Variant report

Variant	esv2761367
Chromosome Location	chr7:126717157-126865324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:742)
CpG islands
(count:305)
Chromatin interactive
region (count:40)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr7:126747776-126748061	GM12878	blood:	n/a	chr7:126747977-126747986
2	BHLHE40	chr7:126747718-126748132	K562	blood:	n/a	n/a
3	CBX3	chr7:126747686-126748104	K562	blood:	n/a	n/a
4	CBX3	chr7:126747633-126748162	K562	blood:	n/a	n/a
5	CCNT2	chr7:126811817-126812017	K562	blood:	n/a	n/a
6	CCNT2	chr7:126837048-126837211	K562	blood:	n/a	n/a
7	CEBPB	chr7:126826461-126826618	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr7:126729643-126729857	HepG2	liver:	n/a	chr7:126729719-126729730
9	CEBPB	chr7:126729684-126729737	K562	blood:	n/a	chr7:126729719-126729730
10	CEBPB	chr7:126864372-126864434	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr7:126723317-126723623	HepG2	liver:	n/a	chr7:126723476-126723487
12	CEBPB	chr7:126787274-126787579	HepG2	liver:	n/a	n/a
13	CEBPB	chr7:126723318-126723628	A549	lung:	n/a	chr7:126723476-126723487
14	CEBPB	chr7:126793003-126793247	HepG2	liver:	n/a	n/a
15	CTCF	chr7:126747928-126748033	GM19239	blood:	n/a	n/a
16	CTCF	chr7:126790656-126790886	GM12878	blood:	n/a	n/a
17	CTCF	chr7:126747680-126747830	SAEC	small airway:	n/a	n/a
18	CTCF	chr7:126790740-126790890	GM12866	blood:	n/a	n/a
19	CTCF	chr7:126747660-126747810	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr7:126790660-126790810	K562	blood:	n/a	n/a
21	CTCF	chr7:126747820-126747970	WI-38	lung:	n/a	n/a
22	CTCF	chr7:126747800-126747950	A549	lung:	n/a	n/a
23	CTCF	chr7:126747560-126747710	A549	lung:	n/a	n/a
24	CTCF	chr7:126747647-126747827	GM19240	blood:	n/a	n/a
25	CTCF	chr7:126747640-126747790	GM12874	blood:	n/a	n/a
26	CTCF	chr7:126747900-126748050	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr7:126747941-126747998	GM13977	blood:	n/a	n/a
28	CTCF	chr7:126790760-126790910	GM12875	blood:	n/a	n/a
29	CTCF	chr7:126747640-126747790	HCT-116	colon:	n/a	n/a
30	CTCF	chr7:126747639-126747825	MCF-7	breast:	n/a	n/a
31	CTCF	chr7:126747680-126747830	NHEK	skin:	n/a	n/a
32	CTCF	chr7:126747562-126748004	K562	blood:	n/a	n/a
33	CTCF	chr7:126798860-126799010	GM12867	blood:	n/a	chr7:126798898-126798914
34	CTCF	chr7:126747680-126747830	HRE	kidney:	n/a	n/a
35	CTCF	chr7:126798718-126799097	GM12878	blood:	n/a	chr7:126798898-126798914
36	CTCF	chr7:126747640-126747790	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr7:126798600-126798750	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr7:126790737-126790855	HepG2	liver:	n/a	n/a
39	CTCF	chr7:126747622-126747813	ProgFib	skin:	n/a	n/a
40	CTCF	chr7:126747700-126747850	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr7:126798780-126798930	HRE	kidney:	n/a	chr7:126798898-126798914
42	CTCF	chr7:126798800-126798950	GM12866	blood:	n/a	chr7:126798898-126798914
43	CTCF	chr7:126747660-126747810	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr7:126747660-126747810	Caco-2	colon:	n/a	n/a
45	CTCF	chr7:126790800-126790950	RPTEC	kidney:	n/a	n/a
46	CTCF	chr7:126747700-126747850	GM12869	blood:	n/a	n/a
47	CTCF	chr7:126747647-126747817	MCF-7	breast:	n/a	n/a
48	CTCF	chr7:126747687-126747792	GM20000	blood:	n/a	n/a
49	CTCF	chr7:126747700-126747850	NHEK	skin:	n/a	n/a
50	CTCF	chr7:126747640-126747790	GM12801	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:126752911-126752961	GM12878	blood:	n/a
2	chr7:126752816-126752866	HCPEpiC	choroid plexus:	n/a
3	chr7:126854672-126854722	PrEC	prostate:	n/a
4	chr7:126752911-126752961	PrEC	prostate:	n/a
5	chr7:126829514-126829564	HRPEpiC	eye:	n/a
6	chr7:126854672-126854722	RPTEC	kidney:	n/a
7	chr7:126829514-126829564	HMEC	breast:	n/a
8	chr7:126854672-126854722	U87	brain:	n/a
9	chr7:126765549-126765599	PrEC	prostate:	n/a
10	chr7:126765549-126765599	Hepatocyte	liver:	n/a
11	chr7:126752816-126752866	PFSK-1	brain:	n/a
12	chr7:126752816-126752866	HRE	kidney:	n/a
13	chr7:126829514-126829564	HEK293	kidney:	embryo
14	chr7:126752816-126752866	HCT-116	colon:	n/a
15	chr7:126752816-126752866	HNPCEpiC	eye:	n/a
16	chr7:126829514-126829564	HL-60	blood:	n/a
17	chr7:126752911-126752961	GM06990	blood:	n/a
18	chr7:126752816-126752866	HRPEpiC	eye:	n/a
19	chr7:126765549-126765599	LNCaP	prostate:	n/a
20	chr7:126765549-126765599	HRCEpiC	kidney:	n/a
21	chr7:126752911-126752961	NHDF-neo	bronchial:	n/a
22	chr7:126765549-126765599	ProgFib	skin:	n/a
23	chr7:126765549-126765599	AG10803	skin:	n/a
24	chr7:126752816-126752866	Hela-S3	cervix:	n/a
25	chr7:126765549-126765599	AG09309	skin:	n/a
26	chr7:126765549-126765599	SK-N-SH	brain:	n/a
27	chr7:126765549-126765599	HEEpiC	esophagus:	n/a
28	chr7:126765549-126765599	GM12878	blood:	n/a
29	chr7:126752816-126752866	NH-A	brain:	n/a
30	chr7:126752816-126752866	BE2_C	brain:	n/a
31	chr7:126854672-126854722	CMK	blood:	n/a
32	chr7:126854672-126854722	NB4	blood:	n/a
33	chr7:126765549-126765599	Hela-S3	cervix:	n/a
34	chr7:126752911-126752961	PANC-1	pancreas:	n/a
35	chr7:126752911-126752961	HRCEpiC	kidney:	n/a
36	chr7:126752911-126752961	HUVEC	blood vessel:	n/a
37	chr7:126752911-126752961	ovcar-3	ovarian:	n/a
38	chr7:126765549-126765599	HL-60	blood:	n/a
39	chr7:126752911-126752961	GM12891	blood:	n/a
40	chr7:126752816-126752866	SAEC	small airway:	n/a
41	chr7:126765549-126765599	ECC-1	luminal epithelium:	n/a
42	chr7:126765549-126765599	HRE	kidney:	n/a
43	chr7:126752911-126752961	H1-hESC	embryonic stem cell:	embryo
44	chr7:126752816-126752866	ovcar-3	ovarian:	n/a
45	chr7:126854672-126854722	GM06990	blood:	n/a
46	chr7:126854672-126854722	Jurkat	blood:	n/a
47	chr7:126829514-126829564	HepG2	liver:	n/a
48	chr7:126829514-126829564	PrEC	prostate:	n/a
49	chr7:126854672-126854722	MCF-7	breast:	n/a
50	chr7:126752816-126752866	SK-N-MC	brain:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:164509263..164509920-chr7:126837817..126838611,2	MCF-7	breast:
2	chr7:126857935..126859467-chr7:126862307..126865217,2	K562	blood:
3	chr7:126747689..126748223-chr7:126982959..126983570,2	MCF-7	breast:
4	chr7:126857935..126859467-chr7:126862307..126865217,2	K562	blood:
5	chr7:126748685..126750706-chr7:126758876..126761407,2	K562	blood:
6	chr7:126719826..126721988-chr7:126731679..126734281,2	K562	blood:
7	7:126085913-126088095..7:126815147-126825227	GM12878	blood:
8	chr7:126828890..126831389-chr7:126845053..126847311,2	K562	blood:
9	chr7:126859803..126861412-chr7:126868321..126870477,2	K562	blood:
10	chr7:126825377..126827148-chr7:126829233..126831138,2	K562	blood:
11	chr7:126827110..126829126-chr7:126831548..126834316,2	K562	blood:
12	chr7:126795668..126798128-chr7:126799668..126802365,2	K562	blood:
13	chr7:126747288..126748236-chr7:126893729..126894723,2	K562	blood:
14	chr7:126714682..126717546-chr7:126724506..126726256,2	K562	blood:
15	chr7:126727758..126729748-chr7:126749664..126752422,2	K562	blood:
16	chr7:126842484..126844799-chr7:126846564..126849446,2	K562	blood:
17	chr7:126762824..126764890-chr7:126769812..126771409,2	K562	blood:
18	chr7:126746979..126748949-chr7:126761231..126762876,2	K562	blood:
19	chr7:126718359..126720333-chr7:126729809..126731677,2	K562	blood:
20	chr7:126762824..126764890-chr7:126769812..126771409,2	K562	blood:
21	chr7:126748685..126750706-chr7:126758876..126761407,2	K562	blood:
22	chr7:126747293..126748237-chr7:126893164..126894608,6	MCF-7	breast:
23	chr7:126714682..126717546-chr7:126724506..126726256,2	K562	blood:
24	chr7:126841412..126842988-chr7:126847997..126850796,2	K562	blood:
25	chr7:126795668..126798128-chr7:126799668..126802365,2	K562	blood:
26	chr7:126746979..126748949-chr7:126761231..126762876,2	K562	blood:
27	chr7:126784108..126786629-chr7:126806406..126809235,2	K562	blood:
28	chr7:126784108..126786629-chr7:126806406..126809235,2	K562	blood:
29	chr7:126827110..126829126-chr7:126831548..126834316,2	K562	blood:
30	chr7:126719826..126721988-chr7:126731679..126734281,2	K562	blood:
31	chr7:126744151..126746757-chr7:126749061..126750994,2	K562	blood:
32	chr7:126747301..126748195-chr7:127154353..127155146,2	MCF-7	breast:
33	chr7:126812464..126813971-chr7:126814116..126815770,2	K562	blood:
34	chr7:126825377..126827148-chr7:126829233..126831138,2	K562	blood:
35	chr7:126828890..126831389-chr7:126845053..126847311,2	K562	blood:
36	chr7:126841412..126842988-chr7:126847997..126850796,2	K562	blood:
37	chr7:126844024..126846766-chr7:126858329..126861025,2	K562	blood:
38	chr7:126842484..126844799-chr7:126846564..126849446,2	K562	blood:
39	chr7:126812464..126813971-chr7:126814116..126815770,2	K562	blood:
40	chr7:126844024..126846766-chr7:126858329..126861025,2	K562	blood:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF800-4	chr7:126787075-126792049	NONHSAT123130
2	lnc-ZNF800-5	chr7:126778502-126778855	expReg_chr7_8972_-
3	lnc-ARF5-14	chr7:126778688-126778813	NONHSAT123129
4	lnc-ZNF800-1	chr7:126724745-126724843	ENSG00000230206.1
5	lnc-ZNF800-1	chr7:126720747-126720931	ENSG00000230206.1
6	lnc-ARF5-3	chr7:126859521-126859756	ENSG00000236340.1
7	lnc-ZNF800-1	chr7:126722158-126722228	ENSG00000230206.1
8	lnc-ARF5-3	chr7:126855181-126855307	NR_110195
9	lnc-ZNF800-6	chr7:126777123-126777583	NONHSAT123128
10	lnc-ARF5-14	chr7:126777418-126777807	NONHSAT123129
11	lnc-ZNF800-1	chr7:126730963-126730972	ENSG00000230206.1
12	lnc-ZNF800-1	chr7:126730963-126731067	NONHSAT123126
13	lnc-ARF5-3	chr7:126855181-126855307	ENSG00000236340.1
14	lnc-ZNF800-3	chr7:126800086-126800564	expReg_chr7_9032_-
15	lnc-ZNF800-1	chr7:126724343-126724469	NONHSAT123126
16	lnc-ARF5-3	chr7:126855181-126855307	ENSG00000236340.1
17	lnc-ZNF800-4	chr7:126789744-126789976	expReg_chr7_8988_-
18	lnc-ZNF800-1	chr7:126735719-126735864	NONHSAT123126
19	lnc-ZNF800-1	chr7:126724745-126724843	NONHSAT123126

No data

Variant related genes	Relation type
ENSG00000236340	TF binding region
GRM8	TF binding region
ENSG00000236340	CpG island
GRM8	CpG island
ENSG00000179603	chromatin interactions

Extended variants
information (count: 1949 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1949 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143055041	chr7:126718365-126718366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569389858	chr7:126718370-126718371	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536758653	chr7:126718371-126718372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188162688	chr7:126718383-126718384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570161439	chr7:126718387-126718388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375073370	chr7:126718394-126718395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147451736	chr7:126718395-126718396	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552881972	chr7:126718408-126718409	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138579845	chr7:126718442-126718443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533770866	chr7:126718450-126718451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2237786	chr7:126718480-126718481	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs556880201	chr7:126718493-126718494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575354863	chr7:126718551-126718552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563076253	chr7:126718613-126718614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs17865293	chr7:126718694-126718695	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564567906	chr7:126718695-126718696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372652671	chr7:126718702-126718703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573310328	chr7:126718727-126718728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192821626	chr7:126718778-126718779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144116025	chr7:126718788-126718789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150686250	chr7:126718810-126718811	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6942923	chr7:126718835-126718836	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139887731	chr7:126718840-126718841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533347163	chr7:126718866-126718867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566824808	chr7:126718874-126718875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371609062	chr7:126718888-126718889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551879786	chr7:126718899-126718900	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149814716	chr7:126718928-126718929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11563728	chr7:126718961-126718962	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184394545	chr7:126718968-126718969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374923283	chr7:126718970-126718971	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144515391	chr7:126718990-126718991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369362421	chr7:126718996-126718997	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577017653	chr7:126719012-126719013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188161875	chr7:126719043-126719044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs17869834	chr7:126719046-126719047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10252488	chr7:126719080-126719081	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs17861406	chr7:126719100-126719101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539628415	chr7:126719147-126719148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557951181	chr7:126719154-126719155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs17868918	chr7:126719156-126719157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573397173	chr7:126719164-126719165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149021239	chr7:126719166-126719167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs4615512	chr7:126719170-126719171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs17864122	chr7:126719175-126719176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544627423	chr7:126719176-126719177	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs17868506	chr7:126719186-126719187	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563177432	chr7:126719203-126719204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34314060	chr7:126719205-126719206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs189396582	chr7:126719223-126719224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Prostate cancer	22341455	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126720200-126721600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:126720400-126721400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:126721200-126721400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:126721600-126722000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:126721800-126722000	Enhancers	Brain Anterior Caudate	brain
6	chr7:126734400-126734800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:126734600-126735200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:126735200-126742400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:126742400-126742600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:126745000-126745600	Enhancers	Brain Germinal Matrix	brain
11	chr7:126753400-126755400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:126754000-126755200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:126754200-126755400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:126754400-126755200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:126754400-126755200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:126754400-126755200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:126754400-126755400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:126754400-126755400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:126755000-126755200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:126755000-126755400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:126755800-126756000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:126763000-126764000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:126763000-126764400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:126763000-126764400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:126786800-126787600	Enhancers	HepG2	liver
26	chr7:126792200-126792800	Enhancers	Liver	Liver
27	chr7:126792400-126793200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:126806800-126807200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:126826600-126827800	Enhancers	Thymus	Thymus
30	chr7:126827400-126828400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:126827600-126827800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:126828200-126830400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:126828600-126829200	Enhancers	Brain Hippocampus Middle	brain
34	chr7:126828600-126830400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:126828800-126829200	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:126828800-126829200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:126828800-126829200	Enhancers	Brain Substantia Nigra	brain
38	chr7:126828800-126830200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:126828800-126830400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:126828800-126830600	Enhancers	Brain Angular Gyrus	brain
41	chr7:126829000-126829600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:126829000-126829600	Active TSS	Brain Anterior Caudate	brain
43	chr7:126829000-126830200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:126829000-126830200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:126829000-126830400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:126829000-126830400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:126829200-126829400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:126829200-126829400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:126829200-126829600	Active TSS	Brain Substantia Nigra	brain
50	chr7:126829200-126829800	Active TSS	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links