251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574590436	chr1:77567260-77567261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191624943	chr1:77567275-77567276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183024430	chr1:77567277-77567278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543579642	chr1:77567300-77567301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563466450	chr1:77567388-77567389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79988368	chr1:77567452-77567453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74829888	chr1:77567455-77567456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111777164	chr1:77567463-77567464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546076380	chr1:77567534-77567535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544052909	chr1:77567549-77567550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559797427	chr1:77567550-77567551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139406371	chr1:77567589-77567590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537068439	chr1:77567612-77567613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549442102	chr1:77567621-77567622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548441575	chr1:77567625-77567626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186348397	chr1:77567677-77567678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190850477	chr1:77567695-77567696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144123785	chr1:77567720-77567721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375763163	chr1:77567751-77567752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182706428	chr1:77567761-77567762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562190506	chr1:77567764-77567765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115618064	chr1:77567780-77567781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575159258	chr1:77567802-77567803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56411710	chr1:77567809-77567810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187867723	chr1:77567862-77567863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1380 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77547800-77570600	Weak transcription	Ovary	ovary
2	chr1:77548400-77570400	Weak transcription	Left Ventricle	heart
3	chr1:77550400-77570400	Weak transcription	Aorta	Aorta
4	chr1:77555000-77577800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:77556000-77614400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:77558600-77569000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:77561000-77569400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:77562400-77580600	Weak transcription	Primary T cells from cord blood	blood
9	chr1:77566200-77566800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:77566400-77567200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:77566600-77567200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:77568600-77595600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:77569000-77569600	Enhancers	Fetal Brain Male	brain
14	chr1:77569000-77570000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:77569200-77569600	Enhancers	Brain Germinal Matrix	brain
16	chr1:77569200-77569600	Enhancers	Fetal Brain Female	brain
17	chr1:77569400-77569800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:77569400-77570600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:77570400-77570600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:77570400-77570600	Enhancers	Esophagus	oesophagus
21	chr1:77570400-77570600	ZNF genes & repeats	Pancreas	Pancrea
22	chr1:77570400-77570800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:77570400-77570800	Enhancers	Gastric	stomach
24	chr1:77570400-77570800	ZNF genes & repeats	Left Ventricle	heart
25	chr1:77570400-77571000	ZNF genes & repeats	Aorta	Aorta
26	chr1:77570600-77570800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:77570600-77570800	ZNF genes & repeats	Ovary	ovary
28	chr1:77570800-77572400	Weak transcription	Ovary	ovary
29	chr1:77570800-77596800	Weak transcription	Left Ventricle	heart
30	chr1:77573400-77591200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:77574200-77584400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:77574200-77588400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:77574400-77613800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:77575000-77604000	Weak transcription	Primary B cells from cord blood	blood
35	chr1:77575800-77588200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:77576800-77591400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:77577600-77582600	Weak transcription	HUVEC	blood vessel
38	chr1:77577600-77582800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:77577800-77578600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:77578600-77607800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:77579800-77614200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:77580000-77582400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:77580600-77583600	Strong transcription	Primary T cells from cord blood	blood
44	chr1:77581800-77587800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:77581800-77599200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:77582400-77596400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:77583000-77598400	Weak transcription	Ovary	ovary
48	chr1:77583600-77586000	Weak transcription	Primary T cells from cord blood	blood
49	chr1:77584400-77585600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:77585200-77587600	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

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