Variant report

Variant	nsv610158
Chromosome Location	chr8:8262897-8362710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1185)
CpG islands
(count:244)
Chromatin interactive
region (count:61)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1185 , 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	chr8:8314706-8315018	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:8324363-8325247	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:8285133-8285725	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:8318936-8319027	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:8340777-8341233	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:8286275-8287368	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:8283141-8283395	HepG2	liver:	n/a	n/a
8	ATF2	chr8:8353515-8354183	GM12878	blood:	n/a	n/a
9	ATF2	chr8:8350336-8351041	GM12878	blood:	n/a	n/a
10	ATF2	chr8:8324529-8324992	GM12878	blood:	n/a	n/a
11	ATF2	chr8:8350224-8351026	GM12878	blood:	n/a	n/a
12	ATF2	chr8:8310015-8310665	GM12878	blood:	n/a	n/a
13	ATF2	chr8:8324550-8324879	GM12878	blood:	n/a	n/a
14	ATF2	chr8:8344838-8345446	GM12878	blood:	n/a	n/a
15	ATF2	chr8:8310031-8310713	GM12878	blood:	n/a	n/a
16	ATF2	chr8:8293199-8293483	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr8:8353476-8354189	GM12878	blood:	n/a	n/a
18	ATF3	chr8:8286690-8287352	A549	lung:	n/a	n/a
19	ATF3	chr8:8286695-8287347	A549	lung:	n/a	n/a
20	BACH1	chr8:8313375-8313563	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr8:8353652-8354011	GM12878	blood:	n/a	chr8:8353733-8353742
22	BATF	chr8:8350565-8350887	GM12878	blood:	n/a	n/a
23	BATF	chr8:8345103-8345453	GM12878	blood:	n/a	n/a
24	BATF	chr8:8310182-8310550	GM12878	blood:	n/a	n/a
25	BATF	chr8:8310225-8310548	GM12878	blood:	n/a	n/a
26	BATF	chr8:8353637-8354083	GM12878	blood:	n/a	chr8:8353733-8353742
27	BATF	chr8:8341003-8341212	GM12878	blood:	n/a	n/a
28	BCL11A	chr8:8353622-8354069	GM12878	blood:	n/a	chr8:8353725-8353734
29	BCL11A	chr8:8310249-8310487	GM12878	blood:	n/a	n/a
30	BCL11A	chr8:8353657-8354012	GM12878	blood:	n/a	chr8:8353725-8353734
31	BCL11A	chr8:8310128-8310497	GM12878	blood:	n/a	n/a
32	BCL3	chr8:8353689-8353967	GM12878	blood:	n/a	chr8:8353725-8353734
33	BCL3	chr8:8286570-8287287	A549	lung:	n/a	n/a
34	BCL3	chr8:8340375-8341335	A549	lung:	n/a	chr8:8340757-8340766 chr8:8340756-8340765
35	BCL3	chr8:8353620-8353935	GM12878	blood:	n/a	chr8:8353725-8353734
36	BCL3	chr8:8286658-8287363	A549	lung:	n/a	n/a
37	BCLAF1	chr8:8353668-8354188	GM12878	blood:	n/a	chr8:8353725-8353734
38	BCLAF1	chr8:8310038-8310609	GM12878	blood:	n/a	n/a
39	BCLAF1	chr8:8310124-8310538	GM12878	blood:	n/a	n/a
40	BCLAF1	chr8:8353515-8354310	GM12878	blood:	n/a	chr8:8353725-8353734
41	BCLAF1	chr8:8350255-8351074	GM12878	blood:	n/a	n/a
42	BHLHE40	chr8:8284870-8286026	HepG2	liver:	n/a	chr8:8285292-8285305 chr8:8285288-8285309
43	BHLHE40	chr8:8313440-8313517	K562	blood:	n/a	n/a
44	BHLHE40	chr8:8285206-8285429	K562	blood:	n/a	chr8:8285292-8285305 chr8:8285288-8285309
45	BHLHE40	chr8:8286354-8287280	HepG2	liver:	n/a	n/a
46	BHLHE40	chr8:8285203-8285486	HepG2	liver:	n/a	chr8:8285292-8285305 chr8:8285288-8285309
47	BHLHE40	chr8:8350545-8350910	GM12878	blood:	n/a	n/a
48	BHLHE40	chr8:8285152-8285676	HepG2	liver:	n/a	chr8:8285292-8285305 chr8:8285288-8285309
49	BHLHE40	chr8:8310177-8310477	GM12878	blood:	n/a	n/a
50	BHLHE40	chr8:8313428-8313566	A549	lung:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:8313504-8313554	HEK293	kidney:	embryo
2	chr8:8313504-8313554	Hela-S3	cervix:	n/a
3	chr8:8313504-8313554	MCF10A-Er-Src	breast:	n/a
4	chr8:8313504-8313554	AG04450	lung:	fetal
5	chr8:8341955-8342005	HRE	kidney:	n/a
6	chr8:8313504-8313554	GM12878	blood:	n/a
7	chr8:8341955-8342005	LNCaP	prostate:	n/a
8	chr8:8341955-8342005	NHBE	bronchial:	n/a
9	chr8:8318774-8318824	RPTEC	kidney:	n/a
10	chr8:8283032-8283082	HCF	heart:	n/a
11	chr8:8318774-8318824	NHBE	bronchial:	n/a
12	chr8:8313504-8313554	NT2-D1	testis:	n/a
13	chr8:8318774-8318824	CMK	blood:	n/a
14	chr8:8318774-8318824	ECC-1	luminal epithelium:	n/a
15	chr8:8283032-8283082	HEEpiC	esophagus:	n/a
16	chr8:8313504-8313554	HepG2	liver:	n/a
17	chr8:8341955-8342005	HCT-116	colon:	n/a
18	chr8:8283032-8283082	AG04450	lung:	fetal
19	chr8:8341955-8342005	CMK	blood:	n/a
20	chr8:8318774-8318824	HRPEpiC	eye:	n/a
21	chr8:8313504-8313554	SK-N-MC	brain:	n/a
22	chr8:8341955-8342005	NH-A	brain:	n/a
23	chr8:8313504-8313554	PFSK-1	brain:	n/a
24	chr8:8318774-8318824	HAEpiC	amniotic membrane:	n/a
25	chr8:8313504-8313554	HIPEpiC	eye:	n/a
26	chr8:8283032-8283082	HCPEpiC	choroid plexus:	n/a
27	chr8:8341955-8342005	AG04450	lung:	fetal
28	chr8:8283032-8283082	HCM	heart:	n/a
29	chr8:8313504-8313554	HCT-116	colon:	n/a
30	chr8:8313504-8313554	ECC-1	luminal epithelium:	n/a
31	chr8:8313504-8313554	Hepatocyte	liver:	n/a
32	chr8:8318774-8318824	HCM	heart:	n/a
33	chr8:8313504-8313554	HCPEpiC	choroid plexus:	n/a
34	chr8:8318774-8318824	A549	lung:	n/a
35	chr8:8318774-8318824	GM19239	blood:	n/a
36	chr8:8283032-8283082	NHBE	bronchial:	n/a
37	chr8:8341955-8342005	HRPEpiC	eye:	n/a
38	chr8:8318774-8318824	SK-N-SH	brain:	n/a
39	chr8:8318774-8318824	SK-N-SH_RA	brain:	n/a
40	chr8:8318774-8318824	GM12891	blood:	n/a
41	chr8:8313504-8313554	AoSMC	blood vessel:	n/a
42	chr8:8341955-8342005	AoSMC	blood vessel:	n/a
43	chr8:8283032-8283082	GM06990	blood:	n/a
44	chr8:8318774-8318824	IMR90	lung:	fetal
45	chr8:8283032-8283082	HCT-116	colon:	n/a
46	chr8:8318774-8318824	HepG2	liver:	n/a
47	chr8:8341955-8342005	SK-N-SH	brain:	n/a
48	chr8:8283032-8283082	GM12878	blood:	n/a
49	chr8:8283032-8283082	HAEpiC	amniotic membrane:	n/a
50	chr8:8283032-8283082	HPAEpiC	pulmonary alveolar:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:8307087..8309406-chr8:8317216..8320167,2	MCF-7	breast:
2	chr8:8336166..8336956-chr8:8365242..8366153,3	MCF-7	breast:
3	chr8:8299483..8301064-chr8:8302628..8304305,2	K562	blood:
4	chr8:8281489..8283205-chr8:8283537..8285806,2	MCF-7	breast:
5	chr8:8297402..8302075-chr8:8309900..8314859,7	MCF-7	breast:
6	chr8:8241273..8244866-chr8:8311320..8315481,8	MCF-7	breast:
7	chr8:8237781..8239370-chr8:8268947..8270951,2	MCF-7	breast:
8	chr8:8243706..8245938-chr8:8270141..8271973,2	MCF-7	breast:
9	chr8:8242907..8245706-chr8:8295976..8300172,6	MCF-7	breast:
10	chr8:8312145..8315725-chr8:8317532..8320911,6	MCF-7	breast:
11	chr8:8298645..8300548-chr8:8312022..8313794,2	MCF-7	breast:
12	chr8:8360593..8362443-chr8:8363816..8365760,2	K562	blood:
13	chr8:8242445..8245313-chr8:8297878..8301672,4	MCF-7	breast:
14	chr8:8317400..8319199-chr8:8344944..8347907,2	MCF-7	breast:
15	chr8:8285563..8288242-chr8:8289388..8292203,2	K562	blood:
16	chr8:8317141..8321564-chr8:8323708..8327409,4	MCF-7	breast:
17	chr8:8239788..8242444-chr8:8287010..8288532,2	MCF-7	breast:
18	chr8:8242160..8245521-chr8:8318713..8321604,3	MCF-7	breast:
19	chr8:8307359..8308990-chr8:8310543..8313387,3	MCF-7	breast:
20	chr8:8145200..8147453-chr8:8312155..8314860,2	MCF-7	breast:
21	chr8:8295699..8297664-chr8:8297694..8299367,2	MCF-7	breast:
22	chr8:8242477..8244553-chr8:8320092..8324260,3	MCF-7	breast:
23	chr8:8295699..8297664-chr8:8297694..8299367,2	MCF-7	breast:
24	chr8:8297402..8302075-chr8:8309900..8314859,7	MCF-7	breast:
25	chr8:8234038..8235691-chr8:8350629..8352175,2	MCF-7	breast:
26	chr8:8307359..8308990-chr8:8310543..8313387,3	MCF-7	breast:
27	chr8:8240682..8243465-chr8:8266165..8269097,2	MCF-7	breast:
28	chr8:8308652..8310168-chr8:8314593..8316228,2	MCF-7	breast:
29	chr8:8306469..8311532-chr8:8316315..8320180,6	MCF-7	breast:
30	chr8:8346656..8348719-chr8:8355280..8357515,2	K562	blood:
31	chr8:8308652..8310168-chr8:8314593..8316228,2	MCF-7	breast:
32	chr8:8285563..8288242-chr8:8289388..8292203,2	K562	blood:
33	chr8:8269803..8273225-chr8:8273897..8276218,3	K562	blood:
34	chr8:8286859..8289510-chr8:8290140..8291896,2	MCF-7	breast:
35	chr8:8276737..8279265-chr8:8282228..8283969,2	K562	blood:
36	chr8:8311665..8315626-chr8:8317447..8320934,9	MCF-7	breast:
37	chr8:8241927..8245169-chr8:8316549..8319625,5	MCF-7	breast:
38	chr8:8301355..8304096-chr8:8318371..8320187,2	MCF-7	breast:
39	chr8:8317671..8320936-chr8:8323021..8325939,5	MCF-7	breast:
40	chr8:8299017..8300539-chr8:8317523..8321166,3	MCF-7	breast:
41	chr8:8174141..8174643-chr8:8351385..8352080,2	K562	blood:
42	chr8:8243810..8245986-chr8:8307375..8310131,2	MCF-7	breast:
43	chr8:8286859..8289510-chr8:8290140..8291896,2	MCF-7	breast:
44	chr8:8237866..8240823-chr8:8310722..8313327,2	MCF-7	breast:
45	chr8:8278185..8279913-chr8:8280272..8281825,2	MCF-7	breast:
46	chr8:8310535..8312786-chr8:8315430..8317371,2	MCF-7	breast:
47	chr8:8336166..8336977-chr8:8365242..8366154,6	MCF-7	breast:
48	chr8:8298645..8300548-chr8:8312022..8313794,2	MCF-7	breast:
49	chr8:8299483..8301064-chr8:8302628..8304305,2	K562	blood:
50	chr8:8310535..8312786-chr8:8315430..8317371,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRAGMIN.1-1	chr8:8279934-8280523	ENSG00000253505
2	lnc-PRAGMIN.1-2	chr8:8314419-8314592	ENSG00000254153
3	lnc-PRAGMIN.1-8	chr8:8340447-8340532	NONHSAT124876
4	lnc-PRAGMIN.1-2	chr8:8315919-8316036	ENSG00000254153
5	lnc-PRAGMIN.1-8	chr8:8344925-8345359	NONHSAT124876
6	lnc-PRAGMIN.1-1	chr8:8281998-8282142	ENSG00000253505
7	lnc-PRAGMIN.1-2	chr8:8318630-8318847	ENSG00000254153
8	lnc-PRAGMIN.1-8	chr8:8327533-8327591	NONHSAT124876
9	lnc-PRAGMIN.1-1	chr8:8272200-8272611	ENSG00000253505
10	lnc-PRAGMIN.1-1	chr8:8281998-8282088	ENSG00000253505
11	lnc-AC068020.1-4	chr8:8322957-8323060	NONHSAT124875
12	lnc-AC068020.1-4	chr8:8328275-8328408	NONHSAT124875

No data

Variant related genes	Relation type
ENSG00000254153	TF binding region
ENSG00000253505	TF binding region
ENSG00000254153	CpG island
ENSG00000253505	CpG island
ENSG00000254153	chromatin interactions
ENSG00000253505	chromatin interactions
ENSG00000182319	chromatin interactions

Extended variants
information (count: 5473 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:5473 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2920989	chr8:8262897-8262898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373008569	chr8:8262937-8262938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115446121	chr8:8262946-8262947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62497508	chr8:8262969-8262970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140666107	chr8:8262984-8262985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71824845	chr8:8263007-8263008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61515355	chr8:8263015-8263016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372718080	chr8:8263016-8263017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554515499	chr8:8263053-8263054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114400070	chr8:8263058-8263059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111293508	chr8:8263082-8263083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189219938	chr8:8263105-8263106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577130084	chr8:8263107-8263108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192184277	chr8:8263114-8263115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201951499	chr8:8263134-8263135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200673498	chr8:8263140-8263141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374422012	chr8:8263141-8263142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72422527	chr8:8263142-8263143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71217296	chr8:8263158-8263159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184350932	chr8:8263183-8263184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2945869	chr8:8263259-8263260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2920988	chr8:8263260-8263261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2945868	chr8:8263266-8263267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2945867	chr8:8263324-8263325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531313683	chr8:8263339-8263340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541995534	chr8:8263350-8263351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201654493	chr8:8263359-8263360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562094654	chr8:8263391-8263392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545075909	chr8:8263392-8263393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540510086	chr8:8263394-8263395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375601640	chr8:8263410-8263411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532448723	chr8:8263429-8263430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143787512	chr8:8263430-8263431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569088459	chr8:8263442-8263443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572670482	chr8:8263452-8263453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79004292	chr8:8263464-8263465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11780979	chr8:8263482-8263483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs376962231	chr8:8263498-8263499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373349787	chr8:8263501-8263502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568043478	chr8:8263526-8263527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533515172	chr8:8263540-8263541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553733396	chr8:8263545-8263546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561491093	chr8:8263549-8263550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6991227	chr8:8263552-8263553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs557431655	chr8:8263566-8263567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113262281	chr8:8263568-8263569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376999970	chr8:8263576-8263577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116206417	chr8:8263598-8263599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11785930	chr8:8263629-8263630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs530374227	chr8:8263639-8263640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:1090 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8249000-8266200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:8254800-8266200	Weak transcription	Fetal Kidney	kidney
3	chr8:8257400-8264800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:8258000-8264800	Weak transcription	HepG2	liver
5	chr8:8258200-8264800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:8258200-8264800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:8260400-8264800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:8260400-8266000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:8261000-8264800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:8263200-8265000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:8263600-8265000	Enhancers	Gastric	stomach
12	chr8:8264000-8264200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:8264000-8265600	Enhancers	Stomach Mucosa	stomach
14	chr8:8264200-8264400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:8264200-8265400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr8:8264200-8266600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:8264400-8265600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:8264600-8264800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:8264600-8265600	Enhancers	A549	lung
20	chr8:8264800-8265000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:8264800-8265000	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:8264800-8265200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:8264800-8265200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:8264800-8265200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:8264800-8265200	Enhancers	HepG2	liver
26	chr8:8264800-8265200	Enhancers	HMEC	breast
27	chr8:8264800-8265200	Enhancers	NHEK	skin
28	chr8:8264800-8265400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:8264800-8265400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:8264800-8265600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:8264800-8265600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:8264800-8266600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:8265000-8266000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:8265000-8266600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:8265000-8269000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:8265000-8269400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:8265200-8266200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:8265200-8266400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:8265200-8269000	Weak transcription	NHEK	skin
40	chr8:8265400-8266200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:8265400-8270400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:8265600-8266000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:8265600-8266000	Weak transcription	Stomach Mucosa	stomach
44	chr8:8265600-8267600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:8265600-8269000	Weak transcription	A549	lung
46	chr8:8265600-8269200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:8266000-8266600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr8:8266000-8266600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:8266000-8266600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr8:8266000-8266600	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links