Variant report

Variant	nsv1044509
Chromosome Location	chr12:8130958-8182060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1425)
CpG islands
(count:860)
Chromatin interactive
region (count:52)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1425 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:8178767-8179486	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:8181742-8182078	K562	blood:	n/a	n/a
3	ARID3A	chr12:8163978-8163979	K562	blood:	n/a	n/a
4	ARID3A	chr12:8169533-8169537	K562	blood:	n/a	n/a
5	ARID3A	chr12:8178827-8179704	K562	blood:	n/a	n/a
6	ARID3A	chr12:8142348-8142755	K562	blood:	n/a	n/a
7	ARID3A	chr12:8134928-8135250	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:8162067-8162069	K562	blood:	n/a	n/a
9	ARID3A	chr12:8147921-8148092	K562	blood:	n/a	n/a
10	ATF1	chr12:8147918-8148133	K562	blood:	n/a	n/a
11	ATF1	chr12:8142370-8142910	K562	blood:	n/a	n/a
12	ATF1	chr12:8178876-8179898	K562	blood:	n/a	n/a
13	ATF1	chr12:8139419-8139590	K562	blood:	n/a	n/a
14	ATF2	chr12:8178720-8179473	GM12878	blood:	n/a	n/a
15	ATF2	chr12:8147748-8148247	GM12878	blood:	n/a	n/a
16	ATF2	chr12:8147757-8148206	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr12:8179066-8179422	K562	blood:	n/a	n/a
18	BACH1	chr12:8145851-8146252	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr12:8145910-8146238	K562	blood:	n/a	n/a
20	BACH1	chr12:8179482-8179901	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr12:8153480-8153740	GM12878	blood:	n/a	chr12:8153646-8153657
22	BATF	chr12:8147837-8148187	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:8147799-8148153	GM12878	blood:	n/a	chr12:8147937-8147946
24	BCL11A	chr12:8147807-8148162	GM12878	blood:	n/a	chr12:8147937-8147946
25	BCL3	chr12:8179119-8180039	A549	lung:	n/a	chr12:8179395-8179404
26	BCL3	chr12:8178724-8179857	A549	lung:	n/a	chr12:8179395-8179404
27	BHLHE40	chr12:8134939-8135236	HepG2	liver:	n/a	n/a
28	BHLHE40	chr12:8178808-8179869	HepG2	liver:	n/a	n/a
29	BHLHE40	chr12:8171471-8171635	K562	blood:	n/a	n/a
30	BHLHE40	chr12:8142427-8143034	K562	blood:	n/a	n/a
31	BHLHE40	chr12:8171613-8171614	GM12878	blood:	n/a	n/a
32	BHLHE40	chr12:8145994-8146175	K562	blood:	n/a	n/a
33	BHLHE40	chr12:8178804-8179984	K562	blood:	n/a	n/a
34	BHLHE40	chr12:8147818-8148183	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:8178924-8179832	A549	lung:	n/a	n/a
36	BHLHE40	chr12:8147944-8148073	K562	blood:	n/a	n/a
37	BHLHE40	chr12:8178681-8179994	GM12878	blood:	n/a	n/a
38	BRCA1	chr12:8179558-8179611	HepG2	liver:	n/a	n/a
39	BRCA1	chr12:8147922-8148119	GM12878	blood:	n/a	n/a
40	BRCA1	chr12:8178762-8179868	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr12:8178841-8179873	GM12878	blood:	n/a	n/a
42	CBX3	chr12:8178831-8179938	K562	blood:	n/a	n/a
43	CCNT2	chr12:8142382-8142874	K562	blood:	n/a	n/a
44	CCNT2	chr12:8179188-8179894	K562	blood:	n/a	chr12:8179532-8179541
45	CEBPB	chr12:8139385-8139598	K562	blood:	n/a	n/a
46	CEBPB	chr12:8138681-8138926	MCF-7	breast:	n/a	chr12:8138826-8138837
47	CEBPB	chr12:8139414-8139626	A549	lung:	n/a	n/a
48	CEBPB	chr12:8178981-8179370	K562	blood:	n/a	chr12:8179325-8179333 chr12:8179225-8179233
49	CEBPB	chr12:8138678-8138950	A549	lung:	n/a	chr12:8138826-8138837
50	CEBPB	chr12:8139286-8139762	Hela-S3	cervix:	n/a	n/a

(count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8172018-8172068	NT2-D1	testis:	n/a
2	chr12:8171463-8171513	HRE	kidney:	n/a
3	chr12:8179360-8179410	IMR90	lung:	fetal
4	chr12:8167594-8167644	HCT-116	colon:	n/a
5	chr12:8179057-8179107	GM19239	blood:	n/a
6	chr12:8171686-8171736	Jurkat	blood:	n/a
7	chr12:8172018-8172068	NT2-D1	testis:	n/a
8	chr12:8171463-8171513	HRE	kidney:	n/a
9	chr12:8179360-8179410	IMR90	lung:	fetal
10	chr12:8167594-8167644	HCT-116	colon:	n/a
11	chr12:8179057-8179107	GM19239	blood:	n/a
12	chr12:8171686-8171736	Jurkat	blood:	n/a
13	chr12:8146718-8146768	MCF10A-Er-Src	breast:	n/a
14	chr12:8179360-8179410	AG04450	lung:	fetal
15	chr12:8171686-8171736	HPAEpiC	pulmonary alveolar:	n/a
16	chr12:8179489-8179539	A549	lung:	n/a
17	chr12:8179046-8179096	HNPCEpiC	eye:	n/a
18	chr12:8167594-8167644	CMK	blood:	n/a
19	chr12:8179489-8179539	Jurkat	blood:	n/a
20	chr12:8146718-8146768	AG04449	skin:	fetal
21	chr12:8171686-8171736	Hela-S3	cervix:	n/a
22	chr12:8171633-8171683	HEK293	kidney:	embryo
23	chr12:8179360-8179410	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:8167594-8167644	PrEC	prostate:	n/a
25	chr12:8179360-8179410	U87	brain:	n/a
26	chr12:8179057-8179107	K562	blood:	n/a
27	chr12:8179046-8179096	HAEpiC	amniotic membrane:	n/a
28	chr12:8146718-8146768	HEK293	kidney:	embryo
29	chr12:8179360-8179410	H1-hESC	embryonic stem cell:	embryo
30	chr12:8171463-8171513	HepG2	liver:	n/a
31	chr12:8179046-8179096	ProgFib	skin:	n/a
32	chr12:8167594-8167644	HIPEpiC	eye:	n/a
33	chr12:8171633-8171683	AG10803	skin:	n/a
34	chr12:8179781-8179831	PFSK-1	brain:	n/a
35	chr12:8179016-8179066	MCF10A-Er-Src	breast:	n/a
36	chr12:8179360-8179410	NH-A	brain:	n/a
37	chr12:8171633-8171683	AG09309	skin:	n/a
38	chr12:8170797-8170847	ECC-1	luminal epithelium:	n/a
39	chr12:8179057-8179107	AG09319	gingival:	n/a
40	chr12:8179781-8179831	HRPEpiC	eye:	n/a
41	chr12:8179057-8179107	ProgFib	skin:	n/a
42	chr12:8179781-8179831	ovcar-3	ovarian:	n/a
43	chr12:8167594-8167644	NH-A	brain:	n/a
44	chr12:8179489-8179539	HRPEpiC	eye:	n/a
45	chr12:8179489-8179539	NHBE	bronchial:	n/a
46	chr12:8171633-8171683	HL-60	blood:	n/a
47	chr12:8179489-8179539	AG09319	gingival:	n/a
48	chr12:8179781-8179831	GM12891	blood:	n/a
49	chr12:8179046-8179096	AG09309	skin:	n/a
50	chr12:8171686-8171736	HEEpiC	esophagus:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:8087187..8090473-chr12:8145986..8149446,6	K562	blood:
2	chr12:8121881..8123482-chr12:8179287..8181428,2	MCF-7	breast:
3	chr12:8178837..8181131-chr12:8206683..8209804,4	K562	blood:
4	chr12:8088413..8089953-chr12:8179064..8181262,2	K562	blood:
5	chr12:8176284..8181862-chr12:8230041..8234141,6	MCF-7	breast:
6	chr12:8088481..8090137-chr12:8171670..8173575,2	K562	blood:
7	chr11:86454887..86455591-chr12:8179213..8179771,2	Hela-S3	cervix:
8	chr12:8180414..8183202-chr12:8226426..8230591,4	K562	blood:
9	chr12:8178228..8180770-chr12:8234363..8236253,3	MCF-7	breast:
10	chr12:8178100..8182086-chr12:8196857..8200725,4	MCF-7	breast:
11	chr12:8176971..8181306-chr12:8183014..8188345,18	MCF-7	breast:
12	chr1:150551587..150552168-chr12:8179086..8179706,2	Hela-S3	cervix:
13	chr12:8083329..8085520-chr12:8141366..8142977,2	K562	blood:
14	chr12:8171182..8172888-chr12:8173729..8176530,2	K562	blood:
15	chr12:8171182..8172888-chr12:8173729..8176530,2	K562	blood:
16	chr12:8178184..8181127-chr12:8181386..8183148,2	MCF-7	breast:
17	chr12:8173305..8176433-chr12:8179006..8181841,3	K562	blood:
18	chr12:8178961..8179803-chr5:38846161..38846673,2	Hela-S3	cervix:
19	chr12:8179516..8181390-chr12:8233303..8235980,2	K562	blood:
20	chr12:8086230..8090473-chr12:8145838..8149446,6	K562	blood:
21	chr12:8178331..8180832-chr12:8228186..8229968,3	MCF-7	breast:
22	chr12:8178833..8179813-chr12:52445614..52446259,2	Hela-S3	cervix:
23	chr12:8178837..8179754-chr5:132299050..132299881,2	Hela-S3	cervix:
24	chr12:8012482..8013075-chr12:8147622..8148284,2	MCF-7	breast:
25	chr12:8174476..8177185-chr12:8177278..8179295,2	MCF-7	breast:
26	chr12:8084166..8086754-chr12:8153249..8156056,2	K562	blood:
27	chr12:8178950..8179618-chr6:170101774..170102473,2	HCT-116	colon:
28	chr12:8178184..8181127-chr12:8181386..8183148,2	MCF-7	breast:
29	chr12:8179880..8182416-chr12:8189059..8190747,2	MCF-7	breast:
30	chr12:8179217..8179741-chr20:47894541..47895211,2	Hela-S3	cervix:
31	chr12:8070261..8071764-chr12:8135788..8138437,2	K562	blood:
32	chr12:8178966..8179959-chr21:38639761..38640366,2	Hela-S3	cervix:
33	chr12:8145440..8147761-chr12:8234352..8236244,2	MCF-7	breast:
34	chr12:8083581..8086103-chr12:8144653..8146389,2	K562	blood:
35	chr12:8178333..8181229-chr12:8233064..8234704,2	MCF-7	breast:
36	chr12:8120815..8122769-chr12:8135785..8138000,2	K562	blood:
37	chr12:8012297..8013140-chr12:8147611..8148236,3	K562	blood:
38	chr12:8173305..8176433-chr12:8179006..8181841,3	K562	blood:
39	chr12:8179156..8179761-chr9:102581954..102582906,2	Hela-S3	cervix:
40	chr12:8174476..8177185-chr12:8177278..8179295,2	MCF-7	breast:
41	chr12:8084020..8086848-chr12:8141207..8142977,3	K562	blood:
42	chr1:169075593..169076555-chr12:8179213..8180108,3	Hela-S3	cervix:
43	chr12:8169775..8172147-chr12:8177880..8181091,3	K562	blood:
44	chr11:61099827..61100764-chr12:8178728..8179263,2	Hela-S3	cervix:
45	chr12:8178885..8179639-chr6:2841125..2841772,2	HCT-116	colon:
46	chr12:8087342..8089043-chr12:8178119..8180785,2	K562	blood:
47	chr12:8178444..8179370-chr17:57920977..57921663,2	Hela-S3	cervix:
48	chr12:8123186..8125071-chr12:8144664..8146577,2	K562	blood:
49	chr12:8179307..8179823-chrX:53448565..53449140,2	Hela-S3	cervix:
50	chr12:8179284..8180074-chr7:66119299..66120199,2	Hela-S3	cervix:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXJ2-1	chr12:8178956-8179309	XLOC_009639
2	lnc-C3AR1-1	chr12:8169309-8169557	NONHSAT026280
3	lnc-C3AR1-1	chr12:8169691-8169776	NONHSAT026280
4	lnc-SLC2A3-3	chr12:8147366-8147680	NONHSAT026281
5	lnc-C3AR1-1	chr12:8145284-8145352	NONHSAT026280
6	lnc-C3AR1-1	chr12:8169633-8169667	NONHSAT026280
7	lnc-C3AR1-1	chr12:8169003-8169017	NONHSAT026280
8	lnc-C3AR1-1	chr12:8168914-8168990	NONHSAT026280
9	lnc-FOXJ2-1	chr12:8177708-8177905	XLOC_009639

No data

Variant related genes	Relation type
ENSG00000255581	TF binding region
ENSG00000240739	TF binding region
FOXJ2	TF binding region
ENSG00000255964	TF binding region
ENSG00000255581	CpG island
ENSG00000240739	CpG island
FOXJ2	CpG island
ENSG00000255964	CpG island
ENSG00000177410	chromatin interactions
ENSG00000065970	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000226824	chromatin interactions
ENSG00000237461	chromatin interactions
ENSG00000157538	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000241828	chromatin interactions
ENSG00000184465	chromatin interactions
ENSG00000272023	chromatin interactions
ENSG00000059804	chromatin interactions
ENSG00000089818	chromatin interactions
ENSG00000255581	chromatin interactions
ENSG00000072364	chromatin interactions
ENSG00000149476	chromatin interactions
ENSG00000072501	chromatin interactions
ENSG00000185127	chromatin interactions
ENSG00000272948	chromatin interactions
ENSG00000167986	chromatin interactions

Extended variants
information (count: 1213 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1213 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7964540	chr12:8130958-8130959	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531831477	chr12:8130967-8130968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs377546903	chr12:8131014-8131015	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142037833	chr12:8131079-8131080	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73262521	chr12:8131096-8131097	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6488808	chr12:8131120-8131121	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7300229	chr12:8131189-8131190	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs151153087	chr12:8131195-8131196	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7310187	chr12:8131233-8131234	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7300337	chr12:8131270-8131271	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34749834	chr12:8131304-8131305	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11056748	chr12:8131325-8131326	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35475772	chr12:8131328-8131329	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184248755	chr12:8131331-8131332	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138078064	chr12:8131337-8131338	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189248058	chr12:8131371-8131372	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539752332	chr12:8131376-8131377	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17199357	chr12:8131381-8131382	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113390620	chr12:8131427-8131428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs68096656	chr12:8131428-8131429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76551939	chr12:8131438-8131439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58811579	chr12:8131439-8131440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148389956	chr12:8131440-8131441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371329572	chr12:8131441-8131442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570199824	chr12:8131489-8131490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140390201	chr12:8131494-8131495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28565460	chr12:8131510-8131511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12231933	chr12:8131517-8131518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12231947	chr12:8131547-8131548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113615813	chr12:8131549-8131550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149964156	chr12:8131550-8131551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79425650	chr12:8131573-8131574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373560095	chr12:8131574-8131575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182240686	chr12:8131591-8131592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184642146	chr12:8131658-8131659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11056750	chr12:8131705-8131706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370261533	chr12:8131733-8131734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115152736	chr12:8131838-8131839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189431834	chr12:8131868-8131869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200471431	chr12:8131907-8131908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368205162	chr12:8131919-8131920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397851165	chr12:8131923-8131924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397810310	chr12:8131943-8131944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112258253	chr12:8131981-8131982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545827230	chr12:8132081-8132082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562683828	chr12:8132193-8132194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181547000	chr12:8132204-8132205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531438596	chr12:8132233-8132234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1964270	chr12:8132242-8132243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138841395	chr12:8132248-8132249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1112 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8125200-8134000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:8126000-8135800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:8126200-8133800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:8128200-8132000	Enhancers	Primary B cells from cord blood	blood
5	chr12:8129000-8131800	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:8129000-8134000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:8129000-8134000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:8129000-8134000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:8129200-8131000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr12:8129400-8131000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:8129400-8134800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:8129600-8131200	Enhancers	GM12878-XiMat	blood
13	chr12:8130200-8131200	Enhancers	Hela-S3	cervix
14	chr12:8130400-8131400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr12:8130800-8131400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:8130800-8142000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:8131200-8133800	Weak transcription	Hela-S3	cervix
18	chr12:8131400-8132200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:8132000-8134000	Weak transcription	Primary B cells from cord blood	blood
20	chr12:8132200-8133800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:8133600-8137200	Enhancers	HepG2	liver
22	chr12:8133800-8134000	Weak transcription	A549	lung
23	chr12:8133800-8134200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:8133800-8134600	Enhancers	Fetal Lung	lung
25	chr12:8133800-8134800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:8133800-8135200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:8133800-8137000	Enhancers	Hela-S3	cervix
28	chr12:8134000-8134200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:8134000-8134200	Enhancers	Primary B cells from cord blood	blood
30	chr12:8134000-8135200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:8134000-8135400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:8134000-8135800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:8134000-8136200	Enhancers	A549	lung
34	chr12:8134200-8134600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:8134200-8142400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:8134600-8136400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:8134800-8135200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:8134800-8135200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:8134800-8135200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:8134800-8137200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:8135200-8136200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:8135200-8142000	Weak transcription	K562	blood
43	chr12:8135800-8136000	Enhancers	Placenta	Placenta
44	chr12:8135800-8136400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:8136000-8138400	Weak transcription	Placenta	Placenta
46	chr12:8136200-8136600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:8136400-8139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:8136400-8143400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:8137000-8137600	Weak transcription	Hela-S3	cervix
50	chr12:8137200-8139200	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links