Variant report

Variant	nsv1019330
Chromosome Location	chr8:61697104-61744335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:508)
CpG islands
(count:61)
Chromatin interactive
region (count:33)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:61708269-61708837	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:61705468-61705844	HepG2	liver:	n/a	n/a
3	ATF1	chr8:61731937-61732120	K562	blood:	n/a	n/a
4	ATF1	chr8:61738205-61738315	K562	blood:	n/a	n/a
5	ATF2	chr8:61705206-61705883	GM12878	blood:	n/a	n/a
6	ATF2	chr8:61705261-61705772	GM12878	blood:	n/a	n/a
7	ATF3	chr8:61705329-61705785	GM12878	blood:	n/a	chr8:61705598-61705607
8	ATF3	chr8:61705472-61705723	K562	blood:	n/a	chr8:61705598-61705607
9	ATF3	chr8:61705415-61705731	H1-hESC	embryonic stem cell:	n/a	chr8:61705598-61705607
10	BACH1	chr8:61705378-61705381	K562	blood:	n/a	n/a
11	BATF	chr8:61705360-61705762	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:61705296-61705780	GM12878	blood:	n/a	n/a
13	BCL11A	chr8:61705361-61705725	GM12878	blood:	n/a	n/a
14	BCL11A	chr8:61720334-61720571	GM12878	blood:	n/a	n/a
15	BCLAF1	chr8:61705178-61705800	GM12878	blood:	n/a	n/a
16	BCLAF1	chr8:61705168-61705840	GM12878	blood:	n/a	n/a
17	BHLHE40	chr8:61720353-61720668	GM12878	blood:	n/a	n/a
18	BHLHE40	chr8:61705395-61705829	HepG2	liver:	n/a	n/a
19	BHLHE40	chr8:61705442-61705705	HepG2	liver:	n/a	n/a
20	BHLHE40	chr8:61720375-61720755	K562	blood:	n/a	n/a
21	BHLHE40	chr8:61705145-61705812	K562	blood:	n/a	n/a
22	BHLHE40	chr8:61705429-61705786	HepG2	liver:	n/a	n/a
23	BHLHE40	chr8:61705072-61705872	GM12878	blood:	n/a	n/a
24	BHLHE40	chr8:61703977-61704125	K562	blood:	n/a	n/a
25	CBX3	chr8:61720323-61720890	HCT-116	colon:	n/a	chr8:61720323-61720334
26	CBX3	chr8:61720264-61720787	K562	blood:	n/a	chr8:61720323-61720334
27	CBX3	chr8:61720177-61720799	HCT-116	colon:	n/a	chr8:61720323-61720334
28	CCNT2	chr8:61729754-61729893	K562	blood:	n/a	n/a
29	CCNT2	chr8:61705055-61705610	K562	blood:	n/a	n/a
30	CEBPB	chr8:61705542-61705784	GM12878	blood:	n/a	n/a
31	CEBPB	chr8:61724611-61724888	HepG2	liver:	n/a	n/a
32	CEBPB	chr8:61705331-61705716	K562	blood:	n/a	n/a
33	CEBPB	chr8:61703956-61704087	K562	blood:	n/a	n/a
34	CEBPB	chr8:61698776-61699077	HepG2	liver:	n/a	chr8:61698919-61698930
35	CEBPB	chr8:61698832-61699066	K562	blood:	n/a	chr8:61698919-61698930
36	CEBPB	chr8:61725658-61725843	HepG2	liver:	n/a	chr8:61725720-61725731
37	CEBPB	chr8:61729278-61729328	HepG2	liver:	n/a	n/a
38	CEBPB	chr8:61705234-61705908	GM12878	blood:	n/a	n/a
39	CEBPB	chr8:61708679-61708868	A549	lung:	n/a	n/a
40	CEBPB	chr8:61730871-61730876	K562	blood:	n/a	n/a
41	CEBPD	chr8:61703730-61704170	K562	blood:	n/a	n/a
42	CEBPD	chr8:61703725-61704200	K562	blood:	n/a	n/a
43	CHD1	chr8:61709121-61709141	GM12878	blood:	n/a	n/a
44	CHD1	chr8:61705506-61705800	GM12878	blood:	n/a	n/a
45	CHD1	chr8:61706103-61706182	GM12878	blood:	n/a	n/a
46	CHD2	chr8:61705266-61705749	GM12878	blood:	n/a	n/a
47	CHD2	chr8:61720421-61720654	GM12878	blood:	n/a	n/a
48	CREB1	chr8:61709117-61709577	GM12878	blood:	n/a	n/a
49	CREB1	chr8:61709228-61709550	GM12878	blood:	n/a	n/a
50	CTCF	chr8:61729606-61729730	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:61705332-61705382	HCF	heart:	n/a
2	chr8:61705332-61705382	U87	brain:	n/a
3	chr8:61705332-61705382	SK-N-MC	brain:	n/a
4	chr8:61705332-61705382	HCM	heart:	n/a
5	chr8:61705332-61705382	IMR90	lung:	fetal
6	chr8:61705332-61705382	HEK293	kidney:	embryo
7	chr8:61705332-61705382	HCT-116	colon:	n/a
8	chr8:61705332-61705382	PFSK-1	brain:	n/a
9	chr8:61705332-61705382	ProgFib	skin:	n/a
10	chr8:61705332-61705382	HRCEpiC	kidney:	n/a
11	chr8:61705332-61705382	HEEpiC	esophagus:	n/a
12	chr8:61705332-61705382	SKMC	muscle:	n/a
13	chr8:61705332-61705382	HNPCEpiC	eye:	n/a
14	chr8:61705332-61705382	NB4	blood:	n/a
15	chr8:61705332-61705382	Jurkat	blood:	n/a
16	chr8:61705332-61705382	AG04450	lung:	fetal
17	chr8:61705332-61705382	AG04449	skin:	fetal
18	chr8:61705332-61705382	HRPEpiC	eye:	n/a
19	chr8:61705332-61705382	NH-A	brain:	n/a
20	chr8:61705332-61705382	AG10803	skin:	n/a
21	chr8:61705332-61705382	HUVEC	blood vessel:	n/a
22	chr8:61705332-61705382	GM06990	blood:	n/a
23	chr8:61705332-61705382	BE2_C	brain:	n/a
24	chr8:61705332-61705382	RPTEC	kidney:	n/a
25	chr8:61705332-61705382	Hela-S3	cervix:	n/a
26	chr8:61705332-61705382	AG09309	skin:	n/a
27	chr8:61705332-61705382	SAEC	small airway:	n/a
28	chr8:61705332-61705382	T-47D	breast:	n/a
29	chr8:61705332-61705382	A549	lung:	n/a
30	chr8:61705332-61705382	GM12892	blood:	n/a
31	chr8:61705332-61705382	SK-N-SH	brain:	n/a
32	chr8:61705332-61705382	HMEC	breast:	n/a
33	chr8:61705332-61705382	AG09319	gingival:	n/a
34	chr8:61705332-61705382	K562	blood:	n/a
35	chr8:61705332-61705382	NHBE	bronchial:	n/a
36	chr8:61705332-61705382	GM12891	blood:	n/a
37	chr8:61705332-61705382	H1-hESC	embryonic stem cell:	embryo
38	chr8:61705332-61705382	PANC-1	pancreas:	n/a
39	chr8:61705332-61705382	ECC-1	luminal epithelium:	n/a
40	chr8:61705332-61705382	MCF-7	breast:	n/a
41	chr8:61705332-61705382	GM12878	blood:	n/a
42	chr8:61705332-61705382	CMK	blood:	n/a
43	chr8:61705332-61705382	LNCaP	prostate:	n/a
44	chr8:61705332-61705382	MCF10A-Er-Src	breast:	n/a
45	chr8:61705332-61705382	Hepatocyte	liver:	n/a
46	chr8:61705332-61705382	HL-60	blood:	n/a
47	chr8:61705332-61705382	PrEC	prostate:	n/a
48	chr8:61705332-61705382	AoSMC	blood vessel:	n/a
49	chr8:61705332-61705382	HIPEpiC	eye:	n/a
50	chr8:61705332-61705382	SK-N-SH_RA	brain:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61701118..61702807-chr8:61703782..61705593,2	MCF-7	breast:
2	chr8:61710564..61712075-chr8:61713970..61716814,2	K562	blood:
3	chr8:61697366..61699361-chr8:61701712..61703525,2	K562	blood:
4	chr8:61739971..61741580-chr8:61744602..61746196,2	K562	blood:
5	chr8:61697501..61700243-chr8:61705884..61707570,2	MCF-7	breast:
6	chr8:61712180..61713990-chr8:61715650..61717311,2	K562	blood:
7	chr8:61697795..61699599-chr8:61702942..61705336,2	MCF-7	breast:
8	chr8:61713261..61715808-chr8:61718950..61722058,4	K562	blood:
9	chr8:61702958..61705260-chr8:61710048..61711592,2	K562	blood:
10	chr8:61737808..61740044-chr8:61741202..61743942,2	K562	blood:
11	chr8:61739971..61742969-chr8:61743968..61746196,2	K562	blood:
12	chr8:61697501..61700243-chr8:61705884..61707570,2	MCF-7	breast:
13	chr8:61697095..61698764-chr8:61726068..61728878,2	K562	blood:
14	chr8:61697795..61699599-chr8:61702942..61705336,2	MCF-7	breast:
15	chr8:61710564..61712075-chr8:61713970..61716814,2	K562	blood:
16	chr8:61712180..61713990-chr8:61715650..61717311,2	K562	blood:
17	chr8:61737808..61740044-chr8:61741202..61743942,2	K562	blood:
18	chr8:61697095..61698764-chr8:61726068..61728878,2	K562	blood:
19	chr8:61720046..61722227-chr8:61728639..61730984,2	K562	blood:
20	chr3:64293527..64294027-chr8:61731973..61732517,2	MCF-7	breast:
21	chr8:61739971..61742969-chr8:61743968..61746196,2	K562	blood:
22	chr8:61726165..61727820-chr8:61732053..61733568,2	K562	blood:
23	chr8:61714225..61717051-chr8:61718914..61720605,3	K562	blood:
24	chr8:61697366..61699361-chr8:61701712..61703525,2	K562	blood:
25	chr8:61702958..61705260-chr8:61710048..61711592,2	K562	blood:
26	chr8:61713261..61715808-chr8:61718950..61722058,4	K562	blood:
27	chr8:61726165..61727820-chr8:61732053..61733568,2	K562	blood:
28	chr8:61738648..61741057-chr8:61768794..61770353,2	MCF-7	breast:
29	chr8:61714225..61717051-chr8:61718914..61720605,3	K562	blood:
30	chr8:61701118..61702807-chr8:61703782..61705593,2	MCF-7	breast:
31	chr8:61590305..61592626-chr8:61717872..61719852,2	K562	blood:
32	chr8:61735291..61738115-chr8:61764523..61766656,2	MCF-7	breast:
33	chr8:61687942..61689827-chr8:61698388..61701380,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA8-7	chr8:61722057-61722165	ENSG00000254432.1
2	lnc-CA8-7	chr8:61721294-61721485	ENSG00000254432.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CHD7	hsa-miR-454-3p	chr8:61737758-61737783

Variant related genes	Relation type
ENSG00000254432	TF binding region
ENSG00000254432	CpG island
ENSG00000254432	chromatin interactions
ENSG00000171316	chromatin interactions

Extended variants
information (count: 1691 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1691 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571420998	chr8:61697156-61697157	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs180918647	chr8:61697181-61697182	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184652325	chr8:61697188-61697189	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572177580	chr8:61697225-61697226	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs72650495	chr8:61697277-61697278	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554578340	chr8:61697288-61697289	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs117673653	chr8:61697291-61697292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372306143	chr8:61697346-61697347	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189969488	chr8:61697481-61697482	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376687024	chr8:61697495-61697496	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112530153	chr8:61697528-61697529	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532780691	chr8:61697537-61697538	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs137996153	chr8:61697548-61697549	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560315131	chr8:61697567-61697568	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149116517	chr8:61697590-61697591	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76127006	chr8:61697597-61697598	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560945134	chr8:61697636-61697637	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs531208265	chr8:61697637-61697638	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143164307	chr8:61697699-61697700	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs528062835	chr8:61697737-61697738	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs571437837	chr8:61697767-61697768	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs181686891	chr8:61697807-61697808	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187158674	chr8:61697892-61697893	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565504299	chr8:61697922-61697923	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535297409	chr8:61697994-61697995	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536356706	chr8:61698007-61698008	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs555372310	chr8:61698044-61698045	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs541573111	chr8:61698066-61698067	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141149444	chr8:61698126-61698127	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs147389259	chr8:61698144-61698145	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577589335	chr8:61698253-61698254	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75857904	chr8:61698290-61698291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78675045	chr8:61698370-61698371	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368014192	chr8:61698395-61698396	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372206684	chr8:61698412-61698413	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542794231	chr8:61698424-61698425	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560813725	chr8:61698458-61698459	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531372661	chr8:61698462-61698463	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181797116	chr8:61698511-61698512	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549491832	chr8:61698574-61698575	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137997060	chr8:61698606-61698607	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532290337	chr8:61698653-61698654	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547249223	chr8:61698710-61698711	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186509832	chr8:61698711-61698712	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144022715	chr8:61698712-61698713	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147304747	chr8:61698794-61698795	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570035132	chr8:61698807-61698808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76540018	chr8:61698847-61698848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537479868	chr8:61698874-61698875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558700813	chr8:61698929-61698930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:1443 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61680000-61698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:61680200-61704200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:61680200-61705200	Weak transcription	Esophagus	oesophagus
4	chr8:61680200-61710400	Weak transcription	Pancreas	Pancrea
5	chr8:61681200-61698600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:61681200-61700400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:61681200-61705200	Weak transcription	Spleen	Spleen
8	chr8:61682200-61705200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:61683600-61711200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:61685200-61704200	Weak transcription	Small Intestine	intestine
11	chr8:61686000-61698600	Weak transcription	Fetal Intestine Small	intestine
12	chr8:61687200-61704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:61687200-61704200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:61687200-61720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:61687400-61704400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:61688800-61719600	Weak transcription	NHEK	skin
17	chr8:61689400-61702600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:61690000-61705200	Weak transcription	Psoas Muscle	Psoas
19	chr8:61690200-61705200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:61691200-61703600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:61691800-61705200	Weak transcription	Colonic Mucosa	Colon
23	chr8:61692200-61698800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:61692200-61719400	Weak transcription	HMEC	breast
25	chr8:61692600-61699400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:61692800-61701000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:61693000-61704200	Weak transcription	Fetal Kidney	kidney
28	chr8:61693600-61697200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:61693600-61697800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:61693600-61698200	Strong transcription	Dnd41	blood
31	chr8:61693800-61697200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:61693800-61697600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:61694000-61697400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:61694000-61697400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:61694000-61703800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:61694000-61705000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:61694400-61698600	Strong transcription	Primary B cells from cord blood	blood
38	chr8:61694600-61697200	Strong transcription	HepG2	liver
39	chr8:61694800-61697200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:61694800-61697200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr8:61694800-61697200	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:61694800-61697600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:61694800-61704000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr8:61694800-61708200	Weak transcription	A549	lung
45	chr8:61695000-61697200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:61695000-61698800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:61695000-61699600	Weak transcription	Fetal Thymus	thymus
48	chr8:61695000-61701000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr8:61695000-61703800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:61695000-61703800	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links