Variant report

Variant	nsv875562
Chromosome Location	chr2:188258904-188370232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1782)
CpG islands
(count:183)
Chromatin interactive
region (count:75)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1782 , 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	chr2:188365601-188366189	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:188362488-188362990	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:188296673-188297038	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:188362596-188363368	K562	blood:	n/a	n/a
5	ARID3A	chr2:188317827-188318187	K562	blood:	n/a	n/a
6	ARID3A	chr2:188326415-188326867	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:188326188-188326206	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:188364484-188365250	K562	blood:	n/a	chr2:188365216-188365232
9	ARID3A	chr2:188364564-188365077	HepG2	liver:	n/a	n/a
10	ATF2	chr2:188364673-188364992	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr2:188312809-188313314	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr2:188340176-188341023	GM12878	blood:	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	chr2:188340622-188340923	GM12878	blood:	n/a	n/a
17	BATF	chr2:188340301-188340499	GM12878	blood:	n/a	chr2:188340405-188340416
18	BATF	chr2:188340236-188340498	GM12878	blood:	n/a	chr2:188340405-188340416
19	BATF	chr2:188327674-188327939	GM12878	blood:	n/a	chr2:188327699-188327707
20	BCL11A	chr2:188340195-188340620	GM12878	blood:	n/a	n/a
21	BCL11A	chr2:188340691-188340960	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:188347521-188347836	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:188340655-188340968	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:188340271-188340482	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	chr2:188312732-188313340	GM12878	blood:	n/a	n/a
28	BCLAF1	chr2:188312648-188313438	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:188365537-188365857	K562	blood:	n/a	n/a
30	BHLHE40	chr2:188268422-188268441	K562	blood:	n/a	n/a
31	BHLHE40	chr2:188312812-188313323	GM12878	blood:	n/a	n/a
32	BHLHE40	chr2:188268255-188268781	GM12878	blood:	n/a	n/a
33	BRCA1	chr2:188313072-188313272	GM12878	blood:	n/a	n/a
34	BRCA1	chr2:188365675-188366568	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr2:188326379-188326862	HepG2	liver:	n/a	n/a
36	CBX3	chr2:188312772-188313268	K562	blood:	n/a	n/a
37	CBX3	chr2:188312808-188313187	HCT-116	colon:	n/a	n/a
38	CBX3	chr2:188357927-188358279	K562	blood:	n/a	n/a
39	CBX3	chr2:188312818-188313395	HCT-116	colon:	n/a	n/a
40	CCNT2	chr2:188369081-188369284	K562	blood:	n/a	n/a
41	CEBPB	chr2:188365658-188366183	A549	lung:	n/a	n/a
42	CEBPB	chr2:188364709-188365084	K562	blood:	n/a	n/a
43	CEBPB	chr2:188321192-188321424	K562	blood:	n/a	n/a
44	CEBPB	chr2:188314715-188314989	A549	lung:	n/a	chr2:188314843-188314854 chr2:188314745-188314757
45	CEBPB	chr2:188299087-188299465	ECC-1	luminal epithelium:	n/a	chr2:188299234-188299245
46	CEBPB	chr2:188312878-188313270	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr2:188307539-188307878	A549	lung:	n/a	chr2:188307585-188307596 chr2:188307583-188307596 chr2:188307703-188307712 chr2:188307701-188307712 chr2:188307702-188307713
48	CEBPB	chr2:188312869-188313236	IMR90	lung:	n/a	n/a
49	CEBPB	chr2:188312895-188313248	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr2:188365572-188366289	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:188274544-188274594	HCPEpiC	choroid plexus:	n/a
2	chr2:188274544-188274594	BE2_C	brain:	n/a
3	chr2:188312833-188312883	A549	lung:	n/a
4	chr2:188269443-188269493	AG09319	gingival:	n/a
5	chr2:188274544-188274594	PFSK-1	brain:	n/a
6	chr2:188312833-188312883	GM12878	blood:	n/a
7	chr2:188269443-188269493	HRE	kidney:	n/a
8	chr2:188312833-188312883	HRCEpiC	kidney:	n/a
9	chr2:188274544-188274594	GM12892	blood:	n/a
10	chr2:188269443-188269493	AG04450	lung:	fetal
11	chr2:188269443-188269493	NB4	blood:	n/a
12	chr2:188269443-188269493	SK-N-SH	brain:	n/a
13	chr2:188274544-188274594	HIPEpiC	eye:	n/a
14	chr2:188274544-188274594	HRPEpiC	eye:	n/a
15	chr2:188269443-188269493	A549	lung:	n/a
16	chr2:188274544-188274594	AG10803	skin:	n/a
17	chr2:188269443-188269493	NT2-D1	testis:	n/a
18	chr2:188312833-188312883	AG04450	lung:	fetal
19	chr2:188312833-188312883	SK-N-SH	brain:	n/a
20	chr2:188274544-188274594	AoSMC	blood vessel:	n/a
21	chr2:188312833-188312883	U87	brain:	n/a
22	chr2:188274544-188274594	AG04449	skin:	fetal
23	chr2:188274544-188274594	Jurkat	blood:	n/a
24	chr2:188274544-188274594	Hepatocyte	liver:	n/a
25	chr2:188312833-188312883	Caco-2	colon:	n/a
26	chr2:188269443-188269493	AoSMC	blood vessel:	n/a
27	chr2:188269443-188269493	HAEpiC	amniotic membrane:	n/a
28	chr2:188312833-188312883	MCF10A-Er-Src	breast:	n/a
29	chr2:188274544-188274594	HMEC	breast:	n/a
30	chr2:188269443-188269493	GM12878	blood:	n/a
31	chr2:188274544-188274594	ovcar-3	ovarian:	n/a
32	chr2:188312833-188312883	MCF-7	breast:	n/a
33	chr2:188269443-188269493	Hela-S3	cervix:	n/a
34	chr2:188269443-188269493	HIPEpiC	eye:	n/a
35	chr2:188312833-188312883	Jurkat	blood:	n/a
36	chr2:188274544-188274594	MCF10A-Er-Src	breast:	n/a
37	chr2:188269443-188269493	Caco-2	colon:	n/a
38	chr2:188312833-188312883	BE2_C	brain:	n/a
39	chr2:188269443-188269493	RPTEC	kidney:	n/a
40	chr2:188269443-188269493	SK-N-MC	brain:	n/a
41	chr2:188274544-188274594	HEK293	kidney:	embryo
42	chr2:188312833-188312883	SAEC	small airway:	n/a
43	chr2:188269443-188269493	HL-60	blood:	n/a
44	chr2:188269443-188269493	IMR90	lung:	fetal
45	chr2:188274544-188274594	GM12878	blood:	n/a
46	chr2:188269443-188269493	SKMC	muscle:	n/a
47	chr2:188269443-188269493	GM12891	blood:	n/a
48	chr2:188269443-188269493	AG10803	skin:	n/a
49	chr2:188312833-188312883	HEEpiC	esophagus:	n/a
50	chr2:188312833-188312883	HCT-116	colon:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:188286431..188288694-chr2:188289682..188292197,2	K562	blood:
2	chr2:188363950..188366399-chr2:188445083..188446553,13	MCF-7	breast:
3	chr2:188357631..188360109-chr2:188416571..188419055,2	K562	blood:
4	chr2:188367231..188371096-chr2:188401019..188405423,6	K562	blood:
5	chr2:188364934..188367555-chr2:188418302..188420499,2	K562	blood:
6	chr2:188325986..188328358-chr2:188338477..188341086,2	K562	blood:
7	chr2:188349779..188351933-chr2:188354447..188356243,2	K562	blood:
8	chr2:187727496..187728175-chr2:188317935..188318450,2	K562	blood:
9	chr2:188364379..188365187-chr2:188708060..188708991,2	MCF-7	breast:
10	chr2:188327729..188329305-chr2:188335653..188337277,2	K562	blood:
11	chr2:188363929..188365341-chr2:188444758..188446502,16	K562	blood:
12	chr2:188364663..188366800-chr2:188416557..188418283,2	K562	blood:
13	chr2:188325986..188328358-chr2:188338477..188341086,2	K562	blood:
14	chr2:188265281..188268088-chr2:188269599..188271306,2	K562	blood:
15	chr2:188362083..188363643-chr2:188369549..188371149,2	K562	blood:
16	chr2:188368955..188371760-chr2:188416561..188418698,2	K562	blood:
17	chr2:188353320..188355812-chr2:188357936..188360335,2	K562	blood:
18	chr2:188313751..188315339-chr2:188318942..188321717,2	K562	blood:
19	chr2:188340883..188342702-chr2:188345303..188347630,2	K562	blood:
20	chr2:188366746..188369254-chr2:188412378..188414717,2	K562	blood:
21	chr2:188351514..188353053-chr2:188353863..188355365,2	MCF-7	breast:
22	chr2:188329317..188331418-chr2:188341720..188346261,4	K562	blood:
23	chr2:188363035..188364690-chr2:189379831..189382772,2	MCF-7	breast:
24	chr2:188321031..188323033-chr2:188323409..188324944,2	MCF-7	breast:
25	chr2:188302851..188305687-chr2:188602438..188604231,2	K562	blood:
26	chr2:188338540..188341601-chr2:188345636..188349487,3	K562	blood:
27	chr2:188365429..188366272-chr2:188444751..188446554,9	K562	blood:
28	chr2:188330316..188331975-chr2:188335329..188337023,2	K562	blood:
29	chr2:188327729..188329305-chr2:188335653..188337277,2	K562	blood:
30	chr2:188363780..188367877-chr2:188441342..188445875,5	MCF-7	breast:
31	chr2:188256239..188259274-chr2:188268273..188271204,3	K562	blood:
32	chr2:188265281..188268088-chr2:188269599..188271306,2	K562	blood:
33	chr2:188349779..188351933-chr2:188354447..188356243,2	K562	blood:
34	chr2:188349831..188352709-chr2:188404428..188405999,2	K562	blood:
35	chr2:188288386..188290280-chr2:188297473..188299472,2	K562	blood:
36	chr2:188351020..188353616-chr2:188354924..188357575,2	K562	blood:
37	chr2:188316887..188320656-chr2:188322905..188325832,3	K562	blood:
38	chr2:188363922..188366266-chr2:188444694..188447033,35	MCF-7	breast:
39	chr2:188276001..188278638-chr2:188296407..188297953,2	K562	blood:
40	chr2:188163616..188164504-chr2:188317553..188318396,2	MCF-7	breast:
41	chr2:188362083..188363643-chr2:188369549..188371149,2	K562	blood:
42	chr2:188329317..188331418-chr2:188341720..188346261,4	K562	blood:
43	chr2:188365827..188368256-chr2:188403673..188406049,2	MCF-7	breast:
44	chr2:188286431..188288694-chr2:188289682..188292197,2	K562	blood:
45	chr2:188340883..188342702-chr2:188345303..188347630,2	K562	blood:
46	chr2:188163672..188164442-chr2:188307237..188307741,2	MCF-7	breast:
47	chr2:188340694..188341382-chr6:117319233..117320186,2	MCF-7	breast:
48	chr2:188363934..188366778-chr2:188370276..188373007,2	K562	blood:
49	chr2:188366744..188369184-chr2:188446137..188447850,2	K562	blood:
50	chr2:188350155..188352503-chr2:188415198..188418799,3	K562	blood:

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

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

No data

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

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

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
ENSG00000064989	chromatin interactions
ENSG00000003436	chromatin interactions

Extended variants
information (count: 3708 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:3708 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1157699	chr2:188258904-188258905	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530852741	chr2:188258915-188258916	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540706172	chr2:188258975-188258976	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559280864	chr2:188259024-188259025	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377044745	chr2:188259033-188259034	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530466736	chr2:188259101-188259102	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530949260	chr2:188259108-188259109	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570270330	chr2:188259136-188259137	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552494130	chr2:188259206-188259207	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531077147	chr2:188259219-188259220	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544760991	chr2:188259224-188259225	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570821049	chr2:188259232-188259233	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535102080	chr2:188259235-188259236	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139835548	chr2:188259242-188259243	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7587307	chr2:188259261-188259262	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568110460	chr2:188259297-188259298	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536181059	chr2:188259346-188259347	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554396712	chr2:188259347-188259348	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575854006	chr2:188259379-188259380	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564165330	chr2:188259434-188259435	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545726286	chr2:188259509-188259510	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543219166	chr2:188259516-188259517	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558702427	chr2:188259538-188259539	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190784206	chr2:188259556-188259557	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147666890	chr2:188259596-188259597	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9288141	chr2:188259620-188259621	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559127704	chr2:188259686-188259687	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116285616	chr2:188259806-188259807	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564548679	chr2:188259869-188259870	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181700591	chr2:188259909-188259910	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563941763	chr2:188259965-188259966	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531142418	chr2:188260024-188260025	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143198181	chr2:188260042-188260043	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186058676	chr2:188260043-188260044	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112445357	chr2:188260112-188260113	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528625123	chr2:188260210-188260211	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147498185	chr2:188260223-188260224	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568118438	chr2:188260244-188260245	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566133757	chr2:188260257-188260258	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140086998	chr2:188260296-188260297	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548095740	chr2:188260351-188260352	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569650523	chr2:188260382-188260383	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537332748	chr2:188260393-188260394	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3771081	chr2:188260401-188260402	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs698575	chr2:188260405-188260406	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189927942	chr2:188260478-188260479	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547069652	chr2:188260505-188260506	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144277259	chr2:188260582-188260583	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553054734	chr2:188260586-188260587	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376012178	chr2:188260609-188260610	Weak transcription Strong transcription 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:1264 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188252200-188260000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:188256200-188260200	Weak transcription	NHEK	skin
3	chr2:188256200-188268200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:188256200-188268200	Weak transcription	HSMM	muscle
5	chr2:188257600-188261400	Genic enhancers	HUVEC	blood vessel
6	chr2:188258800-188259000	ZNF genes & repeats	Aorta	Aorta
7	chr2:188258800-188259400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:188259000-188259400	Weak transcription	Aorta	Aorta
9	chr2:188259200-188259800	Weak transcription	Adipose Nuclei	Adipose
10	chr2:188259400-188261400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:188260000-188261200	Strong transcription	Primary hematopoietic stem cells	blood
12	chr2:188260200-188260600	Enhancers	NHEK	skin
13	chr2:188261200-188263200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:188261400-188262600	Enhancers	HUVEC	blood vessel
15	chr2:188262400-188263400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:188262600-188263000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:188262600-188264400	Genic enhancers	HUVEC	blood vessel
18	chr2:188263000-188268600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:188263200-188263400	Enhancers	Adipose Nuclei	Adipose
20	chr2:188263200-188264000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr2:188263400-188267200	Weak transcription	Adipose Nuclei	Adipose
22	chr2:188264000-188264200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:188264200-188264800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:188264400-188265800	Strong transcription	HUVEC	blood vessel
25	chr2:188264800-188268400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:188265800-188266000	Enhancers	Fetal Kidney	kidney
27	chr2:188265800-188266600	Weak transcription	HUVEC	blood vessel
28	chr2:188266000-188267600	Weak transcription	Fetal Kidney	kidney
29	chr2:188266600-188268400	Genic enhancers	HUVEC	blood vessel
30	chr2:188267200-188268200	Enhancers	Ovary	ovary
31	chr2:188267200-188268600	Enhancers	Adipose Nuclei	Adipose
32	chr2:188267400-188267600	Enhancers	Brain Angular Gyrus	brain
33	chr2:188267400-188268600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:188267600-188268200	Weak transcription	Brain Angular Gyrus	brain
35	chr2:188267600-188268200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:188267600-188268200	Enhancers	Fetal Kidney	kidney
37	chr2:188268000-188268400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:188268000-188269800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:188268200-188268400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:188268200-188268400	Flanking Active TSS	Ovary	ovary
41	chr2:188268200-188268400	Enhancers	Psoas Muscle	Psoas
42	chr2:188268200-188268400	Enhancers	HSMMtube	muscle
43	chr2:188268200-188268600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:188268200-188268600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:188268200-188268600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:188268200-188268800	Enhancers	Brain Angular Gyrus	brain
47	chr2:188268200-188269000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:188268200-188269000	Flanking Active TSS	Fetal Kidney	kidney
49	chr2:188268200-188269000	Enhancers	HSMM	muscle
50	chr2:188268200-188271000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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