Variant report

Variant	nsv508362
Chromosome Location	chr5:59990308-60050894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:911)
CpG islands
(count:1406)
Chromatin interactive
region (count:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:911 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:59999797-60000151	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:59996034-59996038	K562	blood:	n/a	n/a
3	ARID3A	chr5:59995305-59996360	HepG2	liver:	n/a	n/a
4	ATF1	chr5:59995447-59996702	K562	blood:	n/a	n/a
5	ATF1	chr5:60018170-60018424	K562	blood:	n/a	n/a
6	ATF2	chr5:59995701-59996325	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr5:59995674-59996236	GM12878	blood:	n/a	n/a
8	ATF2	chr5:59995349-59996155	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr5:59995819-59996207	K562	blood:	n/a	chr5:59996023-59996043 chr5:59996035-59996046
10	BACH1	chr5:59995416-59996305	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr5:60034409-60034644	GM12878	blood:	n/a	n/a
12	BATF	chr5:60034434-60034644	GM12878	blood:	n/a	n/a
13	BCL3	chr5:59995402-59996329	A549	lung:	n/a	chr5:59995938-59995951 chr5:59995934-59995947 chr5:59996005-59996018 chr5:59995768-59995781 chr5:59995966-59995979
14	BCLAF1	chr5:59995423-59996324	GM12878	blood:	n/a	chr5:59995938-59995951 chr5:59995934-59995947 chr5:59996005-59996018 chr5:59995768-59995781 chr5:59995966-59995979
15	BCLAF1	chr5:59995291-59996358	GM12878	blood:	n/a	chr5:59995938-59995951 chr5:59995934-59995947 chr5:59996005-59996018 chr5:59995768-59995781 chr5:59995966-59995979
16	BHLHE40	chr5:59995711-59996635	GM12878	blood:	n/a	chr5:59995940-59995956 chr5:59995931-59995947
17	BHLHE40	chr5:59990190-59990374	K562	blood:	n/a	n/a
18	BHLHE40	chr5:59995469-59997496	K562	blood:	n/a	chr5:59995940-59995956 chr5:59995931-59995947
19	BRCA1	chr5:59995307-59996461	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr5:59995376-59996098	HepG2	liver:	n/a	n/a
21	BRCA1	chr5:59995808-59996235	GM12878	blood:	n/a	n/a
22	CBX3	chr5:59995862-59996182	K562	blood:	n/a	n/a
23	CBX3	chr5:59995381-59996849	K562	blood:	n/a	n/a
24	CBX3	chr5:60036251-60036420	K562	blood:	n/a	n/a
25	CCNT2	chr5:59995634-59996720	K562	blood:	n/a	chr5:59996179-59996188
26	CCNT2	chr5:59997685-59997818	K562	blood:	n/a	n/a
27	CEBPB	chr5:59996231-59997044	K562	blood:	n/a	n/a
28	CEBPB	chr5:60015212-60015513	IMR90	lung:	n/a	chr5:60015363-60015374
29	CEBPB	chr5:60016700-60016928	HepG2	liver:	n/a	chr5:60016776-60016787
30	CEBPB	chr5:60020880-60021205	HepG2	liver:	n/a	chr5:60021037-60021048
31	CEBPB	chr5:60016669-60016934	IMR90	lung:	n/a	chr5:60016776-60016787
32	CEBPB	chr5:60020890-60021190	A549	lung:	n/a	chr5:60021037-60021048
33	CEBPB	chr5:60015199-60015530	MCF-7	breast:	n/a	chr5:60015363-60015374
34	CEBPB	chr5:59995520-59996098	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr5:59999872-60000091	HepG2	liver:	n/a	n/a
36	CEBPB	chr5:60034323-60034571	HepG2	liver:	n/a	n/a
37	CEBPB	chr5:59997360-59997660	K562	blood:	n/a	n/a
38	CEBPB	chr5:60020895-60021163	K562	blood:	n/a	chr5:60021037-60021048
39	CEBPB	chr5:60015213-60015522	H1-hESC	embryonic stem cell:	n/a	chr5:60015363-60015374
40	CEBPB	chr5:59999774-60000259	A549	lung:	n/a	n/a
41	CEBPB	chr5:59995859-59996093	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr5:60015212-60015521	A549	lung:	n/a	chr5:60015363-60015374
43	CEBPB	chr5:60004676-60004744	HepG2	liver:	n/a	chr5:60004699-60004710
44	CEBPB	chr5:60015161-60015553	HCT-116	colon:	n/a	chr5:60015363-60015374
45	CEBPB	chr5:59999783-60000117	MCF-7	breast:	n/a	n/a
46	CEBPB	chr5:60050748-60051054	HepG2	liver:	n/a	chr5:60050867-60050878 chr5:60050867-60050880 chr5:60050869-60050878
47	CEBPB	chr5:60015219-60015527	Hela-S3	cervix:	n/a	chr5:60015363-60015374
48	CEBPB	chr5:60050828-60051008	A549	lung:	n/a	chr5:60050867-60050878 chr5:60050867-60050880 chr5:60050869-60050878
49	CEBPB	chr5:59997356-59997558	K562	blood:	n/a	n/a
50	CEBPB	chr5:60018495-60018522	A549	lung:	n/a	n/a

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:59999842-59999892	HMEC	breast:	n/a
2	chr5:59996120-59996170	AG04450	lung:	fetal
3	chr5:59996120-59996170	AG09319	gingival:	n/a
4	chr5:59999842-59999892	HMEC	breast:	n/a
5	chr5:59996120-59996170	AG04450	lung:	fetal
6	chr5:59996120-59996170	AG09319	gingival:	n/a
7	chr5:60050299-60050349	HIPEpiC	eye:	n/a
8	chr5:59996105-59996155	SKMC	muscle:	n/a
9	chr5:59995715-59995765	SAEC	small airway:	n/a
10	chr5:59995837-59995887	GM12891	blood:	n/a
11	chr5:59996120-59996170	HUVEC	blood vessel:	n/a
12	chr5:59996105-59996155	Hela-S3	cervix:	n/a
13	chr5:60050299-60050349	NT2-D1	testis:	n/a
14	chr5:60038293-60038343	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:60039648-60039698	HCPEpiC	choroid plexus:	n/a
16	chr5:60039819-60039869	GM12892	blood:	n/a
17	chr5:60039819-60039869	PANC-1	pancreas:	n/a
18	chr5:60050299-60050349	HL-60	blood:	n/a
19	chr5:59995715-59995765	SK-N-SH_RA	brain:	n/a
20	chr5:60039729-60039779	K562	blood:	n/a
21	chr5:59995715-59995765	GM06990	blood:	n/a
22	chr5:59999842-59999892	HepG2	liver:	n/a
23	chr5:59996115-59996165	ECC-1	luminal epithelium:	n/a
24	chr5:60040736-60040786	U87	brain:	n/a
25	chr5:59995354-59995404	NB4	blood:	n/a
26	chr5:59996115-59996165	GM12878	blood:	n/a
27	chr5:59996120-59996170	HCT-116	colon:	n/a
28	chr5:59996120-59996170	NHBE	bronchial:	n/a
29	chr5:60040736-60040786	GM12891	blood:	n/a
30	chr5:59995354-59995404	PANC-1	pancreas:	n/a
31	chr5:59996115-59996165	HMEC	breast:	n/a
32	chr5:59996025-59996075	HIPEpiC	eye:	n/a
33	chr5:59996455-59996505	MCF-7	breast:	n/a
34	chr5:60040736-60040786	NHDF-neo	bronchial:	n/a
35	chr5:59995837-59995887	HUVEC	blood vessel:	n/a
36	chr5:59999842-59999892	NT2-D1	testis:	n/a
37	chr5:59996105-59996155	HUVEC	blood vessel:	n/a
38	chr5:59992788-59992838	Hela-S3	cervix:	n/a
39	chr5:60040736-60040786	GM06990	blood:	n/a
40	chr5:59996421-59996471	SAEC	small airway:	n/a
41	chr5:59996115-59996165	NHDF-neo	bronchial:	n/a
42	chr5:60038293-60038343	Hela-S3	cervix:	n/a
43	chr5:59995433-59995483	GM12878	blood:	n/a
44	chr5:59996105-59996155	Caco-2	colon:	n/a
45	chr5:59996025-59996075	HRE	kidney:	n/a
46	chr5:59995354-59995404	HIPEpiC	eye:	n/a
47	chr5:59996328-59996378	HEK293	kidney:	embryo
48	chr5:60050299-60050349	SAEC	small airway:	n/a
49	chr5:60039729-60039779	AoSMC	blood vessel:	n/a
50	chr5:60039648-60039698	CMK	blood:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
2	chr5:59996423..59998684-chr5:60001090..60003995,3	MCF-7	breast:
3	chr5:59995350..59997685-chr5:60013817..60015447,2	K562	blood:
4	chr5:59982671..59990838-chr5:59991133..59997951,12	MCF-7	breast:
5	chr5:59994766..59997434-chr5:59998869..60000673,3	MCF-7	breast:
6	chr5:59994210..59996553-chr5:60627404..60629725,2	MCF-7	breast:
7	chr5:59994332..59996148-chr5:60627447..60629730,3	K562	blood:
8	chr5:60046195..60048141-chr5:60138648..60140514,2	MCF-7	breast:
9	chr5:59990643..59992382-chr5:60006988..60008746,2	K562	blood:
10	chr5:59995886..59998322-chr5:60239584..60242446,2	MCF-7	breast:
11	chr5:60037106..60038817-chr5:60040553..60043083,2	MCF-7	breast:
12	chr5:59994985..59997497-chr5:60017643..60020875,3	MCF-7	breast:
13	chr5:59995106..59997535-chr5:60240120..60242292,3	K562	blood:
14	chr5:59994096..59995835-chr5:60107793..60109955,2	MCF-7	breast:
15	chr5:59994459..59997012-chr5:59999943..60002207,3	K562	blood:
16	chr5:59984165..59985932-chr5:59998391..60001093,2	K562	blood:
17	chr5:59998583..60001649-chr5:60008376..60010857,3	K562	blood:
18	chr5:59990643..59992382-chr5:60006988..60008746,2	K562	blood:
19	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
20	chr5:59994474..59997876-chr5:60455928..60460228,5	K562	blood:
21	chr10:75385509..75386409-chr5:59996058..59996562,2	HCT-116	colon:
22	chr5:59986799..59989085-chr5:59989251..59992450,3	MCF-7	breast:
23	chr5:59933171..59934818-chr5:59991480..59994360,2	K562	blood:
24	chr5:59968561..59971245-chr5:59997935..60000093,2	MCF-7	breast:
25	chr5:59994018..59997409-chr5:59998010..60001591,3	MCF-7	breast:
26	chr5:60017651..60020271-chr5:60037416..60040413,2	MCF-7	breast:
27	chr5:59994459..59997087-chr5:60000577..60002875,2	K562	blood:
28	chr5:60006154..60007664-chr5:60138828..60140875,2	MCF-7	breast:
29	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:
30	chr5:59998796..60001597-chr5:60005006..60007976,2	MCF-7	breast:
31	chr5:60050521..60052217-chr5:60052630..60054560,2	MCF-7	breast:
32	chr5:59993402..59996272-chr5:60048809..60051606,2	MCF-7	breast:
33	chr5:59982948..59985839-chr5:59989149..59990796,3	K562	blood:
34	chr5:59998796..60001597-chr5:60005006..60007976,2	MCF-7	breast:
35	chr5:59993591..59996148-chr5:60625919..60628980,4	K562	blood:
36	chr5:59998583..60001649-chr5:60008376..60010857,3	K562	blood:
37	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:
38	chr5:60017651..60020271-chr5:60037416..60040413,2	MCF-7	breast:
39	chr5:59996423..59998684-chr5:60001090..60003995,3	MCF-7	breast:
40	chr5:60042570..60044385-chr5:60079016..60080838,2	K562	blood:
41	chr5:59978724..59981449-chr5:59990551..59993454,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ELOVL7	hsa-miR-21-5p	chr5:60048157-60048175
2	ELOVL7	hsa-miR-21-5p	chr5:60049832-60049858

Variant related genes	Relation type
DEPDC1B	TF binding region
KRT8P31	TF binding region
DEPDC1B	CpG island
KRT8P31	CpG island
ENSG00000251279	chromatin interactions
ENSG00000164181	chromatin interactions
ENSG00000268584	chromatin interactions
ENSG00000049167	chromatin interactions
ENSG00000188725	chromatin interactions
ENSG00000166348	chromatin interactions
ENSG00000164182	chromatin interactions
ENSG00000130449	chromatin interactions
ENSG00000250148	chromatin interactions
ENSG00000035499	chromatin interactions

Extended variants
information (count: 1792 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1792 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7712043	chr5:59990319-59990320	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185180713	chr5:59990366-59990367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146053697	chr5:59990388-59990389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571438230	chr5:59990394-59990395	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140047472	chr5:59990432-59990433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188565257	chr5:59990585-59990586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573950715	chr5:59990594-59990595	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536956210	chr5:59990648-59990649	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181059622	chr5:59990671-59990672	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576727142	chr5:59990740-59990741	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571302178	chr5:59990760-59990761	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536396820	chr5:59990854-59990855	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545644315	chr5:59990868-59990869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573134243	chr5:59990912-59990913	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565461763	chr5:59990916-59990917	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185437131	chr5:59991002-59991003	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539947778	chr5:59991008-59991009	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560093894	chr5:59991020-59991021	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188340316	chr5:59991066-59991067	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180809426	chr5:59991188-59991189	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538619069	chr5:59991241-59991242	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77748193	chr5:59991248-59991249	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144144137	chr5:59991252-59991253	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551199101	chr5:59991338-59991339	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113205597	chr5:59991400-59991401	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368341317	chr5:59991436-59991437	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534352957	chr5:59991508-59991509	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62370882	chr5:59991509-59991510	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151199887	chr5:59991525-59991526	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6896680	chr5:59991531-59991532	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs532729347	chr5:59991593-59991594	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556920239	chr5:59991607-59991608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187354785	chr5:59991620-59991621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539329220	chr5:59991687-59991688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559241360	chr5:59991694-59991695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572625459	chr5:59991700-59991701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6896976	chr5:59991711-59991712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11750609	chr5:59991715-59991716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs573600651	chr5:59991757-59991758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113671013	chr5:59991815-59991816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373074292	chr5:59991859-59991860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192145860	chr5:59991871-59991872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562130913	chr5:59991922-59991923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370215227	chr5:59991923-59991924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551262440	chr5:59992008-59992009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181803565	chr5:59992029-59992030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs202207674	chr5:59992036-59992037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372336186	chr5:59992046-59992047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376519407	chr5:59992141-59992142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370991749	chr5:59992247-59992248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59969600-59994800	Weak transcription	Fetal Lung	lung
2	chr5:59971000-59993800	Weak transcription	NHLF	lung
3	chr5:59971000-59994000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:59971000-59994200	Weak transcription	NH-A	brain
5	chr5:59974200-59994200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:59974400-59993600	Weak transcription	Hela-S3	cervix
7	chr5:59977200-59991000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:59977200-59991200	Weak transcription	Pancreas	Pancrea
9	chr5:59977200-59994800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:59980200-59995200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:59981800-59994200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:59982400-59993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:59982600-59994800	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:59982800-59991000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:59982800-59992400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:59982800-59993800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:59982800-59994800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:59982800-59994800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:59983000-59990800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:59983000-59991000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:59983000-59991000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:59983000-59991200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:59983000-59992800	Weak transcription	NHEK	skin
24	chr5:59983000-59994000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:59983000-59994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:59983000-59994000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:59983000-59994200	Weak transcription	Thymus	Thymus
28	chr5:59983000-59994600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:59983000-59994800	Weak transcription	Fetal Thymus	thymus
30	chr5:59983000-59994800	Weak transcription	HSMM	muscle
31	chr5:59983200-59991000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:59983200-59993800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:59983200-59993800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:59983800-59991000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:59984200-59993000	Weak transcription	NHDF-Ad	bronchial
36	chr5:59984400-59991000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:59984400-59991200	Weak transcription	Dnd41	blood
38	chr5:59984600-59991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:59984600-59991200	Weak transcription	A549	lung
40	chr5:59984600-59993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:59984600-59994000	Weak transcription	Fetal Heart	heart
42	chr5:59984600-59994800	Weak transcription	Fetal Intestine Small	intestine
43	chr5:59985000-59991000	Weak transcription	K562	blood
44	chr5:59985200-59991200	Weak transcription	Placenta	Placenta
45	chr5:59986800-59992400	Weak transcription	HepG2	liver
46	chr5:59986800-59994000	Weak transcription	Osteobl	bone
47	chr5:59988600-59990800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:59990000-59990600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:59990000-59991400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:59990200-59990600	Strong transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links