Variant report

Variant	nsv427739
Chromosome Location	chr5:177766033-177966666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1552)
CpG islands
(count:4457)
Chromatin interactive
region (count:117)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1552 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:177888233-177888383	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:177877562-177878156	K562	blood:	n/a	n/a
3	ARID3A	chr5:177880009-177880448	K562	blood:	n/a	n/a
4	ARID3A	chr5:177801961-177802199	K562	blood:	n/a	n/a
5	ARID3A	chr5:177875635-177876882	K562	blood:	n/a	n/a
6	ARID3A	chr5:177844349-177844766	K562	blood:	n/a	n/a
7	ATF1	chr5:177784865-177785532	K562	blood:	n/a	n/a
8	ATF1	chr5:177876057-177876633	K562	blood:	n/a	n/a
9	ATF1	chr5:177844242-177844772	K562	blood:	n/a	n/a
10	ATF1	chr5:177914943-177915183	K562	blood:	n/a	n/a
11	BACH1	chr5:177920408-177920532	K562	blood:	n/a	n/a
12	BACH1	chr5:177886021-177886090	K562	blood:	n/a	n/a
13	BACH1	chr5:177888080-177888450	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr5:177869383-177869508	K562	blood:	n/a	n/a
15	BACH1	chr5:177876133-177876859	K562	blood:	n/a	n/a
16	BACH1	chr5:177956139-177956325	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr5:177844549-177844755	K562	blood:	n/a	n/a
18	BACH1	chr5:177934563-177934814	K562	blood:	n/a	n/a
19	BACH1	chr5:177872621-177872910	K562	blood:	n/a	n/a
20	BCL3	chr5:177784633-177785793	GM12878	blood:	n/a	n/a
21	BCLAF1	chr5:177876134-177876491	K562	blood:	n/a	n/a
22	BHLHE40	chr5:177956208-177956472	K562	blood:	n/a	n/a
23	BHLHE40	chr5:177876113-177877870	K562	blood:	n/a	n/a
24	BHLHE40	chr5:177956283-177956517	GM12878	blood:	n/a	n/a
25	BHLHE40	chr5:177880099-177880651	K562	blood:	n/a	n/a
26	BHLHE40	chr5:177910649-177910918	GM12878	blood:	n/a	n/a
27	BHLHE40	chr5:177929771-177930071	GM12878	blood:	n/a	n/a
28	BHLHE40	chr5:177934517-177934717	K562	blood:	n/a	n/a
29	BHLHE40	chr5:177930090-177930416	K562	blood:	n/a	n/a
30	BHLHE40	chr5:177921213-177921579	K562	blood:	n/a	n/a
31	BHLHE40	chr5:177888120-177888558	K562	blood:	n/a	n/a
32	BHLHE40	chr5:177918301-177918460	K562	blood:	n/a	chr5:177918370-177918383
33	BHLHE40	chr5:177847184-177847250	K562	blood:	n/a	n/a
34	BHLHE40	chr5:177826063-177826418	K562	blood:	n/a	chr5:177826237-177826250
35	BHLHE40	chr5:177844227-177844729	K562	blood:	n/a	n/a
36	BHLHE40	chr5:177910645-177910908	K562	blood:	n/a	n/a
37	BHLHE40	chr5:177962319-177962548	K562	blood:	n/a	n/a
38	BHLHE40	chr5:177895932-177896151	K562	blood:	n/a	n/a
39	BRCA1	chr5:177888202-177888501	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr5:177888215-177888415	HepG2	liver:	n/a	n/a
41	CBX3	chr5:177876066-177876600	K562	blood:	n/a	n/a
42	CBX3	chr5:177934424-177934912	K562	blood:	n/a	n/a
43	CBX3	chr5:177876014-177876642	K562	blood:	n/a	n/a
44	CBX3	chr5:177934495-177934851	K562	blood:	n/a	n/a
45	CCNT2	chr5:177877417-177877873	K562	blood:	n/a	n/a
46	CCNT2	chr5:177844365-177844831	K562	blood:	n/a	n/a
47	CCNT2	chr5:177882316-177882695	K562	blood:	n/a	n/a
48	CCNT2	chr5:177869079-177869128	K562	blood:	n/a	n/a
49	CCNT2	chr5:177840401-177840601	K562	blood:	n/a	n/a
50	CCNT2	chr5:177876058-177876813	K562	blood:	n/a	chr5:177876543-177876552 chr5:177876671-177876680 chr5:177876666-177876675

(count:4457 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177799357-177799407	GM12892	blood:	n/a
2	chr5:177876930-177876980	Caco-2	colon:	n/a
3	chr5:177853574-177853624	BE2_C	brain:	n/a
4	chr5:177821799-177821849	ECC-1	luminal epithelium:	n/a
5	chr5:177799357-177799407	GM12892	blood:	n/a
6	chr5:177876930-177876980	Caco-2	colon:	n/a
7	chr5:177853574-177853624	BE2_C	brain:	n/a
8	chr5:177821799-177821849	ECC-1	luminal epithelium:	n/a
9	chr5:177953742-177953792	HRCEpiC	kidney:	n/a
10	chr5:177799205-177799255	Caco-2	colon:	n/a
11	chr5:177853642-177853692	HAEpiC	amniotic membrane:	n/a
12	chr5:177947425-177947475	HRCEpiC	kidney:	n/a
13	chr5:177941879-177941929	HCM	heart:	n/a
14	chr5:177952711-177952761	T-47D	breast:	n/a
15	chr5:177814702-177814752	AG09309	skin:	n/a
16	chr5:177882205-177882255	NB4	blood:	n/a
17	chr5:177951909-177951959	RPTEC	kidney:	n/a
18	chr5:177952059-177952109	HIPEpiC	eye:	n/a
19	chr5:177916395-177916445	SK-N-SH	brain:	n/a
20	chr5:177953742-177953792	HIPEpiC	eye:	n/a
21	chr5:177913468-177913518	GM12892	blood:	n/a
22	chr5:177776479-177776529	K562	blood:	n/a
23	chr5:177890047-177890097	NT2-D1	testis:	n/a
24	chr5:177875440-177875490	HIPEpiC	eye:	n/a
25	chr5:177964789-177964839	AG04449	skin:	fetal
26	chr5:177951909-177951959	Hepatocyte	liver:	n/a
27	chr5:177824403-177824453	Hela-S3	cervix:	n/a
28	chr5:177942856-177942906	HCM	heart:	n/a
29	chr5:177799357-177799407	MCF10A-Er-Src	breast:	n/a
30	chr5:177944298-177944348	BE2_C	brain:	n/a
31	chr5:177882221-177882271	AG04449	skin:	fetal
32	chr5:177811349-177811399	HAEpiC	amniotic membrane:	n/a
33	chr5:177929808-177929858	AG04449	skin:	fetal
34	chr5:177776479-177776529	HepG2	liver:	n/a
35	chr5:177942856-177942906	K562	blood:	n/a
36	chr5:177853642-177853692	ECC-1	luminal epithelium:	n/a
37	chr5:177821870-177821920	Hela-S3	cervix:	n/a
38	chr5:177952711-177952761	H1-hESC	embryonic stem cell:	embryo
39	chr5:177890816-177890866	BJ	skin:	n/a
40	chr5:177876830-177876880	HL-60	blood:	n/a
41	chr5:177890863-177890913	HepG2	liver:	n/a
42	chr5:177952737-177952787	HCM	heart:	n/a
43	chr5:177953742-177953792	HEK293	kidney:	embryo
44	chr5:177952737-177952787	AG09309	skin:	n/a
45	chr5:177946120-177946170	AG09319	gingival:	n/a
46	chr5:177811349-177811399	HCF	heart:	n/a
47	chr5:177915909-177915959	NH-A	brain:	n/a
48	chr5:177942470-177942520	GM12892	blood:	n/a
49	chr5:177853481-177853531	PFSK-1	brain:	n/a
50	chr5:177949147-177949197	RPTEC	kidney:	n/a

(count:117 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:177887745..177890184-chr5:177903224..177905118,2	K562	blood:
2	chr5:177757932..177760832-chr5:177771910..177774390,2	K562	blood:
3	chr5:177844389..177846173-chr5:177851202..177854065,2	MCF-7	breast:
4	chr5:177933177..177935280-chr5:177937428..177940309,2	MCF-7	breast:
5	chr5:177816543..177819082-chr5:177820341..177823036,2	K562	blood:
6	chr5:177861712..177864496-chr5:177868184..177871226,3	K562	blood:
7	chr5:177871515..177874034-chr5:177875821..177877688,2	MCF-7	breast:
8	chr5:177811102..177814167-chr5:177815792..177819406,4	K562	blood:
9	chr5:177879706..177881386-chr5:177883345..177884930,2	K562	blood:
10	chr5:177871515..177874034-chr5:177875821..177877688,2	MCF-7	breast:
11	chr5:177790380..177792280-chr5:177796021..177798764,2	K562	blood:
12	chr5:177876786..177879529-chr5:177883377..177886367,2	K562	blood:
13	chr5:177786537..177789455-chr5:177802501..177804616,2	K562	blood:
14	chr5:177887745..177890184-chr5:177903224..177905118,2	K562	blood:
15	chr5:177894292..177896063-chr5:177897258..177899224,2	K562	blood:
16	chr14:64969090..64970821-chr5:177778955..177780631,2	MCF-7	breast:
17	chr5:177888015..177888839-chr5:177977833..177978735,3	MCF-7	breast:
18	chr5:177882178..177883994-chr5:177886180..177888676,2	K562	blood:
19	chr5:177768665..177770480-chr5:177878843..177880879,2	K562	blood:
20	chr5:177873433..177876156-chr5:177880110..177882555,2	K562	blood:
21	chr5:177770218..177772019-chr5:177775169..177777539,2	MCF-7	breast:
22	chr5:177864722..177866446-chr5:177868114..177869710,2	K562	blood:
23	chr5:177775759..177777700-chr5:177785151..177787817,3	K562	blood:
24	chr5:177786537..177789455-chr5:177802501..177804616,2	K562	blood:
25	chr5:177933177..177935280-chr5:177937428..177940309,2	MCF-7	breast:
26	chr5:177811102..177812638-chr5:177817501..177819406,2	K562	blood:
27	chr5:177799370..177801920-chr5:177806975..177809019,2	MCF-7	breast:
28	chr5:177777429..177779459-chr5:177792254..177794069,2	MCF-7	breast:
29	chr5:177940111..177942825-chr5:177947320..177948869,2	MCF-7	breast:
30	chr5:177775759..177777700-chr5:177785151..177787817,3	K562	blood:
31	chr5:177861063..177863215-chr5:177895852..177898464,2	K562	blood:
32	chr5:177804316..177806496-chr5:177806617..177809077,2	K562	blood:
33	chr5:177784139..177785777-chr5:177788896..177791858,2	K562	blood:
34	chr5:177804849..177806989-chr5:177807066..177809838,2	MCF-7	breast:
35	chr5:177938102..177940198-chr5:177941546..177944250,2	MCF-7	breast:
36	chr5:177873433..177876156-chr5:177880110..177882555,2	K562	blood:
37	chr5:177806047..177808844-chr5:177816962..177819431,2	K562	blood:
38	chr5:177892314..177894580-chr5:177899757..177901738,2	K562	blood:
39	chr5:177888252..177888759-chr5:177978244..177978784,2	K562	blood:
40	chr5:177799370..177801920-chr5:177806975..177809019,2	MCF-7	breast:
41	chr5:177861712..177865085-chr5:177866946..177869684,3	K562	blood:
42	chr5:177768665..177770480-chr5:177878843..177880879,2	K562	blood:
43	chr5:177865902..177866648-chr5:177887888..177888885,2	K562	blood:
44	chr5:177881991..177885625-chr5:177886030..177888202,3	MCF-7	breast:
45	chr5:177843982..177846399-chr5:177848195..177849989,2	MCF-7	breast:
46	chr5:177892314..177894580-chr5:177899757..177901738,2	K562	blood:
47	chr5:177893036..177895122-chr5:177964444..177967291,2	K562	blood:
48	chr5:177811102..177812638-chr5:177817501..177819406,2	K562	blood:
49	chr5:177811102..177814167-chr5:177815792..177819406,4	K562	blood:
50	chr5:177915163..177917911-chr5:177920254..177922621,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPAB-5	chr5:177771844-177772317	NONHSAT105530
2	lnc-CLK4-1	chr5:177865682-177866970	ENSG00000245688.1
3	lnc-CLK4-1	chr5:177869927-177870095	ENSG00000245688.1
4	lnc-HNRNPAB-6	chr5:177804925-177805219	NONHSAT105532
5	lnc-HNRNPAB-3	chr5:177777868-177778200	ENSG00000253698.1
6	lnc-CLK4-2	chr5:177950506-177950714	NONHSAT105537
7	lnc-HNRNPAB-3	chr5:177778919-177779251	ENSG00000253698.1

No data

Variant related genes	Relation type
RN7SL646P	TF binding region
ENSG00000253698	TF binding region
ENSG00000271681	TF binding region
ENSG00000245688	TF binding region
RN7SL646P	CpG island
ENSG00000253698	CpG island
ENSG00000271681	CpG island
ENSG00000245688	CpG island
ENSG00000253698	chromatin interactions
ENSG00000242341	chromatin interactions
ENSG00000271681	chromatin interactions
ENSG00000245688	chromatin interactions
ENSG00000089775	chromatin interactions
ENSG00000126804	chromatin interactions

Extended variants
information (count: 9043 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:9043 , 50 per page) page: 1 2 3 4 5 6 7 ... 181

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573815728	chr5:177766043-177766044	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs4976761	chr5:177766183-177766184	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs559281420	chr5:177766196-177766197	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs36064986	chr5:177766225-177766226	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs9329143	chr5:177766243-177766244	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs544817031	chr5:177766254-177766255	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs529382095	chr5:177766262-177766263	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564210394	chr5:177766267-177766268	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs531692399	chr5:177766345-177766346	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs73346830	chr5:177766534-177766535	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73346831	chr5:177766541-177766542	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs75940513	chr5:177766560-177766561	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs574586839	chr5:177766575-177766576	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs2973808	chr5:177766580-177766581	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540005869	chr5:177766593-177766594	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs370866313	chr5:177766601-177766602	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs552025609	chr5:177766604-177766605	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs534669742	chr5:177766660-177766661	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs191626328	chr5:177766672-177766673	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs184211383	chr5:177766680-177766681	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs555060073	chr5:177766693-177766694	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs77882572	chr5:177766723-177766724	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs188254761	chr5:177766731-177766732	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs375786220	chr5:177766760-177766761	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs537715702	chr5:177766782-177766783	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs552811909	chr5:177766901-177766902	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs577536013	chr5:177766923-177766924	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs72820951	chr5:177766968-177766969	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556745545	chr5:177766972-177766973	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs576118566	chr5:177766983-177766984	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs543941163	chr5:177767007-177767008	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs191608921	chr5:177767062-177767063	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs529322211	chr5:177767067-177767068	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs549706042	chr5:177767082-177767083	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs147580345	chr5:177767096-177767097	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs560059193	chr5:177767149-177767150	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs185622796	chr5:177767171-177767172	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs540334881	chr5:177767217-177767218	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs551964406	chr5:177767225-177767226	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs570305852	chr5:177767260-177767261	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs34965825	chr5:177767278-177767279	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530519672	chr5:177767286-177767287	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs190244295	chr5:177767342-177767343	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs182476661	chr5:177767350-177767351	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534580554	chr5:177767351-177767352	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs552550226	chr5:177767352-177767353	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs144153077	chr5:177767371-177767372	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs574248332	chr5:177767429-177767430	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186543986	chr5:177767450-177767451	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs556733428	chr5:177767462-177767463	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	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
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
small cell lung cancer	20016488	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:2429 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177759400-177783400	Weak transcription	Right Atrium	heart
2	chr5:177760600-177766400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:177762600-177775400	Weak transcription	Thymus	Thymus
4	chr5:177762800-177766800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:177763000-177767200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:177763200-177766400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:177764000-177767600	Bivalent Enhancer	Fetal Stomach	stomach
8	chr5:177764200-177768400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:177764400-177766600	Enhancers	Fetal Thymus	thymus
10	chr5:177764400-177767200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr5:177764800-177768000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:177765000-177766200	Flanking Active TSS	Liver	Liver
13	chr5:177765000-177766200	Enhancers	HSMMtube	muscle
14	chr5:177765000-177767800	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr5:177765200-177766600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:177765200-177770000	Weak transcription	Fetal Lung	lung
17	chr5:177765400-177766600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:177765400-177767800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:177765600-177766200	Enhancers	NHEK	skin
20	chr5:177766000-177767400	Enhancers	Placenta	Placenta
21	chr5:177766200-177767000	Enhancers	Liver	Liver
22	chr5:177766400-177766600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:177766400-177766800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr5:177766400-177768000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:177766600-177768000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:177766600-177768800	Weak transcription	Fetal Thymus	thymus
27	chr5:177766800-177767800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:177766800-177768000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:177767000-177767800	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:177767000-177767800	Weak transcription	Liver	Liver
31	chr5:177767000-177768000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:177767200-177767600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr5:177767400-177769600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr5:177767800-177768200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr5:177767800-177769800	Strong transcription	Liver	Liver
36	chr5:177768000-177769200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:177768200-177783000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:177768800-177769200	Bivalent Enhancer	HepG2	liver
39	chr5:177768800-177769600	Enhancers	Fetal Thymus	thymus
40	chr5:177769200-177769400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:177769400-177770400	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr5:177769400-177774000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:177769600-177783200	Weak transcription	Fetal Thymus	thymus
44	chr5:177769800-177770400	Enhancers	Adipose Nuclei	Adipose
45	chr5:177769800-177770400	Enhancers	Fetal Kidney	kidney
46	chr5:177769800-177770600	Enhancers	Fetal Stomach	stomach
47	chr5:177769800-177773400	Weak transcription	Liver	Liver
48	chr5:177770000-177770400	Enhancers	Fetal Lung	lung
49	chr5:177772200-177772400	Enhancers	Brain Substantia Nigra	brain
50	chr5:177772600-177774000	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links