Variant report

Variant	nsv883293
Chromosome Location	chr5:180010639-180074248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:808)
CpG islands
(count:4396)
Chromatin interactive
region (count:59)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:808 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr5:180038092-180038427	K562	blood:	n/a	n/a
2	ATF3	chr5:180038227-180038391	K562	blood:	n/a	n/a
3	ATF3	chr5:180014419-180014675	K562	blood:	n/a	n/a
4	BCL3	chr5:180021796-180022349	GM12878	blood:	n/a	n/a
5	BCL3	chr5:180022112-180022394	GM12878	blood:	n/a	n/a
6	CBX3	chr5:180038124-180038384	K562	blood:	n/a	n/a
7	CBX3	chr5:180021566-180021935	K562	blood:	n/a	n/a
8	CEBPB	chr5:180013944-180014115	HepG2	liver:	n/a	n/a
9	CEBPB	chr5:180013911-180014208	K562	blood:	n/a	n/a
10	CEBPB	chr5:180014014-180014110	K562	blood:	n/a	n/a
11	CEBPB	chr5:180013861-180014246	MCF-7	breast:	n/a	n/a
12	CEBPB	chr5:180023747-180024336	MCF-7	breast:	n/a	n/a
13	CREB1	chr5:180038094-180038561	K562	blood:	n/a	n/a
14	CREB1	chr5:180045842-180046437	A549	lung:	n/a	n/a
15	CREB1	chr5:180038106-180038434	A549	lung:	n/a	n/a
16	CREB1	chr5:180058933-180059230	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr5:180033060-180033210	GM12870	blood:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
18	CTCF	chr5:180033395-180033499	GM10266	blood:	n/a	n/a
19	CTCF	chr5:180033006-180033277	HUVEC	blood vessel:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
20	CTCF	chr5:180046260-180046410	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr5:180032601-180032911	K562	blood:	n/a	chr5:180032713-180032731 chr5:180032716-180032725 chr5:180032716-180032729
22	CTCF	chr5:180046240-180046390	GM12864	blood:	n/a	n/a
23	CTCF	chr5:180038320-180038470	A549	lung:	n/a	n/a
24	CTCF	chr5:180033080-180033230	NHDF-neo	bronchial:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
25	CTCF	chr5:180039663-180039890	K562	blood:	n/a	chr5:180039771-180039789
26	CTCF	chr5:180033384-180033478	GM13977	blood:	n/a	n/a
27	CTCF	chr5:180051679-180051730	MCF-7	breast:	n/a	n/a
28	CTCF	chr5:180045980-180046130	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr5:180046240-180046390	HMEC	breast:	n/a	n/a
30	CTCF	chr5:180046240-180046390	GM12870	blood:	n/a	n/a
31	CTCF	chr5:180033080-180033230	GM12864	blood:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
32	CTCF	chr5:180046059-180046102	GM13976	blood:	n/a	n/a
33	CTCF	chr5:180046240-180046390	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr5:180038269-180038404	MCF-7	breast:	n/a	chr5:180038313-180038321
35	CTCF	chr5:180046240-180046390	SAEC	small airway:	n/a	n/a
36	CTCF	chr5:180046294-180046419	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr5:180033060-180033210	GM12873	blood:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
38	CTCF	chr5:180038280-180038430	A549	lung:	n/a	chr5:180038313-180038321
39	CTCF	chr5:180051660-180051774	H1-hESC	embryonic stem cell:	n/a	chr5:180051664-180051677
40	CTCF	chr5:180032440-180032590	HVMF	connective:	n/a	n/a
41	CTCF	chr5:180033060-180033210	HepG2	liver:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
42	CTCF	chr5:180046260-180046410	HMEC	breast:	n/a	n/a
43	CTCF	chr5:180046240-180046390	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr5:180046288-180046429	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr5:180033009-180033253	GM20000	blood:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
46	CTCF	chr5:180038300-180038450	K562	blood:	n/a	chr5:180038313-180038321
47	CTCF	chr5:180033080-180033230	HUVEC	blood vessel:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
48	CTCF	chr5:180057580-180057730	GM12865	blood:	n/a	n/a
49	CTCF	chr5:180032954-180033314	K562	blood:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
50	CTCF	chr5:180033080-180033230	HMEC	breast:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143

(count:4396 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180072420-180072470	AG10803	skin:	n/a
2	chr5:180073429-180073479	SK-N-SH_RA	brain:	n/a
3	chr5:180018722-180018772	AG09319	gingival:	n/a
4	chr5:180071916-180071966	BJ	skin:	n/a
5	chr5:180072420-180072470	AG10803	skin:	n/a
6	chr5:180073429-180073479	SK-N-SH_RA	brain:	n/a
7	chr5:180018722-180018772	AG09319	gingival:	n/a
8	chr5:180071916-180071966	BJ	skin:	n/a
9	chr5:180045822-180045872	AG10803	skin:	n/a
10	chr5:180030008-180030058	LNCaP	prostate:	n/a
11	chr5:180036277-180036327	LNCaP	prostate:	n/a
12	chr5:180022909-180022959	SK-N-MC	brain:	n/a
13	chr5:180033559-180033609	AG04449	skin:	fetal
14	chr5:180072405-180072455	PrEC	prostate:	n/a
15	chr5:180057303-180057353	HepG2	liver:	n/a
16	chr5:180045597-180045647	NT2-D1	testis:	n/a
17	chr5:180050565-180050615	ovcar-3	ovarian:	n/a
18	chr5:180047686-180047736	HepG2	liver:	n/a
19	chr5:180055982-180056032	IMR90	lung:	fetal
20	chr5:180034939-180034989	IMR90	lung:	fetal
21	chr5:180018503-180018553	Jurkat	blood:	n/a
22	chr5:180046052-180046102	MCF10A-Er-Src	breast:	n/a
23	chr5:180057594-180057644	HCF	heart:	n/a
24	chr5:180045597-180045647	U87	brain:	n/a
25	chr5:180071756-180071806	PFSK-1	brain:	n/a
26	chr5:180018564-180018614	SK-N-MC	brain:	n/a
27	chr5:180018562-180018612	HL-60	blood:	n/a
28	chr5:180056301-180056351	HIPEpiC	eye:	n/a
29	chr5:180028818-180028868	GM12878	blood:	n/a
30	chr5:180045597-180045647	K562	blood:	n/a
31	chr5:180073429-180073479	AG09319	gingival:	n/a
32	chr5:180017227-180017277	HL-60	blood:	n/a
33	chr5:180018735-180018785	NH-A	brain:	n/a
34	chr5:180047686-180047736	NHDF-neo	bronchial:	n/a
35	chr5:180073780-180073830	Caco-2	colon:	n/a
36	chr5:180018102-180018152	HMEC	breast:	n/a
37	chr5:180071916-180071966	HCPEpiC	choroid plexus:	n/a
38	chr5:180047299-180047349	NT2-D1	testis:	n/a
39	chr5:180018102-180018152	PANC-1	pancreas:	n/a
40	chr5:180018722-180018772	HNPCEpiC	eye:	n/a
41	chr5:180046052-180046102	AG10803	skin:	n/a
42	chr5:180028658-180028708	H1-hESC	embryonic stem cell:	embryo
43	chr5:180022909-180022959	ECC-1	luminal epithelium:	n/a
44	chr5:180018735-180018785	NHBE	bronchial:	n/a
45	chr5:180030008-180030058	Caco-2	colon:	n/a
46	chr5:180028767-180028817	LNCaP	prostate:	n/a
47	chr5:180041908-180041958	NHDF-neo	bronchial:	n/a
48	chr5:180048893-180048943	HCF	heart:	n/a
49	chr5:180018201-180018251	SK-N-MC	brain:	n/a
50	chr5:180018722-180018772	SK-N-SH	brain:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:180033145..180034677-chr5:180036724..180038959,2	MCF-7	breast:
2	chr5:179926447..179929444-chr5:180030197..180034087,3	MCF-7	breast:
3	chr5:179739596..179742574-chr5:180022400..180024079,2	MCF-7	breast:
4	chr5:180026241..180027759-chr5:180029653..180032526,2	MCF-7	breast:
5	chr5:180017444..180018982-chr5:180034267..180036665,2	MCF-7	breast:
6	chr5:180016834..180019339-chr5:180022480..180024182,5	MCF-7	breast:
7	chr5:180047660..180049691-chr5:180056996..180059691,2	K562	blood:
8	chr5:180010764..180013311-chr5:180015978..180018307,2	MCF-7	breast:
9	chr5:180052176..180054289-chr5:180056133..180059074,3	MCF-7	breast:
10	chr5:179719112..179720727-chr5:180023144..180025071,2	MCF-7	breast:
11	chr5:180032730..180033573-chr5:180097208..180098138,2	MCF-7	breast:
12	chr5:180047630..180050366-chr5:180050889..180052970,2	K562	blood:
13	chr5:179918331..179919238-chr5:180032789..180033687,2	MCF-7	breast:
14	chr5:180015126..180018318-chr5:180024001..180027146,3	K562	blood:
15	chr5:180029601..180031861-chr5:180034178..180035755,2	K562	blood:
16	chr5:180051235..180053741-chr5:180054610..180058069,3	K562	blood:
17	chr5:179921107..179922607-chr5:180049466..180050983,2	MCF-7	breast:
18	chr5:180037911..180038640-chr5:180145288..180145999,2	MCF-7	breast:
19	chr5:180024110..180026371-chr5:180028713..180030538,2	K562	blood:
20	chr5:180033053..180035793-chr5:180035814..180039937,3	K562	blood:
21	chr5:179799196..179802015-chr5:180050331..180053003,2	MCF-7	breast:
22	chr5:180012397..180015247-chr5:180019489..180021552,2	MCF-7	breast:
23	chr5:180048401..180050293-chr5:180059742..180062204,2	MCF-7	breast:
24	chr5:180012400..180013946-chr5:180016793..180018812,2	K562	blood:
25	chr5:180030276..180031977-chr5:180049658..180052103,2	MCF-7	breast:
26	chr5:180022631..180025317-chr5:180096101..180098291,2	MCF-7	breast:
27	chr5:180018107..180022370-chr5:180026154..180031875,8	K562	blood:
28	chr5:180067823..180069604-chr5:180072708..180075164,2	K562	blood:
29	chr5:180047630..180050366-chr5:180050889..180052970,2	K562	blood:
30	chr5:180067823..180069604-chr5:180072708..180075164,2	K562	blood:
31	chr5:180026241..180027759-chr5:180029653..180032526,2	MCF-7	breast:
32	chr5:180012397..180015247-chr5:180019489..180021552,2	MCF-7	breast:
33	chr5:180024110..180026371-chr5:180028713..180030538,2	K562	blood:
34	chr5:180044847..180047372-chr5:180048996..180050512,2	K562	blood:
35	chr5:179758608..179760983-chr5:180044449..180046070,2	MCF-7	breast:
36	chr5:180065065..180066811-chr5:180072819..180075038,2	K562	blood:
37	chr5:180065065..180066811-chr5:180072819..180075038,2	K562	blood:
38	chr5:180048663..180050730-chr5:180113911..180116171,2	K562	blood:
39	chr5:180031301..180033388-chr5:180043244..180045976,2	MCF-7	breast:
40	chr5:180048401..180050293-chr5:180059742..180062204,2	MCF-7	breast:
41	chr5:180046012..180054191-chr5:180056996..180060440,8	K562	blood:
42	chr5:180035679..180038320-chr5:180045902..180049643,3	MCF-7	breast:
43	chr5:180047660..180049691-chr5:180056996..180059691,2	K562	blood:
44	chr5:179918146..179918859-chr5:180033017..180033559,2	MCF-7	breast:
45	chr5:180030276..180031977-chr5:180049658..180052103,2	MCF-7	breast:
46	chr5:180013840..180015463-chr5:180015478..180017355,2	MCF-7	breast:
47	chr5:177543208..177543993-chr5:180022726..180023297,2	MCF-7	breast:
48	chr5:179925282..179927939-chr5:180022784..180024577,2	K562	blood:
49	chr5:180013840..180015463-chr5:180015478..180017355,2	MCF-7	breast:
50	chr5:180008717..180010554-chr5:180013896..180016798,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNOT6-8	chr5:180016483-180016913	NONHSAT105690
2	lnc-CNOT6-7	chr5:180014932-180016100	NONHSAT105689

No data

Variant related genes	Relation type
SCGB3A1	TF binding region
FLT4	TF binding region
SCGB3A1	CpG island
FLT4	CpG island
ENSG00000248367	chromatin interactions
ENSG00000263759	chromatin interactions
ENSG00000161055	chromatin interactions
ENSG00000131459	chromatin interactions
ENSG00000037280	chromatin interactions
ENSG00000113300	chromatin interactions

Extended variants
information (count: 3571 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3571 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11957360	chr5:180010639-180010640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541322179	chr5:180010657-180010658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549534771	chr5:180010685-180010686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568468346	chr5:180010779-180010780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115436021	chr5:180010794-180010795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184249398	chr5:180010800-180010801	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553986839	chr5:180010818-180010819	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368763206	chr5:180010824-180010825	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555455334	chr5:180010855-180010856	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187141745	chr5:180010866-180010867	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534852027	chr5:180010868-180010869	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192732940	chr5:180010884-180010885	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7733872	chr5:180010895-180010896	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184703611	chr5:180010909-180010910	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557088319	chr5:180010931-180010932	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189023582	chr5:180010967-180010968	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs367665192	chr5:180010982-180010983	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs573655153	chr5:180010986-180010987	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs542611076	chr5:180011006-180011007	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189215315	chr5:180011015-180011016	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568541425	chr5:180011074-180011075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528550576	chr5:180011079-180011080	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs545302740	chr5:180011094-180011095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200653505	chr5:180011114-180011115	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs180866712	chr5:180011155-180011156	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs531125505	chr5:180011166-180011167	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551213328	chr5:180011171-180011172	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs35842512	chr5:180011185-180011186	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185111730	chr5:180011187-180011188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371731295	chr5:180011217-180011218	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs189382732	chr5:180011260-180011261	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376718653	chr5:180011299-180011300	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181712363	chr5:180011300-180011301	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs4700962	chr5:180011301-180011302	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564407440	chr5:180011302-180011303	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs186159656	chr5:180011311-180011312	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs144868642	chr5:180011312-180011313	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs4700963	chr5:180011351-180011352	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs557272504	chr5:180011369-180011370	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs573591353	chr5:180011370-180011371	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs536281274	chr5:180011406-180011407	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572490546	chr5:180011418-180011419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369375275	chr5:180011428-180011429	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs552927104	chr5:180011446-180011447	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375531821	chr5:180011508-180011509	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs573023702	chr5:180011533-180011534	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs190127413	chr5:180011549-180011550	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs569751944	chr5:180011576-180011577	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs565345531	chr5:180011666-180011667	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs575746000	chr5:180011678-180011679	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	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
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179994200-180013800	Weak transcription	NHEK	skin
2	chr5:180001200-180012400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:180001200-180012400	Weak transcription	Lung	lung
4	chr5:180001600-180010800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:180003600-180015600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:180003800-180012200	Weak transcription	Primary T cells from cord blood	blood
7	chr5:180003800-180015000	Weak transcription	K562	blood
8	chr5:180004800-180011000	Weak transcription	NH-A	brain
9	chr5:180005600-180011000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:180005600-180015000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:180005800-180010800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:180005800-180010800	Weak transcription	Fetal Heart	heart
13	chr5:180005800-180011000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:180005800-180013000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:180006000-180011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:180007000-180010800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:180010800-180011000	Active TSS	Fetal Heart	heart
18	chr5:180012200-180013000	Active TSS	Primary T cells from cord blood	blood
19	chr5:180012800-180014600	Weak transcription	Lung	lung
20	chr5:180014400-180015400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:180014600-180015200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr5:180014800-180015000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:180015000-180015200	Enhancers	K562	blood
24	chr5:180015000-180015600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
25	chr5:180015200-180015600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr5:180016600-180016800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr5:180016600-180016800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr5:180016600-180016800	Bivalent Enhancer	Fetal Thymus	thymus
29	chr5:180016600-180017000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr5:180016600-180017000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr5:180016600-180017000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:180016800-180017000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr5:180016800-180017000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr5:180016800-180017000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
35	chr5:180016800-180017200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:180016800-180017200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:180016800-180017200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:180016800-180017200	Active TSS	Hela-S3	cervix
39	chr5:180016800-180017400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr5:180016800-180017400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr5:180016800-180017400	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr5:180016800-180017600	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr5:180016800-180017800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
44	chr5:180016800-180017800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr5:180016800-180018200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr5:180016800-180018400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:180016800-180018600	Bivalent Enhancer	Fetal Lung	lung
48	chr5:180016800-180018800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr5:180016800-180019000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
50	chr5:180016800-180019000	Flanking Active TSS	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links