Variant report

Variant	nsv584036
Chromosome Location	chr2:188256158-188369841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1780)
CpG islands
(count:185)
Chromatin interactive
region (count:77)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1780 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:188362596-188363368	K562	blood:	n/a	n/a
2	ARID3A	chr2:188364484-188365250	K562	blood:	n/a	chr2:188365216-188365232
3	ARID3A	chr2:188296673-188297038	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:188365601-188366189	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:188326188-188326206	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:188317827-188318187	K562	blood:	n/a	n/a
7	ARID3A	chr2:188362488-188362990	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:188364564-188365077	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:188326415-188326867	HepG2	liver:	n/a	n/a
10	ATF2	chr2:188340176-188341023	GM12878	blood:	n/a	n/a
11	ATF2	chr2:188312809-188313314	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr2:188364673-188364992	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr2:188365430-188366172	A549	lung:	n/a	n/a
14	ATF3	chr2:188365526-188366189	A549	lung:	n/a	n/a
15	BACH1	chr2:188268698-188269088	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr2:188340236-188340498	GM12878	blood:	n/a	chr2:188340405-188340416
17	BATF	chr2:188340301-188340499	GM12878	blood:	n/a	chr2:188340405-188340416
18	BATF	chr2:188340622-188340923	GM12878	blood:	n/a	n/a
19	BATF	chr2:188327674-188327939	GM12878	blood:	n/a	chr2:188327699-188327707
20	BCL11A	chr2:188340271-188340482	GM12878	blood:	n/a	n/a
21	BCL11A	chr2:188347521-188347836	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:188340655-188340968	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:188340691-188340960	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:188340195-188340620	GM12878	blood:	n/a	n/a
25	BCL3	chr2:188365498-188366223	A549	lung:	n/a	chr2:188366028-188366037
26	BCL3	chr2:188365470-188366277	A549	lung:	n/a	chr2:188366028-188366037
27	BCLAF1	chr2:188312648-188313438	GM12878	blood:	n/a	n/a
28	BCLAF1	chr2:188312732-188313340	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:188268422-188268441	K562	blood:	n/a	n/a
30	BHLHE40	chr2:188268255-188268781	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:188365537-188365857	K562	blood:	n/a	n/a
32	BHLHE40	chr2:188312812-188313323	GM12878	blood:	n/a	n/a
33	BRCA1	chr2:188313072-188313272	GM12878	blood:	n/a	n/a
34	BRCA1	chr2:188326379-188326862	HepG2	liver:	n/a	n/a
35	BRCA1	chr2:188365675-188366568	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr2:188312808-188313187	HCT-116	colon:	n/a	n/a
37	CBX3	chr2:188312818-188313395	HCT-116	colon:	n/a	n/a
38	CBX3	chr2:188312772-188313268	K562	blood:	n/a	n/a
39	CBX3	chr2:188357927-188358279	K562	blood:	n/a	n/a
40	CCNT2	chr2:188369081-188369284	K562	blood:	n/a	n/a
41	CEBPB	chr2:188314715-188314989	A549	lung:	n/a	chr2:188314843-188314854 chr2:188314745-188314757
42	CEBPB	chr2:188265688-188265928	Hela-S3	cervix:	n/a	chr2:188265786-188265797
43	CEBPB	chr2:188299150-188299386	H1-hESC	embryonic stem cell:	n/a	chr2:188299234-188299245
44	CEBPB	chr2:188364709-188365084	K562	blood:	n/a	n/a
45	CEBPB	chr2:188299066-188299414	A549	lung:	n/a	chr2:188299234-188299245
46	CEBPB	chr2:188321192-188321424	K562	blood:	n/a	n/a
47	CEBPB	chr2:188314800-188314996	HepG2	liver:	n/a	chr2:188314843-188314854
48	CEBPB	chr2:188287097-188287392	IMR90	lung:	n/a	chr2:188287267-188287278
49	CEBPB	chr2:188287204-188287335	H1-hESC	embryonic stem cell:	n/a	chr2:188287267-188287278
50	CEBPB	chr2:188312901-188313183	HepG2	liver:	n/a	n/a

(count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:188269443-188269493	ECC-1	luminal epithelium:	n/a
2	chr2:188274544-188274594	AG04449	skin:	fetal
3	chr2:188269443-188269493	ECC-1	luminal epithelium:	n/a
4	chr2:188274544-188274594	AG04449	skin:	fetal
5	chr2:188274544-188274594	GM19239	blood:	n/a
6	chr2:188312833-188312883	HCPEpiC	choroid plexus:	n/a
7	chr2:188274544-188274594	AG10803	skin:	n/a
8	chr2:188269443-188269493	HCT-116	colon:	n/a
9	chr2:188274544-188274594	NT2-D1	testis:	n/a
10	chr2:188269443-188269493	NH-A	brain:	n/a
11	chr2:188274544-188274594	SAEC	small airway:	n/a
12	chr2:188274544-188274594	Hepatocyte	liver:	n/a
13	chr2:188269443-188269493	HRCEpiC	kidney:	n/a
14	chr2:188312833-188312883	Hela-S3	cervix:	n/a
15	chr2:188274544-188274594	AG09319	gingival:	n/a
16	chr2:188269443-188269493	NB4	blood:	n/a
17	chr2:188269443-188269493	Hela-S3	cervix:	n/a
18	chr2:188274544-188274594	SKMC	muscle:	n/a
19	chr2:188274544-188274594	ovcar-3	ovarian:	n/a
20	chr2:188269443-188269493	MCF-7	breast:	n/a
21	chr2:188312833-188312883	HUVEC	blood vessel:	n/a
22	chr2:188269443-188269493	HNPCEpiC	eye:	n/a
23	chr2:188312833-188312883	RPTEC	kidney:	n/a
24	chr2:188274544-188274594	PFSK-1	brain:	n/a
25	chr2:188269443-188269493	ovcar-3	ovarian:	n/a
26	chr2:188269443-188269493	GM12891	blood:	n/a
27	chr2:188269443-188269493	ProgFib	skin:	n/a
28	chr2:188312833-188312883	H1-hESC	embryonic stem cell:	embryo
29	chr2:188274544-188274594	HNPCEpiC	eye:	n/a
30	chr2:188269443-188269493	SK-N-SH_RA	brain:	n/a
31	chr2:188274544-188274594	HMEC	breast:	n/a
32	chr2:188274544-188274594	GM06990	blood:	n/a
33	chr2:188312833-188312883	AoSMC	blood vessel:	n/a
34	chr2:188274544-188274594	HRCEpiC	kidney:	n/a
35	chr2:188312833-188312883	NH-A	brain:	n/a
36	chr2:188269443-188269493	HRE	kidney:	n/a
37	chr2:188312833-188312883	U87	brain:	n/a
38	chr2:188312833-188312883	GM06990	blood:	n/a
39	chr2:188312833-188312883	HRPEpiC	eye:	n/a
40	chr2:188274544-188274594	A549	lung:	n/a
41	chr2:188274544-188274594	U87	brain:	n/a
42	chr2:188269443-188269493	IMR90	lung:	fetal
43	chr2:188312833-188312883	HRE	kidney:	n/a
44	chr2:188312833-188312883	Caco-2	colon:	n/a
45	chr2:188269443-188269493	GM12878	blood:	n/a
46	chr2:188274544-188274594	HUVEC	blood vessel:	n/a
47	chr2:188269443-188269493	HEEpiC	esophagus:	n/a
48	chr2:188312833-188312883	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:188269443-188269493	Caco-2	colon:	n/a
50	chr2:188312833-188312883	SK-N-SH	brain:	n/a

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:188368955..188371760-chr2:188416561..188418698,2	K562	blood:
2	chr2:188321031..188323033-chr2:188323409..188324944,2	MCF-7	breast:
3	chr2:188256239..188259274-chr2:188268273..188271204,3	K562	blood:
4	chr2:188349831..188352709-chr2:188404428..188405999,2	K562	blood:
5	chr2:188367651..188372772-chr2:188414874..188419301,6	K562	blood:
6	chr2:188254302..188256367-chr2:188293903..188296593,2	MCF-7	breast:
7	chr2:188256239..188259274-chr2:188268273..188271204,3	K562	blood:
8	chr2:188316887..188320656-chr2:188322905..188325832,3	K562	blood:
9	chr2:188330316..188331975-chr2:188335329..188337023,2	K562	blood:
10	chr2:188349779..188351933-chr2:188354447..188356243,2	K562	blood:
11	chr2:188163672..188164442-chr2:188307237..188307741,2	MCF-7	breast:
12	chr2:188325986..188328358-chr2:188338477..188341086,2	K562	blood:
13	chr2:188364448..188365318-chr2:188707678..188708407,3	K562	blood:
14	chr2:188360084..188362651-chr2:188363299..188364925,2	K562	blood:
15	chr2:188367231..188371096-chr2:188401019..188405423,6	K562	blood:
16	chr2:188365827..188368256-chr2:188403673..188406049,2	MCF-7	breast:
17	chr2:188254302..188256367-chr2:188293903..188296593,2	MCF-7	breast:
18	chr2:188276001..188278638-chr2:188296407..188297953,2	K562	blood:
19	chr2:188353320..188355812-chr2:188357936..188360335,2	K562	blood:
20	chr2:188288386..188290280-chr2:188297473..188299472,2	K562	blood:
21	chr2:188363929..188365341-chr2:188444758..188446502,16	K562	blood:
22	chr2:188362083..188363643-chr2:188369549..188371149,2	K562	blood:
23	chr2:188329317..188331418-chr2:188341720..188346261,4	K562	blood:
24	chr2:188363950..188366399-chr2:188445083..188446553,13	MCF-7	breast:
25	chr2:188366746..188369254-chr2:188412378..188414717,2	K562	blood:
26	chr2:188265281..188268088-chr2:188269599..188271306,2	K562	blood:
27	chr2:188357631..188360109-chr2:188416571..188419055,2	K562	blood:
28	chr2:188338540..188341601-chr2:188345636..188349487,3	K562	blood:
29	chr2:188364934..188367555-chr2:188418302..188420499,2	K562	blood:
30	chr2:188276001..188278638-chr2:188296407..188297953,2	K562	blood:
31	chr2:188351020..188353616-chr2:188354924..188357575,2	K562	blood:
32	chr2:188332292..188334574-chr2:188338658..188340896,2	K562	blood:
33	chr2:188316887..188320656-chr2:188322905..188325832,3	K562	blood:
34	chr2:188302851..188305687-chr2:188602438..188604231,2	K562	blood:
35	chr2:188364663..188366800-chr2:188416557..188418283,2	K562	blood:
36	chr2:188364379..188365187-chr2:188708060..188708991,2	MCF-7	breast:
37	chr2:188265281..188268088-chr2:188269599..188271306,2	K562	blood:
38	chr2:188163616..188164504-chr2:188317553..188318396,2	MCF-7	breast:
39	chr2:188325986..188328358-chr2:188338477..188341086,2	K562	blood:
40	chr2:188343524..188345048-chr2:188346989..188348629,2	K562	blood:
41	chr2:188363780..188367877-chr2:188441342..188445875,5	MCF-7	breast:
42	chr2:188327729..188329305-chr2:188335653..188337277,2	K562	blood:
43	chr2:188351020..188353616-chr2:188354924..188357575,2	K562	blood:
44	chr2:188366744..188369184-chr2:188446137..188447850,2	K562	blood:
45	chr2:188307594..188309818-chr2:188311954..188314639,2	K562	blood:
46	chr2:187727496..187728175-chr2:188317935..188318450,2	K562	blood:
47	chr2:188363922..188366266-chr2:188444694..188447033,35	MCF-7	breast:
48	chr2:188350155..188352503-chr2:188415198..188418799,3	K562	blood:
49	chr2:188351514..188353053-chr2:188353863..188355365,2	MCF-7	breast:
50	chr2:188332292..188334574-chr2:188338658..188340896,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TFPI-1	chr2:188312766-188312979	NONHSAT076015
2	lnc-TFPI-1	chr2:188296024-188296091	NONHSAT076019
3	lnc-TFPI-1	chr2:188306650-188306786	NONHSAT076017
4	lnc-TFPI-1	chr2:188296024-188296091	NONHSAT076015
5	lnc-TFPI-1	chr2:188312766-188312979	NONHSAT076017
6	lnc-TFPI-1	chr2:188293064-188293616	NONHSAT076019
7	lnc-TFPI-1	chr2:188312766-188312980	NONHSAT076016
8	lnc-TFPI-1	chr2:188312766-188312873	NONHSAT076019
9	lnc-CALCRL-1	chr2:188328960-188330769	NONHSAT076021
10	lnc-TFPI-1	chr2:188301325-188301383	NONHSAT076015
11	lnc-TFPI-1	chr2:188301325-188301383	NONHSAT076017
12	lnc-TFPI-1	chr2:188296024-188296091	NONHSAT076017

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	TFPI	hsa-miR-7-5p	chr2:188329144-188329165
2	TFPI	hsa-miR-7-5p	chr2:188331146-188331172
3	TFPI	hsa-miR-7-5p	chr2:188331101-188331124
4	TFPI	hsa-miR-155-5p	chr2:188329078-188329101

Variant related genes	Relation type
CALCRL	TF binding region
GAPDHP59	TF binding region
TFPI	TF binding region
CALCRL	CpG island
GAPDHP59	CpG island
TFPI	CpG island
ENSG00000224063	chromatin interactions
ENSG00000003436	chromatin interactions
ENSG00000064989	chromatin interactions

Extended variants
information (count: 3769 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:3769 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3821183	chr2:188256158-188256159	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561825438	chr2:188256167-188256168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532999148	chr2:188256237-188256238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368720882	chr2:188256249-188256250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551588305	chr2:188256379-188256380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373368682	chr2:188256402-188256403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527425269	chr2:188256413-188256414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548657125	chr2:188256425-188256426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566929534	chr2:188256504-188256505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537399657	chr2:188256577-188256578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190735899	chr2:188256632-188256633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571574299	chr2:188256666-188256667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6729250	chr2:188256685-188256686	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6715996	chr2:188256763-188256764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572540003	chr2:188256766-188256767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536761932	chr2:188256784-188256785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549709850	chr2:188256789-188256790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555054621	chr2:188256883-188256884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183949232	chr2:188256910-188256911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144822576	chr2:188256985-188256986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536219012	chr2:188257048-188257049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189165946	chr2:188257075-188257076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376657471	chr2:188257085-188257086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192872417	chr2:188257102-188257103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116013074	chr2:188257114-188257115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560334810	chr2:188257137-188257138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138680572	chr2:188257151-188257152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548669231	chr2:188257154-188257155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185444796	chr2:188257182-188257183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531221853	chr2:188257201-188257202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187140526	chr2:188257240-188257241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140569212	chr2:188257287-188257288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376300582	chr2:188257322-188257323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539361239	chr2:188257417-188257418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375540709	chr2:188257446-188257447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34914987	chr2:188257450-188257451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150435780	chr2:188257521-188257522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547208303	chr2:188257569-188257570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536814501	chr2:188257649-188257650	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565525131	chr2:188257684-188257685	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555118358	chr2:188257691-188257692	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576648055	chr2:188257740-188257741	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs80301128	chr2:188257745-188257746	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115184850	chr2:188257827-188257828	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138124447	chr2:188257870-188257871	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149571985	chr2:188257904-188257905	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144377630	chr2:188257948-188257949	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1398061	chr2:188257985-188257986	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs191785397	chr2:188257996-188257997	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557285282	chr2:188258023-188258024	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1276 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188214600-188257800	Weak transcription	Ovary	ovary
2	chr2:188223800-188257800	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:188240400-188257800	Weak transcription	Lung	lung
4	chr2:188245000-188257200	Weak transcription	Fetal Kidney	kidney
5	chr2:188250800-188257400	Weak transcription	Left Ventricle	heart
6	chr2:188252200-188258600	Weak transcription	Adipose Nuclei	Adipose
7	chr2:188252200-188258800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:188252200-188260000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:188255200-188256400	Enhancers	A549	lung
10	chr2:188255400-188256200	Enhancers	HSMM	muscle
11	chr2:188255400-188256200	Enhancers	NHDF-Ad	bronchial
12	chr2:188255400-188256200	Enhancers	Osteobl	bone
13	chr2:188255400-188256400	Enhancers	NH-A	brain
14	chr2:188255400-188257600	Enhancers	HUVEC	blood vessel
15	chr2:188255600-188256200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:188255600-188256200	Enhancers	HSMMtube	muscle
17	chr2:188255600-188256200	Enhancers	NHEK	skin
18	chr2:188255600-188256400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:188255800-188256200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:188255800-188256200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:188255800-188256400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:188255800-188258800	Weak transcription	Aorta	Aorta
23	chr2:188256000-188257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:188256200-188260200	Weak transcription	NHEK	skin
25	chr2:188256200-188268200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:188256200-188268200	Weak transcription	HSMM	muscle
27	chr2:188257200-188257400	Enhancers	Fetal Kidney	kidney
28	chr2:188257400-188258000	Enhancers	Left Ventricle	heart
29	chr2:188257600-188261400	Genic enhancers	HUVEC	blood vessel
30	chr2:188257800-188258000	Enhancers	Fetal Muscle Leg	muscle
31	chr2:188257800-188258000	Enhancers	Lung	lung
32	chr2:188257800-188258000	Enhancers	Ovary	ovary
33	chr2:188257800-188258200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:188257800-188258200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:188258600-188258800	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr2:188258800-188259000	ZNF genes & repeats	Aorta	Aorta
37	chr2:188258800-188259400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:188259000-188259400	Weak transcription	Aorta	Aorta
39	chr2:188259200-188259800	Weak transcription	Adipose Nuclei	Adipose
40	chr2:188259400-188261400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:188260000-188261200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr2:188260200-188260600	Enhancers	NHEK	skin
43	chr2:188261200-188263200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:188261400-188262600	Enhancers	HUVEC	blood vessel
45	chr2:188262400-188263400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:188262600-188263000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:188262600-188264400	Genic enhancers	HUVEC	blood vessel
48	chr2:188263000-188268600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:188263200-188263400	Enhancers	Adipose Nuclei	Adipose
50	chr2:188263200-188264000	Strong transcription	Primary hematopoietic stem cells	blood

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