Variant report

Variant	nsv1049741
Chromosome Location	chr14:71233043-71462509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3945)
CpG islands
(count:2809)
Chromatin interactive
region (count:153)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3945 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:71375376-71375583	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:71439131-71439396	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:71361461-71362018	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:71284372-71284814	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:71284443-71284772	K562	blood:	n/a	n/a
6	ARID3A	chr14:71453850-71454159	K562	blood:	n/a	n/a
7	ARID3A	chr14:71351840-71352115	K562	blood:	n/a	n/a
8	ARID3A	chr14:71340419-71340591	HepG2	liver:	n/a	n/a
9	ARID3A	chr14:71373929-71374421	HepG2	liver:	n/a	n/a
10	ARID3A	chr14:71276464-71276848	HepG2	liver:	n/a	n/a
11	ATF1	chr14:71349878-71350140	K562	blood:	n/a	n/a
12	ATF1	chr14:71284404-71284743	K562	blood:	n/a	n/a
13	ATF1	chr14:71353461-71353701	K562	blood:	n/a	n/a
14	ATF1	chr14:71455163-71455464	K562	blood:	n/a	n/a
15	ATF1	chr14:71351546-71352024	K562	blood:	n/a	n/a
16	ATF2	chr14:71247054-71247788	GM12878	blood:	n/a	n/a
17	ATF2	chr14:71284315-71284822	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr14:71276357-71276899	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr14:71284376-71284776	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr14:71247208-71247665	GM12878	blood:	n/a	n/a
21	ATF2	chr14:71269885-71270492	GM12878	blood:	n/a	n/a
22	ATF2	chr14:71349760-71350288	GM12878	blood:	n/a	n/a
23	ATF2	chr14:71348200-71349213	GM12878	blood:	n/a	n/a
24	ATF2	chr14:71360585-71361103	GM12878	blood:	n/a	n/a
25	ATF2	chr14:71348210-71348994	GM12878	blood:	n/a	n/a
26	ATF2	chr14:71284309-71284784	GM12878	blood:	n/a	n/a
27	ATF2	chr14:71269918-71270409	GM12878	blood:	n/a	n/a
28	ATF2	chr14:71353081-71354548	GM12878	blood:	n/a	n/a
29	ATF2	chr14:71353074-71354442	GM12878	blood:	n/a	n/a
30	ATF2	chr14:71284266-71284837	GM12878	blood:	n/a	n/a
31	ATF2	chr14:71349705-71350296	GM12878	blood:	n/a	n/a
32	ATF3	chr14:71315650-71315906	K562	blood:	n/a	n/a
33	ATF3	chr14:71237208-71237637	HCT-116	colon:	n/a	n/a
34	ATF3	chr14:71373936-71374105	K562	blood:	n/a	n/a
35	ATF3	chr14:71462500-71462644	K562	blood:	n/a	n/a
36	BACH1	chr14:71288671-71289319	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr14:71238595-71239093	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr14:71374691-71375583	H1-hESC	embryonic stem cell:	n/a	n/a
39	BATF	chr14:71242943-71243285	GM12878	blood:	n/a	n/a
40	BATF	chr14:71270036-71270408	GM12878	blood:	n/a	n/a
41	BATF	chr14:71277788-71278078	GM12878	blood:	n/a	n/a
42	BATF	chr14:71353839-71354389	GM12878	blood:	n/a	n/a
43	BATF	chr14:71351145-71351609	GM12878	blood:	n/a	chr14:71351366-71351377
44	BATF	chr14:71360734-71361016	GM12878	blood:	n/a	n/a
45	BATF	chr14:71277802-71278079	GM12878	blood:	n/a	n/a
46	BATF	chr14:71351186-71351547	GM12878	blood:	n/a	chr14:71351366-71351377
47	BATF	chr14:71353044-71354499	GM12878	blood:	n/a	n/a
48	BATF	chr14:71352121-71352407	GM12878	blood:	n/a	n/a
49	BATF	chr14:71349828-71350124	GM12878	blood:	n/a	chr14:71349983-71349994
50	BATF	chr14:71338863-71339242	GM12878	blood:	n/a	n/a

(count:2809 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:71276570-71276620	AG09309	skin:	n/a
2	chr14:71289843-71289893	T-47D	breast:	n/a
3	chr14:71374302-71374352	NH-A	brain:	n/a
4	chr14:71276570-71276620	AG09309	skin:	n/a
5	chr14:71289843-71289893	T-47D	breast:	n/a
6	chr14:71374302-71374352	NH-A	brain:	n/a
7	chr14:71277192-71277242	SK-N-SH	brain:	n/a
8	chr14:71277095-71277145	U87	brain:	n/a
9	chr14:71251181-71251231	SKMC	muscle:	n/a
10	chr14:71275300-71275350	SKMC	muscle:	n/a
11	chr14:71277095-71277145	ECC-1	luminal epithelium:	n/a
12	chr14:71375319-71375369	Hepatocyte	liver:	n/a
13	chr14:71275942-71275992	GM12878	blood:	n/a
14	chr14:71276396-71276446	GM12878	blood:	n/a
15	chr14:71374784-71374834	HRE	kidney:	n/a
16	chr14:71275300-71275350	PFSK-1	brain:	n/a
17	chr14:71279803-71279853	IMR90	lung:	fetal
18	chr14:71374302-71374352	LNCaP	prostate:	n/a
19	chr14:71284925-71284975	NT2-D1	testis:	n/a
20	chr14:71275917-71275967	A549	lung:	n/a
21	chr14:71250264-71250314	HCF	heart:	n/a
22	chr14:71372869-71372919	NT2-D1	testis:	n/a
23	chr14:71277192-71277242	HEK293	kidney:	embryo
24	chr14:71288541-71288591	BJ	skin:	n/a
25	chr14:71250424-71250474	HCT-116	colon:	n/a
26	chr14:71377000-71377050	GM12892	blood:	n/a
27	chr14:71275530-71275580	SAEC	small airway:	n/a
28	chr14:71275920-71275970	SK-N-MC	brain:	n/a
29	chr14:71288954-71289004	SK-N-SH_RA	brain:	n/a
30	chr14:71289522-71289572	HUVEC	blood vessel:	n/a
31	chr14:71277095-71277145	PrEC	prostate:	n/a
32	chr14:71288210-71288260	GM12891	blood:	n/a
33	chr14:71277192-71277242	U87	brain:	n/a
34	chr14:71272941-71272991	PrEC	prostate:	n/a
35	chr14:71373978-71374028	NHDF-neo	bronchial:	n/a
36	chr14:71353208-71353258	HUVEC	blood vessel:	n/a
37	chr14:71370423-71370473	HMEC	breast:	n/a
38	chr14:71373858-71373908	SK-N-SH	brain:	n/a
39	chr14:71250424-71250474	HepG2	liver:	n/a
40	chr14:71275911-71275961	SK-N-SH	brain:	n/a
41	chr14:71289522-71289572	ECC-1	luminal epithelium:	n/a
42	chr14:71250277-71250327	MCF10A-Er-Src	breast:	n/a
43	chr14:71374612-71374662	HIPEpiC	eye:	n/a
44	chr14:71284925-71284975	HL-60	blood:	n/a
45	chr14:71288210-71288260	SK-N-SH	brain:	n/a
46	chr14:71289522-71289572	NH-A	brain:	n/a
47	chr14:71373888-71373938	HRPEpiC	eye:	n/a
48	chr14:71372869-71372919	HepG2	liver:	n/a
49	chr14:71276874-71276924	NB4	blood:	n/a
50	chr14:71323515-71323565	HNPCEpiC	eye:	n/a

(count:153 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr14:71373840..71374362-chr8:136469426..136469930,2	MCF-7	breast:
2	chr14:71367722..71371068-chr14:71372863..71375706,4	MCF-7	breast:
3	chr14:71255787..71258054-chr14:71274426..71275952,2	MCF-7	breast:
4	chr14:71373776..71374491-chr14:71438799..71439724,2	K562	blood:
5	chr14:71233530..71235604-chr14:71275147..71277028,3	MCF-7	breast:
6	chr14:71237542..71240325-chr14:71258119..71261097,3	MCF-7	breast:
7	chr14:71090499..71092186-chr14:71279125..71281274,2	K562	blood:
8	chr14:71294085..71294861-chr14:71422503..71423266,2	MCF-7	breast:
9	chr14:71274346..71277930-chr14:71282688..71286374,5	MCF-7	breast:
10	chr14:71180851..71181383-chr14:71284090..71284884,2	MCF-7	breast:
11	chr14:71362952..71365427-chr14:71368027..71370762,2	MCF-7	breast:
12	chr14:71441488..71443872-chr14:71448426..71449969,2	MCF-7	breast:
13	chr14:71292909..71294702-chr14:71295951..71297910,2	MCF-7	breast:
14	chr14:71278979..71281546-chr14:71282988..71284915,2	MCF-7	breast:
15	chr14:71283754..71285089-chr14:71421790..71423652,9	MCF-7	breast:
16	chr14:71376693..71378500-chr14:71379508..71383597,4	MCF-7	breast:
17	chr14:71278979..71281546-chr14:71282988..71284915,2	MCF-7	breast:
18	chr14:71278091..71280496-chr14:71292784..71294745,2	MCF-7	breast:
19	chr14:71251307..71253279-chr14:71267106..71269549,2	MCF-7	breast:
20	chr14:71284204..71285103-chr14:72219527..72220049,2	K562	blood:
21	chr12:53399239..53400858-chr14:71275577..71277135,2	MCF-7	breast:
22	chr14:71287022..71288979-chr14:71420720..71423622,2	MCF-7	breast:
23	chr14:71283754..71285089-chr14:71421790..71423652,9	MCF-7	breast:
24	chr14:71279107..71280660-chr14:71285570..71287835,2	MCF-7	breast:
25	chr14:71292909..71294702-chr14:71295951..71297910,2	MCF-7	breast:
26	chr14:71294085..71294861-chr14:71422503..71423266,2	MCF-7	breast:
27	chr14:71376408..71378571-chr14:71380621..71383425,3	MCF-7	breast:
28	chr14:71438802..71440447-chr14:71441088..71442805,2	MCF-7	breast:
29	chr14:71284562..71285549-chr14:71293842..71294472,2	K562	blood:
30	chr14:71237788..71240582-chr14:71241825..71244076,2	MCF-7	breast:
31	chr14:71373536..71374504-chr14:71422306..71423404,6	MCF-7	breast:
32	chr14:71370886..71377633-chr14:71420060..71424849,9	MCF-7	breast:
33	chr14:71428566..71431049-chr14:71438511..71440761,2	MCF-7	breast:
34	chr14:71218602..71225147-chr14:71276029..71280278,8	MCF-7	breast:
35	chr14:71275505..71276425-chr14:71284337..71285007,2	MCF-7	breast:
36	chr14:71258916..71261246-chr14:71275354..71278057,3	MCF-7	breast:
37	chr14:71212723..71214667-chr14:71236445..71239410,2	MCF-7	breast:
38	chr14:71284164..71285160-chr14:71438670..71439594,2	MCF-7	breast:
39	chr14:71275463..71276971-chr14:71294330..71295870,2	MCF-7	breast:
40	chr14:71287734..71288653-chr14:71422559..71423263,2	MCF-7	breast:
41	chr14:71251307..71253279-chr14:71267106..71269549,2	MCF-7	breast:
42	chr14:71284168..71285101-chr14:71373914..71374761,2	K562	blood:
43	chr14:71315330..71318187-chr14:71353000..71355911,2	K562	blood:
44	chr14:71108262..71108946-chr14:71275849..71276515,2	MCF-7	breast:
45	chr14:71284167..71284899-chr14:71438728..71439703,4	K562	blood:
46	chr14:71284173..71285067-chr14:71373827..71374530,3	MCF-7	breast:
47	chr14:71355468..71357237-chr14:71359840..71362416,2	MCF-7	breast:
48	chr14:71248666..71250667-chr14:71272733..71274466,2	MCF-7	breast:
49	chr14:71362952..71365427-chr14:71368027..71370762,2	MCF-7	breast:
50	chr14:71234328..71237067-chr14:71247643..71249273,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCNX-2	chr14:71276922-71277008	ENSG00000259153.1
2	lnc-PCNX-2	chr14:71281828-71283587	NONHSAT037592
3	lnc-PCNX-2	chr14:71276648-71277391	NONHSAT037592
4	lnc-PCNX-2	chr14:71276612-71277382	NONHSAT037591
5	lnc-PCNX-2	chr14:71281828-71282108	ENSG00000259153.1
6	lnc-PCNX-2	chr14:71281828-71282021	NONHSAT037591
7	lnc-PCNX-4	chr14:71288641-71288839	NONHSAT037594
8	lnc-MAP3K9-5	chr14:71337707-71338125	FPKM1_group_9264_transcript_1
9	lnc-MAP3K9-6	chr14:71416315-71416475	NONHSAT037599
10	lnc-PCNX-2	chr14:71281828-71282120	ENSG00000259153.1
11	lnc-MAP3K9-6	chr14:71425183-71425396	NONHSAT037599
12	lnc-PCNX-2	chr14:71277047-71277382	ENSG00000259153.1
13	lnc-MAP3K9-5	chr14:71339077-71339304	NONHSAT037596
14	lnc-MAP3K9-4	chr14:71325561-71326146	NONHSAT037595
15	lnc-PCNX-4	chr14:71290537-71290888	NONHSAT037594
16	lnc-MAP3K9-5	chr14:71337844-71338071	FPKM1_group_9264_transcript_1
17	lnc-MAP3K9-5	chr14:71337707-71338125	NONHSAT037596

No data

Variant related genes	Relation type
ENSG00000258431	TF binding region
ENSG00000259153	TF binding region
PCNX	TF binding region
MAP3K9	TF binding region
ENSG00000258431	CpG island
ENSG00000259153	CpG island
PCNX	CpG island
MAP3K9	CpG island
ENSG00000100650	chromatin interactions
ENSG00000119787	chromatin interactions
ENSG00000137274	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000259153	chromatin interactions
ENSG00000258951	chromatin interactions
ENSG00000240837	chromatin interactions
ENSG00000131773	chromatin interactions
ENSG00000006432	chromatin interactions
ENSG00000133985	chromatin interactions
ENSG00000245466	chromatin interactions
ENSG00000100731	chromatin interactions
ENSG00000266411	chromatin interactions
ENSG00000063046	chromatin interactions
ENSG00000259115	chromatin interactions

Extended variants
information (count: 8965 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:8965 , 50 per page) page: 1 2 3 4 5 6 7 ... 180

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375187628	chr14:71233126-71233127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187894736	chr14:71233136-71233137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566284597	chr14:71233146-71233147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138870042	chr14:71233156-71233157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376731806	chr14:71233172-71233173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558464045	chr14:71233207-71233208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570391739	chr14:71233209-71233210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143202201	chr14:71233244-71233245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190803626	chr14:71233257-71233258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147126286	chr14:71233294-71233295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536701761	chr14:71233346-71233347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555208127	chr14:71233392-71233393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561691762	chr14:71233430-71233431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199891574	chr14:71233459-71233460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138527549	chr14:71233494-71233495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565608044	chr14:71233513-71233514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577452135	chr14:71233590-71233591	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs142716703	chr14:71233640-71233641	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2332458	chr14:71233658-71233659	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529756576	chr14:71233702-71233703	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs77065067	chr14:71233705-71233706	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559806503	chr14:71233790-71233791	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs8005459	chr14:71233816-71233817	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551937121	chr14:71233819-71233820	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs533152103	chr14:71233829-71233830	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs570429044	chr14:71233834-71233835	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs538114203	chr14:71233875-71233876	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs550701854	chr14:71233876-71233877	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35955648	chr14:71233963-71233964	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs34281067	chr14:71233975-71233976	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376493586	chr14:71233987-71233988	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs10873242	chr14:71233996-71233997	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532942328	chr14:71234025-71234026	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555144757	chr14:71234027-71234028	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs570027150	chr14:71234032-71234033	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs573355832	chr14:71234050-71234051	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148434583	chr14:71234057-71234058	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141367132	chr14:71234101-71234102	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs78560851	chr14:71234107-71234108	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs67534847	chr14:71234122-71234123	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11622144	chr14:71234128-71234129	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs150564345	chr14:71234240-71234241	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs544844200	chr14:71234246-71234247	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368793579	chr14:71234271-71234272	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs562354911	chr14:71234370-71234371	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs17108492	chr14:71234378-71234379	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs117233769	chr14:71234379-71234380	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs139939889	chr14:71234386-71234387	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs17176971	chr14:71234395-71234396	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551973959	chr14:71234403-71234404	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6346 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71209400-71238200	Weak transcription	Fetal Stomach	stomach
2	chr14:71209400-71238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:71209400-71238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr14:71212000-71238200	Weak transcription	Fetal Intestine Small	intestine
5	chr14:71216400-71238200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:71216600-71245800	Weak transcription	Brain Germinal Matrix	brain
7	chr14:71216800-71238400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:71220600-71238600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:71220800-71240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:71220800-71266400	Weak transcription	Fetal Intestine Large	intestine
11	chr14:71221000-71237600	Weak transcription	Fetal Kidney	kidney
12	chr14:71221800-71239600	Weak transcription	Liver	Liver
13	chr14:71222200-71238000	Weak transcription	Esophagus	oesophagus
14	chr14:71222200-71238200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:71222200-71238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:71222200-71258200	Weak transcription	HepG2	liver
17	chr14:71222400-71238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:71222600-71274600	Weak transcription	Hela-S3	cervix
19	chr14:71222800-71238200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:71223000-71258400	Weak transcription	Primary T cells from cord blood	blood
21	chr14:71223000-71266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:71223400-71240000	Weak transcription	Pancreas	Pancrea
23	chr14:71224000-71258000	Weak transcription	Dnd41	blood
24	chr14:71227600-71238000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:71227800-71235200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:71227800-71238000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:71227800-71238400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:71227800-71245200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:71227800-71245600	Weak transcription	Lung	lung
30	chr14:71227800-71257800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:71228000-71235000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:71228000-71235200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:71228000-71236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:71228000-71237800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:71228000-71238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:71228000-71238200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:71228000-71238400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:71228000-71238400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:71228000-71242000	Weak transcription	GM12878-XiMat	blood
40	chr14:71228000-71245600	Weak transcription	Gastric	stomach
41	chr14:71228000-71258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:71228000-71258000	Weak transcription	A549	lung
43	chr14:71228200-71251400	Weak transcription	Fetal Brain Female	brain
44	chr14:71228200-71258000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:71230200-71234000	Weak transcription	NHEK	skin
46	chr14:71230200-71235400	Weak transcription	HMEC	breast
47	chr14:71230400-71235400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:71230600-71235200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:71232000-71233600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:71233600-71234000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links