Variant report

Variant	nsv872948
Chromosome Location	chr1:195872295-196236425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1653)
CpG islands
(count:183)
Chromatin interactive
region (count:142)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1653 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:196117541-196117876	K562	blood:	n/a	chr1:196117542-196117558
2	ARID3A	chr1:195919595-195919604	K562	blood:	n/a	n/a
3	ARID3A	chr1:196117554-196117875	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:196135561-196135602	K562	blood:	n/a	n/a
5	ARID3A	chr1:196047787-196048155	K562	blood:	n/a	n/a
6	ARID3A	chr1:195977008-195977310	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:196005358-196005385	K562	blood:	n/a	n/a
8	ARID3A	chr1:195873048-195873198	K562	blood:	n/a	n/a
9	ARID3A	chr1:195872368-195872752	K562	blood:	n/a	n/a
10	ARID3A	chr1:196116766-196116872	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:196101898-196101993	K562	blood:	n/a	n/a
12	ARID3A	chr1:195909330-195909332	K562	blood:	n/a	n/a
13	ARID3A	chr1:195966143-195966292	K562	blood:	n/a	n/a
14	ATF1	chr1:195974673-195974699	K562	blood:	n/a	n/a
15	ATF1	chr1:196150338-196150600	K562	blood:	n/a	n/a
16	ATF1	chr1:196145565-196145830	K562	blood:	n/a	n/a
17	ATF1	chr1:196058516-196058524	K562	blood:	n/a	n/a
18	ATF1	chr1:195934624-195934871	K562	blood:	n/a	n/a
19	ATF1	chr1:195872207-195872650	K562	blood:	n/a	n/a
20	ATF3	chr1:196084865-196085028	K562	blood:	n/a	n/a
21	ATF3	chr1:196047912-196048181	K562	blood:	n/a	n/a
22	ATF3	chr1:196150155-196150653	A549	lung:	n/a	n/a
23	BACH1	chr1:196170675-196170707	K562	blood:	n/a	n/a
24	BACH1	chr1:196047833-196048241	H1-hESC	embryonic stem cell:	n/a	chr1:196048015-196048029
25	BACH1	chr1:196145870-196145898	K562	blood:	n/a	n/a
26	BACH1	chr1:196047726-196048424	K562	blood:	n/a	chr1:196048015-196048029
27	BACH1	chr1:195949240-195949338	K562	blood:	n/a	n/a
28	BATF	chr1:196122197-196122443	GM12878	blood:	n/a	n/a
29	BATF	chr1:196122193-196122432	GM12878	blood:	n/a	n/a
30	BCL11A	chr1:196122194-196122473	GM12878	blood:	n/a	n/a
31	BCL3	chr1:196014848-196015078	GM12878	blood:	n/a	n/a
32	BHLHE40	chr1:196121277-196121492	K562	blood:	n/a	n/a
33	BHLHE40	chr1:196047988-196048167	K562	blood:	n/a	n/a
34	BHLHE40	chr1:196122209-196122408	GM12878	blood:	n/a	n/a
35	BHLHE40	chr1:195997651-195997653	K562	blood:	n/a	n/a
36	BHLHE40	chr1:196084884-196085034	K562	blood:	n/a	n/a
37	BHLHE40	chr1:196150445-196150467	K562	blood:	n/a	n/a
38	CBX3	chr1:196084822-196085224	K562	blood:	n/a	n/a
39	CBX3	chr1:196150147-196151182	HCT-116	colon:	n/a	n/a
40	CBX3	chr1:196150161-196150675	K562	blood:	n/a	n/a
41	CBX3	chr1:196070301-196070636	K562	blood:	n/a	n/a
42	CBX3	chr1:195920429-195920798	K562	blood:	n/a	n/a
43	CBX3	chr1:196163279-196163637	K562	blood:	n/a	n/a
44	CBX3	chr1:195885834-195886254	K562	blood:	n/a	n/a
45	CBX3	chr1:196047874-196048274	HCT-116	colon:	n/a	n/a
46	CCNT2	chr1:195872434-195872662	K562	blood:	n/a	n/a
47	CCNT2	chr1:196047999-196048144	K562	blood:	n/a	n/a
48	CCNT2	chr1:195980142-195980485	K562	blood:	n/a	n/a
49	CCNT2	chr1:196210369-196210524	K562	blood:	n/a	n/a
50	CEBPB	chr1:195960802-195961080	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:196112818-196112868	HIPEpiC	eye:	n/a
2	chr1:195972365-195972415	SAEC	small airway:	n/a
3	chr1:196112818-196112868	U87	brain:	n/a
4	chr1:196112818-196112868	GM06990	blood:	n/a
5	chr1:196112818-196112868	NHDF-neo	bronchial:	n/a
6	chr1:196112818-196112868	PFSK-1	brain:	n/a
7	chr1:196112818-196112868	K562	blood:	n/a
8	chr1:196177626-196177676	SK-N-SH	brain:	n/a
9	chr1:196177626-196177676	GM06990	blood:	n/a
10	chr1:196177626-196177676	IMR90	lung:	fetal
11	chr1:196177626-196177676	GM19239	blood:	n/a
12	chr1:195972365-195972415	GM06990	blood:	n/a
13	chr1:195972365-195972415	SK-N-SH_RA	brain:	n/a
14	chr1:196112818-196112868	Hela-S3	cervix:	n/a
15	chr1:196177626-196177676	HUVEC	blood vessel:	n/a
16	chr1:195972365-195972415	NH-A	brain:	n/a
17	chr1:196112818-196112868	HEK293	kidney:	embryo
18	chr1:196177626-196177676	HIPEpiC	eye:	n/a
19	chr1:196177626-196177676	GM12891	blood:	n/a
20	chr1:196112818-196112868	HMEC	breast:	n/a
21	chr1:195972365-195972415	PANC-1	pancreas:	n/a
22	chr1:195972365-195972415	HCPEpiC	choroid plexus:	n/a
23	chr1:196112818-196112868	RPTEC	kidney:	n/a
24	chr1:196177626-196177676	RPTEC	kidney:	n/a
25	chr1:196112818-196112868	MCF-7	breast:	n/a
26	chr1:196112818-196112868	NT2-D1	testis:	n/a
27	chr1:195972365-195972415	HNPCEpiC	eye:	n/a
28	chr1:195972365-195972415	GM12878	blood:	n/a
29	chr1:196112818-196112868	SAEC	small airway:	n/a
30	chr1:195972365-195972415	HRCEpiC	kidney:	n/a
31	chr1:196112818-196112868	AG09319	gingival:	n/a
32	chr1:196177626-196177676	SKMC	muscle:	n/a
33	chr1:196177626-196177676	SK-N-SH_RA	brain:	n/a
34	chr1:195972365-195972415	GM12891	blood:	n/a
35	chr1:196177626-196177676	ProgFib	skin:	n/a
36	chr1:196177626-196177676	HRCEpiC	kidney:	n/a
37	chr1:196112818-196112868	HAEpiC	amniotic membrane:	n/a
38	chr1:196177626-196177676	HEEpiC	esophagus:	n/a
39	chr1:196112818-196112868	Jurkat	blood:	n/a
40	chr1:195972365-195972415	NT2-D1	testis:	n/a
41	chr1:196112818-196112868	NH-A	brain:	n/a
42	chr1:196112818-196112868	PrEC	prostate:	n/a
43	chr1:196177626-196177676	AG04449	skin:	fetal
44	chr1:196112818-196112868	AG04449	skin:	fetal
45	chr1:196112818-196112868	PANC-1	pancreas:	n/a
46	chr1:195972365-195972415	HEK293	kidney:	embryo
47	chr1:196112818-196112868	SKMC	muscle:	n/a
48	chr1:196177626-196177676	AG09319	gingival:	n/a
49	chr1:195972365-195972415	AG10803	skin:	n/a
50	chr1:196177626-196177676	ovcar-3	ovarian:	n/a

(count:142 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:196042086..196044811-chr1:196045371..196049542,3	K562	blood:
2	chr1:196053015..196055088-chr1:196056240..196058402,2	K562	blood:
3	chr1:195933946..195935756-chr1:195940527..195943521,2	K562	blood:
4	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:
5	chr1:195908909..195909846-chr1:196117249..196118180,3	MCF-7	breast:
6	chr1:196200132..196202778-chr1:196204866..196207175,2	K562	blood:
7	chr1:196051756..196054719-chr1:196058554..196060673,2	MCF-7	breast:
8	chr1:196026031..196027668-chr1:196032772..196035089,2	K562	blood:
9	chr1:195908049..195910534-chr1:195911759..195915104,3	K562	blood:
10	chr1:196149563..196151314-chr1:196152505..196155179,2	MCF-7	breast:
11	chr1:195953922..195957101-chr1:195959349..195962139,3	K562	blood:
12	chr1:196054516..196055096-chr13:20745295..20746091,2	MCF-7	breast:
13	chr1:196144873..196146636-chr1:196151703..196153907,2	K562	blood:
14	chr1:196212167..196214329-chr1:196214719..196216425,2	MCF-7	breast:
15	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
16	chr1:196030521..196032166-chr1:196617172..196619617,2	K562	blood:
17	chr1:195960940..195963536-chr1:195979174..195981179,2	K562	blood:
18	chr1:195890973..195893135-chr1:195899098..195901610,2	K562	blood:
19	chr1:196232005..196234136-chr1:196236276..196237836,2	K562	blood:
20	chr1:196080775..196083436-chr1:196084849..196086558,2	K562	blood:
21	chr1:196039321..196041899-chr1:196043061..196046155,3	K562	blood:
22	chr1:196024750..196028209-chr1:196030222..196033690,4	K562	blood:
23	chr1:195946889..195949248-chr1:195951853..195953938,2	K562	blood:
24	chr1:195953922..195957101-chr1:195959349..195962139,3	K562	blood:
25	chr1:196093766..196096415-chr1:196097794..196099859,3	K562	blood:
26	chr1:195930176..195932794-chr1:195935664..195937218,2	K562	blood:
27	chr1:195946889..195949248-chr1:195951853..195953938,2	K562	blood:
28	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
29	chr1:196084793..196086463-chr1:196093018..196095488,2	K562	blood:
30	chr1:196034151..196037732-chr1:196037758..196041366,3	K562	blood:
31	chr1:196222141..196224941-chr1:196228295..196230138,2	K562	blood:
32	chr1:195950441..195952834-chr1:195961888..195963908,2	K562	blood:
33	chr1:195988890..195990860-chr1:195993598..195995590,2	K562	blood:
34	chr1:196053015..196055088-chr1:196056240..196058402,2	K562	blood:
35	chr1:196220387..196223344-chr1:196224082..196227268,3	K562	blood:
36	chr1:196039321..196041899-chr1:196043061..196046155,3	K562	blood:
37	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:
38	chr1:196025146..196027992-chr1:196038512..196040205,2	K562	blood:
39	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
40	chr1:196051756..196054719-chr1:196058554..196060673,2	MCF-7	breast:
41	chr1:196119772..196121474-chr1:196127458..196129985,2	MCF-7	breast:
42	chr1:196176144..196178935-chr1:196181412..196184306,2	K562	blood:
43	chr1:196025146..196027992-chr1:196038512..196040205,2	K562	blood:
44	chr1:195868249..195869806-chr1:196117660..196119687,2	K562	blood:
45	chr1:196222811..196225411-chr1:196227042..196229805,2	MCF-7	breast:
46	chr1:196117077..196119162-chr1:196122659..196124600,2	K562	blood:
47	chr1:195922958..195925594-chr1:195930785..195932321,2	K562	blood:
48	chr1:195891817..195893332-chr1:196109903..196112041,2	K562	blood:
49	chr1:195908986..195909573-chr1:196113721..196114467,3	MCF-7	breast:
50	chr1:196034889..196036641-chr1:196039866..196042568,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNT2-1	chr1:196014057-196014669	XLOC_001138
2	lnc-KCNT2-1	chr1:196030127-196030203	XLOC_001138
3	lnc-KCNT2-1	chr1:196129500-196129619	XLOC_001138
4	lnc-KCNT2-1	chr1:196014126-196014669	XLOC_001138

No data

Variant related genes	Relation type
ENSG00000227421	TF binding region
ENSG00000227421	CpG island
CFTR	miRNA target sites
SDF2	miRNA target sites

Extended variants
information (count: 7695 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:7695 , 50 per page) page: 1 2 3 4 5 6 7 ... 154

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10801490	chr1:195872295-195872296	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547399636	chr1:195872329-195872330	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529150440	chr1:195872341-195872342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs550874169	chr1:195872409-195872410	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540976698	chr1:195872410-195872411	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113810058	chr1:195872428-195872429	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115552174	chr1:195872434-195872435	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551061397	chr1:195872449-195872450	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs3010149	chr1:195872456-195872457	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533611191	chr1:195872510-195872511	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555082059	chr1:195872530-195872531	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186862005	chr1:195872547-195872548	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs574708155	chr1:195872555-195872556	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs114682390	chr1:195872570-195872571	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148856021	chr1:195872587-195872588	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs543109375	chr1:195872599-195872600	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189727025	chr1:195872611-195872612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181123988	chr1:195872621-195872622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115688933	chr1:195872653-195872654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561403006	chr1:195872745-195872746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182113138	chr1:195872807-195872808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375092827	chr1:195872832-195872833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572446970	chr1:195872859-195872860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200159103	chr1:195872861-195872862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201010165	chr1:195872868-195872869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11312865	chr1:195872869-195872870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561397484	chr1:195872870-195872871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75579257	chr1:195872881-195872882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529083037	chr1:195872922-195872923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7530390	chr1:195872993-195872994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs3010150	chr1:195873063-195873064	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111442612	chr1:195873071-195873072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187797962	chr1:195873080-195873081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143479351	chr1:195873114-195873115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566334919	chr1:195873119-195873120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373907847	chr1:195873156-195873157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533829995	chr1:195873161-195873162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193126811	chr1:195873195-195873196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566990090	chr1:195873235-195873236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185671569	chr1:195873246-195873247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113488754	chr1:195873252-195873253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1901423	chr1:195873259-195873260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532803098	chr1:195873270-195873271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578131632	chr1:195873312-195873313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538957325	chr1:195873330-195873331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554499267	chr1:195873346-195873347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547794894	chr1:195873365-195873366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572330212	chr1:195873375-195873376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143398357	chr1:195873416-195873417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1901422	chr1:195873419-195873420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195871000-195876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:195871800-195872600	Flanking Active TSS	K562	blood
3	chr1:195872000-195872400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:195872400-195876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:195872600-195873200	Enhancers	K562	blood
6	chr1:195876600-195876800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:195876800-195877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:195876800-195877000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:195876800-195877400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr1:195876800-195878000	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:195876800-195878000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:195876800-195878400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:195876800-195878400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:195876800-195878400	Enhancers	NHEK	skin
15	chr1:195876800-195878600	Enhancers	HMEC	breast
16	chr1:195877000-195877400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:195877000-195877400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:195877000-195877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:195877000-195877800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:195877000-195878600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:195877400-195877600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:195877400-195878800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:195877400-195878800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:195877600-195878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:195877600-195878400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:195877600-195878600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:195878000-195885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:195878600-195891400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:195885000-195885200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr1:195903800-195904200	Enhancers	Fetal Lung	lung
31	chr1:195904200-195904600	Active TSS	Fetal Lung	lung
32	chr1:195904400-195904800	Enhancers	Fetal Brain Female	brain
33	chr1:195908600-195909600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:195908800-195909400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:195908800-195909600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr1:195908800-195909600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:195908800-195909800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:195909000-195909400	Enhancers	Gastric	stomach
39	chr1:195909000-195909600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:195909200-195909400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:195909200-195910400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:195909200-195910400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:195909200-195910400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:195909400-195910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:195909400-195910600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:195909600-195910800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:195909600-195910800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:195910200-195910600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:195910400-195911000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:195910600-195910800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links