Variant report

Variant	nsv834487
Chromosome Location	chr2:188182556-188353363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1375)
CpG islands
(count:306)
Chromatin interactive
region (count:57)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1375 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:188326415-188326867	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:188326188-188326206	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:188296673-188297038	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:188317827-188318187	K562	blood:	n/a	n/a
5	ATF2	chr2:188340176-188341023	GM12878	blood:	n/a	n/a
6	ATF2	chr2:188312809-188313314	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:188268698-188269088	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr2:188190158-188190174	K562	blood:	n/a	n/a
9	BACH1	chr2:188208775-188208862	K562	blood:	n/a	n/a
10	BATF	chr2:188340236-188340498	GM12878	blood:	n/a	chr2:188340405-188340416
11	BATF	chr2:188340622-188340923	GM12878	blood:	n/a	n/a
12	BATF	chr2:188327674-188327939	GM12878	blood:	n/a	chr2:188327699-188327707
13	BATF	chr2:188340301-188340499	GM12878	blood:	n/a	chr2:188340405-188340416
14	BCL11A	chr2:188340195-188340620	GM12878	blood:	n/a	n/a
15	BCL11A	chr2:188340691-188340960	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:188340655-188340968	GM12878	blood:	n/a	n/a
17	BCL11A	chr2:188347521-188347836	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:188340271-188340482	GM12878	blood:	n/a	n/a
19	BCLAF1	chr2:188312732-188313340	GM12878	blood:	n/a	n/a
20	BCLAF1	chr2:188312648-188313438	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:188268255-188268781	GM12878	blood:	n/a	n/a
22	BHLHE40	chr2:188312812-188313323	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:188268422-188268441	K562	blood:	n/a	n/a
24	BRCA1	chr2:188326379-188326862	HepG2	liver:	n/a	n/a
25	BRCA1	chr2:188313072-188313272	GM12878	blood:	n/a	n/a
26	CBX3	chr2:188193434-188193635	K562	blood:	n/a	n/a
27	CBX3	chr2:188312808-188313187	HCT-116	colon:	n/a	n/a
28	CBX3	chr2:188312818-188313395	HCT-116	colon:	n/a	n/a
29	CBX3	chr2:188312772-188313268	K562	blood:	n/a	n/a
30	CCNT2	chr2:188235207-188235395	K562	blood:	n/a	n/a
31	CEBPB	chr2:188299087-188299465	ECC-1	luminal epithelium:	n/a	chr2:188299234-188299245
32	CEBPB	chr2:188325575-188325925	IMR90	lung:	n/a	chr2:188325911-188325919
33	CEBPB	chr2:188312799-188313229	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr2:188325686-188325849	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr2:188314715-188314989	A549	lung:	n/a	chr2:188314843-188314854 chr2:188314745-188314757
36	CEBPB	chr2:188287085-188287441	HepG2	liver:	n/a	chr2:188287267-188287278
37	CEBPB	chr2:188312895-188313248	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr2:188312856-188313215	K562	blood:	n/a	n/a
39	CEBPB	chr2:188325687-188325804	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr2:188307541-188307882	K562	blood:	n/a	chr2:188307585-188307596 chr2:188307583-188307596 chr2:188307703-188307712 chr2:188307701-188307712 chr2:188307702-188307713
41	CEBPB	chr2:188246985-188247189	IMR90	lung:	n/a	chr2:188247056-188247067
42	CEBPB	chr2:188307531-188307888	IMR90	lung:	n/a	chr2:188307585-188307596 chr2:188307583-188307596 chr2:188307703-188307712 chr2:188307701-188307712 chr2:188307702-188307713
43	CEBPB	chr2:188265642-188265965	A549	lung:	n/a	chr2:188265786-188265797
44	CEBPB	chr2:188312901-188313183	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:188287097-188287392	IMR90	lung:	n/a	chr2:188287267-188287278
46	CEBPB	chr2:188255593-188255952	A549	lung:	n/a	n/a
47	CEBPB	chr2:188287098-188287432	A549	lung:	n/a	chr2:188287267-188287278
48	CEBPB	chr2:188255557-188255969	IMR90	lung:	n/a	n/a
49	CEBPB	chr2:188321192-188321424	K562	blood:	n/a	n/a
50	CEBPB	chr2:188312878-188313270	H1-hESC	embryonic stem cell:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:188312833-188312883	HAEpiC	amniotic membrane:	n/a
2	chr2:188312833-188312883	HAEpiC	amniotic membrane:	n/a
3	chr2:188274544-188274594	AG09319	gingival:	n/a
4	chr2:188211981-188212031	AG09319	gingival:	n/a
5	chr2:188210673-188210723	MCF-7	breast:	n/a
6	chr2:188312833-188312883	CMK	blood:	n/a
7	chr2:188312833-188312883	RPTEC	kidney:	n/a
8	chr2:188211981-188212031	MCF-7	breast:	n/a
9	chr2:188269443-188269493	T-47D	breast:	n/a
10	chr2:188210673-188210723	LNCaP	prostate:	n/a
11	chr2:188211981-188212031	PrEC	prostate:	n/a
12	chr2:188210673-188210723	HEEpiC	esophagus:	n/a
13	chr2:188211981-188212031	LNCaP	prostate:	n/a
14	chr2:188269443-188269493	HPAEpiC	pulmonary alveolar:	n/a
15	chr2:188312833-188312883	PFSK-1	brain:	n/a
16	chr2:188312833-188312883	GM12891	blood:	n/a
17	chr2:188211981-188212031	AG10803	skin:	n/a
18	chr2:188269443-188269493	HRPEpiC	eye:	n/a
19	chr2:188274544-188274594	T-47D	breast:	n/a
20	chr2:188312833-188312883	HUVEC	blood vessel:	n/a
21	chr2:188269443-188269493	NH-A	brain:	n/a
22	chr2:188312833-188312883	GM12878	blood:	n/a
23	chr2:188274544-188274594	AG04450	lung:	fetal
24	chr2:188211981-188212031	HIPEpiC	eye:	n/a
25	chr2:188211981-188212031	Jurkat	blood:	n/a
26	chr2:188269443-188269493	RPTEC	kidney:	n/a
27	chr2:188312833-188312883	ovcar-3	ovarian:	n/a
28	chr2:188274544-188274594	SK-N-MC	brain:	n/a
29	chr2:188312833-188312883	GM06990	blood:	n/a
30	chr2:188312833-188312883	SK-N-MC	brain:	n/a
31	chr2:188269443-188269493	MCF10A-Er-Src	breast:	n/a
32	chr2:188312833-188312883	PANC-1	pancreas:	n/a
33	chr2:188312833-188312883	SK-N-SH	brain:	n/a
34	chr2:188211981-188212031	AoSMC	blood vessel:	n/a
35	chr2:188274544-188274594	HUVEC	blood vessel:	n/a
36	chr2:188312833-188312883	HL-60	blood:	n/a
37	chr2:188269443-188269493	HCT-116	colon:	n/a
38	chr2:188269443-188269493	PrEC	prostate:	n/a
39	chr2:188274544-188274594	HRPEpiC	eye:	n/a
40	chr2:188269443-188269493	HCPEpiC	choroid plexus:	n/a
41	chr2:188269443-188269493	SAEC	small airway:	n/a
42	chr2:188211981-188212031	AG04449	skin:	fetal
43	chr2:188269443-188269493	NHDF-neo	bronchial:	n/a
44	chr2:188210673-188210723	CMK	blood:	n/a
45	chr2:188210673-188210723	BJ	skin:	n/a
46	chr2:188211981-188212031	IMR90	lung:	fetal
47	chr2:188210673-188210723	GM12878	blood:	n/a
48	chr2:188211981-188212031	A549	lung:	n/a
49	chr2:188210673-188210723	AG09309	skin:	n/a
50	chr2:188210673-188210723	NH-A	brain:	n/a

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:188353320..188355812-chr2:188357936..188360335,2	K562	blood:
2	chr2:188325986..188328358-chr2:188338477..188341086,2	K562	blood:
3	chr2:188247827..188249573-chr2:188255118..188257406,2	K562	blood:
4	chr2:188330316..188331975-chr2:188335329..188337023,2	K562	blood:
5	chr2:188265281..188268088-chr2:188269599..188271306,2	K562	blood:
6	chr2:188327729..188329305-chr2:188335653..188337277,2	K562	blood:
7	chr2:188247022..188249051-chr2:188251094..188252795,2	K562	blood:
8	chr2:188321031..188323033-chr2:188323409..188324944,2	MCF-7	breast:
9	chr2:188329317..188331418-chr2:188341720..188346261,4	K562	blood:
10	chr2:188163672..188164442-chr2:188307237..188307741,2	MCF-7	breast:
11	chr2:188316887..188320656-chr2:188322905..188325832,3	K562	blood:
12	chr2:188347165..188348805-chr2:188354162..188356407,2	K562	blood:
13	chr2:188247827..188249573-chr2:188255118..188257406,2	K562	blood:
14	chr2:188327729..188329305-chr2:188335653..188337277,2	K562	blood:
15	chr2:188349779..188351933-chr2:188354447..188356243,2	K562	blood:
16	chr2:188316887..188320656-chr2:188322905..188325832,3	K562	blood:
17	chr2:188288386..188290280-chr2:188297473..188299472,2	K562	blood:
18	chr2:188256239..188259274-chr2:188268273..188271204,3	K562	blood:
19	chr2:188276001..188278638-chr2:188296407..188297953,2	K562	blood:
20	chr2:188330316..188331975-chr2:188335329..188337023,2	K562	blood:
21	chr2:188202421..188204619-chr2:188206871..188209816,3	K562	blood:
22	chr2:188247022..188249051-chr2:188251094..188252795,2	K562	blood:
23	chr2:188343524..188345048-chr2:188346989..188348629,2	K562	blood:
24	chr2:188286431..188288694-chr2:188289682..188292197,2	K562	blood:
25	chr2:188254302..188256367-chr2:188293903..188296593,2	MCF-7	breast:
26	chr2:188254302..188256367-chr2:188293903..188296593,2	MCF-7	breast:
27	chr2:188302851..188305687-chr2:188602438..188604231,2	K562	blood:
28	chr2:188332292..188334574-chr2:188338658..188340896,2	K562	blood:
29	chr2:188256239..188259274-chr2:188268273..188271204,3	K562	blood:
30	chr2:188313751..188315339-chr2:188318942..188321717,2	K562	blood:
31	chr2:188329317..188331418-chr2:188341720..188346261,4	K562	blood:
32	chr2:188340883..188342702-chr2:188345303..188347630,2	K562	blood:
33	chr2:188265281..188268088-chr2:188269599..188271306,2	K562	blood:
34	chr2:188332292..188334574-chr2:188338658..188340896,2	K562	blood:
35	chr2:188351020..188353616-chr2:188354924..188357575,2	K562	blood:
36	chr2:188338540..188341601-chr2:188345636..188349487,3	K562	blood:
37	chr2:188351514..188353053-chr2:188353863..188355365,2	MCF-7	breast:
38	chr2:188246636..188248522-chr2:188250885..188252795,2	K562	blood:
39	chr2:187727496..187728175-chr2:188317935..188318450,2	K562	blood:
40	chr2:188350155..188352503-chr2:188415198..188418799,3	K562	blood:
41	chr2:188241492..188244171-chr5:66176765..66178294,2	MCF-7	breast:
42	chr2:188340694..188341382-chr6:117319233..117320186,2	MCF-7	breast:
43	chr2:188202421..188204619-chr2:188206871..188209816,3	K562	blood:
44	chr2:188307594..188309818-chr2:188311954..188314639,2	K562	blood:
45	chr2:188321031..188323033-chr2:188323409..188324944,2	MCF-7	breast:
46	chr2:188349831..188352709-chr2:188404428..188405999,2	K562	blood:
47	chr2:188288386..188290280-chr2:188297473..188299472,2	K562	blood:
48	chr2:188179679..188182159-chr2:188184415..188186221,2	K562	blood:
49	chr2:188325986..188328358-chr2:188338477..188341086,2	K562	blood:
50	chr2:188343524..188345048-chr2:188346989..188348629,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TFPI-1	chr2:188296024-188296091	NONHSAT076019
2	lnc-TFPI-1	chr2:188306650-188306786	NONHSAT076017
3	lnc-TFPI-1	chr2:188301325-188301383	NONHSAT076017
4	lnc-CALCRL-1	chr2:188328960-188330769	NONHSAT076021
5	lnc-TFPI-1	chr2:188312766-188312873	NONHSAT076019
6	lnc-TFPI-1	chr2:188301325-188301383	NONHSAT076015
7	lnc-TFPI-1	chr2:188296024-188296091	NONHSAT076015
8	lnc-TFPI-1	chr2:188312766-188312979	NONHSAT076017
9	lnc-TFPI-1	chr2:188312766-188312980	NONHSAT076016
10	lnc-TFPI-1	chr2:188252126-188252483	NONHSAT076016
11	lnc-TFPI-1	chr2:188252393-188252483	NONHSAT076015
12	lnc-TFPI-1	chr2:188252065-188252220	NONHSAT076015
13	lnc-FAM171B-3	chr2:188194854-188195100	NONHSAT076014
14	lnc-TFPI-1	chr2:188296024-188296091	NONHSAT076017
15	lnc-TFPI-1	chr2:188293064-188293616	NONHSAT076019
16	lnc-TFPI-1	chr2:188312766-188312979	NONHSAT076015
17	lnc-TFPI-1	chr2:188252393-188252483	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-155-5p	chr2:188329078-188329101
3	TFPI	hsa-miR-7-5p	chr2:188331146-188331172
4	TFPI	hsa-miR-7-5p	chr2:188331101-188331124

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

Extended variants
information (count: 5449 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:5449 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375038267	chr2:188182573-188182574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538509464	chr2:188182575-188182576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13409829	chr2:188182661-188182662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs532020523	chr2:188182672-188182673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191169188	chr2:188182686-188182687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183002588	chr2:188182756-188182757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376036564	chr2:188182763-188182764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369373534	chr2:188182787-188182788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs870882	chr2:188182799-188182800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs77612829	chr2:188182833-188182834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375074355	chr2:188182834-188182835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547460360	chr2:188182835-188182836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143582755	chr2:188182869-188182870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187669588	chr2:188182878-188182879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548170154	chr2:188182921-188182922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146291028	chr2:188182934-188182935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538122485	chr2:188182998-188182999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139523018	chr2:188183026-188183027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs885435	chr2:188183180-188183181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571386817	chr2:188183188-188183189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538376261	chr2:188183229-188183230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs870509	chr2:188183252-188183253	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144476940	chr2:188183281-188183282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575586539	chr2:188183308-188183309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551896608	chr2:188183315-188183316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554600022	chr2:188183358-188183359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6758947	chr2:188183373-188183374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544076381	chr2:188183390-188183391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192818682	chr2:188183391-188183392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116431878	chr2:188183400-188183401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111701772	chr2:188183416-188183417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187763363	chr2:188183419-188183420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530131513	chr2:188183421-188183422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78960217	chr2:188183484-188183485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563685530	chr2:188183494-188183495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531524266	chr2:188183499-188183500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550021297	chr2:188183527-188183528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544545810	chr2:188183552-188183553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571356337	chr2:188183598-188183599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192234729	chr2:188183615-188183616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547603011	chr2:188183635-188183636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112301881	chr2:188183637-188183638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7595830	chr2:188183761-188183762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs840588	chr2:188183781-188183782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs536329596	chr2:188183784-188183785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs840587	chr2:188183805-188183806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs12997536	chr2:188183815-188183816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575956512	chr2:188183864-188183865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368679844	chr2:188183880-188183881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148493699	chr2:188183895-188183896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1257 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188180800-188184000	Enhancers	HUVEC	blood vessel
2	chr2:188181600-188184600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:188183000-188183800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:188183400-188183800	Enhancers	HMEC	breast
5	chr2:188183400-188184800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:188183400-188184800	Enhancers	HSMM	muscle
7	chr2:188183400-188185000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:188183400-188185000	Enhancers	NHEK	skin
9	chr2:188183800-188184200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:188183800-188184200	Weak transcription	HMEC	breast
11	chr2:188184000-188184200	Flanking Active TSS	HUVEC	blood vessel
12	chr2:188184200-188184400	Enhancers	HUVEC	blood vessel
13	chr2:188184200-188184800	Enhancers	HMEC	breast
14	chr2:188184200-188185600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:188184200-188185600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:188184400-188184600	Flanking Active TSS	HUVEC	blood vessel
17	chr2:188184400-188184800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:188184400-188184800	Enhancers	NH-A	brain
19	chr2:188184400-188185000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:188184400-188185200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:188184600-188184800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:188184600-188184800	Enhancers	HUVEC	blood vessel
23	chr2:188184800-188185000	Flanking Active TSS	HUVEC	blood vessel
24	chr2:188185000-188186200	Enhancers	HUVEC	blood vessel
25	chr2:188185200-188186600	Enhancers	Ovary	ovary
26	chr2:188185400-188186200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:188193400-188193800	ZNF genes & repeats	Aorta	Aorta
28	chr2:188193800-188200200	Weak transcription	Aorta	Aorta
29	chr2:188203200-188203800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:188203200-188203800	Enhancers	Ovary	ovary
31	chr2:188203200-188218200	Weak transcription	Aorta	Aorta
32	chr2:188203400-188203600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:188203400-188203600	Enhancers	Spleen	Spleen
34	chr2:188203400-188203800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:188203400-188203800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:188203400-188203800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr2:188203400-188203800	Enhancers	Placenta	Placenta
38	chr2:188203400-188203800	Enhancers	Gastric	stomach
39	chr2:188203400-188203800	Enhancers	Left Ventricle	heart
40	chr2:188203400-188203800	Enhancers	Lung	lung
41	chr2:188203600-188203800	Enhancers	Fetal Muscle Leg	muscle
42	chr2:188203800-188210200	Weak transcription	Ovary	ovary
43	chr2:188203800-188210400	Weak transcription	Left Ventricle	heart
44	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:188204200-188204400	Enhancers	Fetal Lung	lung
47	chr2:188204600-188206800	Weak transcription	HUVEC	blood vessel
48	chr2:188204600-188213400	Weak transcription	Fetal Lung	lung
49	chr2:188206800-188213800	Strong transcription	HUVEC	blood vessel
50	chr2:188207400-188209000	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links