Variant report

Variant	nsv598652
Chromosome Location	chr5:73980182-73992881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:679)
CpG islands
(count:795)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:679 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr5:73980800-73981118	HepG2	liver:	n/a	chr5:73980955-73980964 chr5:73980961-73980970
2	ATF3	chr5:73980780-73981156	H1-hESC	embryonic stem cell:	n/a	chr5:73980955-73980964 chr5:73980961-73980970
3	ATF3	chr5:73980781-73981201	K562	blood:	n/a	chr5:73980955-73980964 chr5:73980961-73980970
4	BATF	chr5:73980897-73981260	GM12878	blood:	n/a	n/a
5	BCLAF1	chr5:73980865-73981250	GM12878	blood:	n/a	n/a
6	BCLAF1	chr5:73980913-73981424	GM12878	blood:	n/a	n/a
7	BHLHE40	chr5:73980819-73981379	K562	blood:	n/a	chr5:73980946-73980962
8	BHLHE40	chr5:73982846-73983259	K562	blood:	n/a	n/a
9	BHLHE40	chr5:73980853-73981253	GM12878	blood:	n/a	chr5:73980946-73980962
10	BHLHE40	chr5:73981722-73982264	GM12878	blood:	n/a	n/a
11	BHLHE40	chr5:73981697-73982410	K562	blood:	n/a	n/a
12	BRCA1	chr5:73981387-73981398	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr5:73980906-73981364	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr5:73981375-73981542	GM12878	blood:	n/a	n/a
15	CBX3	chr5:73980671-73981062	K562	blood:	n/a	n/a
16	CCNT2	chr5:73980667-73982233	K562	blood:	n/a	chr5:73981418-73981427
17	CEBPB	chr5:73980802-73981234	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr5:73981635-73982172	K562	blood:	n/a	chr5:73982105-73982113
19	CEBPB	chr5:73986792-73987021	IMR90	lung:	n/a	n/a
20	CEBPB	chr5:73981809-73982139	IMR90	lung:	n/a	chr5:73982105-73982113
21	CEBPB	chr5:73981793-73982160	K562	blood:	n/a	chr5:73982105-73982113
22	CEBPB	chr5:73981819-73982071	K562	blood:	n/a	n/a
23	CEBPD	chr5:73980846-73981256	HepG2	liver:	n/a	n/a
24	CHD1	chr5:73981072-73981285	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr5:73980681-73982849	IMR90	lung:	n/a	n/a
26	CHD1	chr5:73980924-73981336	GM12878	blood:	n/a	n/a
27	CHD2	chr5:73981483-73981565	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr5:73981971-73982281	GM12878	blood:	n/a	n/a
29	CHD2	chr5:73980918-73981213	HepG2	liver:	n/a	n/a
30	CHD2	chr5:73980826-73981491	K562	blood:	n/a	n/a
31	CHD2	chr5:73980920-73981612	GM12878	blood:	n/a	n/a
32	CHD2	chr5:73980782-73981765	Hela-S3	cervix:	n/a	n/a
33	CREB1	chr5:73980752-73981394	GM12878	blood:	n/a	n/a
34	CREB1	chr5:73980675-73981397	A549	lung:	n/a	n/a
35	CREB1	chr5:73980761-73981390	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr5:73980712-73981422	HepG2	liver:	n/a	n/a
37	CTCF	chr5:73981066-73981262	GM19239	blood:	n/a	n/a
38	CTCF	chr5:73981120-73981253	GM13977	blood:	n/a	n/a
39	CTCF	chr5:73981280-73981430	GM12864	blood:	n/a	n/a
40	CTCF	chr5:73981040-73981190	AG04449	skin:	n/a	n/a
41	CTCF	chr5:73981020-73981170	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr5:73980780-73980930	HCFaa	heart:	n/a	chr5:73980878-73980887
43	CTCF	chr5:73982002-73982104	K562	blood:	n/a	n/a
44	CTCF	chr5:73981280-73981430	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr5:73980700-73980850	A549	lung:	n/a	n/a
46	CTCF	chr5:73981066-73981283	GM19238	blood:	n/a	n/a
47	CTCF	chr5:73980688-73981114	K562	blood:	n/a	chr5:73980878-73980887
48	CTCF	chr5:73988238-73988279	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:73980780-73980930	AG04450	lung:	n/a	chr5:73980878-73980887
50	CTCF	chr5:73981101-73981270	MCF-7	breast:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:73980437-73980487	LNCaP	prostate:	n/a
2	chr5:73980935-73980985	HNPCEpiC	eye:	n/a
3	chr5:73980437-73980487	LNCaP	prostate:	n/a
4	chr5:73980935-73980985	HNPCEpiC	eye:	n/a
5	chr5:73980968-73981018	AG04449	skin:	fetal
6	chr5:73980437-73980487	BJ	skin:	n/a
7	chr5:73983704-73983754	MCF-7	breast:	n/a
8	chr5:73980929-73980979	T-47D	breast:	n/a
9	chr5:73983704-73983754	GM12892	blood:	n/a
10	chr5:73981306-73981356	CMK	blood:	n/a
11	chr5:73980834-73980884	CMK	blood:	n/a
12	chr5:73981611-73981661	NB4	blood:	n/a
13	chr5:73980968-73981018	HRCEpiC	kidney:	n/a
14	chr5:73980834-73980884	SAEC	small airway:	n/a
15	chr5:73980968-73981018	HEEpiC	esophagus:	n/a
16	chr5:73981186-73981236	MCF-7	breast:	n/a
17	chr5:73981306-73981356	PANC-1	pancreas:	n/a
18	chr5:73980966-73981016	Hepatocyte	liver:	n/a
19	chr5:73980935-73980985	PANC-1	pancreas:	n/a
20	chr5:73983704-73983754	BJ	skin:	n/a
21	chr5:73980834-73980884	HRE	kidney:	n/a
22	chr5:73983704-73983754	LNCaP	prostate:	n/a
23	chr5:73980968-73981018	NB4	blood:	n/a
24	chr5:73980968-73981018	Hepatocyte	liver:	n/a
25	chr5:73980968-73981018	NHBE	bronchial:	n/a
26	chr5:73981490-73981540	NH-A	brain:	n/a
27	chr5:73980968-73981018	PrEC	prostate:	n/a
28	chr5:73980914-73980964	HNPCEpiC	eye:	n/a
29	chr5:73981490-73981540	HEEpiC	esophagus:	n/a
30	chr5:73983704-73983754	PrEC	prostate:	n/a
31	chr5:73980968-73981018	HCPEpiC	choroid plexus:	n/a
32	chr5:73980968-73981018	Hela-S3	cervix:	n/a
33	chr5:73980914-73980964	A549	lung:	n/a
34	chr5:73981186-73981236	GM19239	blood:	n/a
35	chr5:73981306-73981356	ProgFib	skin:	n/a
36	chr5:73980935-73980985	T-47D	breast:	n/a
37	chr5:73980966-73981016	HRE	kidney:	n/a
38	chr5:73980834-73980884	Jurkat	blood:	n/a
39	chr5:73981306-73981356	HCPEpiC	choroid plexus:	n/a
40	chr5:73980437-73980487	T-47D	breast:	n/a
41	chr5:73981611-73981661	GM19239	blood:	n/a
42	chr5:73980914-73980964	Hepatocyte	liver:	n/a
43	chr5:73980437-73980487	Hepatocyte	liver:	n/a
44	chr5:73980966-73981016	ProgFib	skin:	n/a
45	chr5:73980929-73980979	HCT-116	colon:	n/a
46	chr5:73980968-73981018	MCF10A-Er-Src	breast:	n/a
47	chr5:73980929-73980979	HIPEpiC	eye:	n/a
48	chr5:73983704-73983754	NB4	blood:	n/a
49	chr5:73980935-73980985	HRPEpiC	eye:	n/a
50	chr5:73980966-73981016	ECC-1	luminal epithelium:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:73979598..73982392-chr5:73983812..73990818,9	MCF-7	breast:
2	chr5:73980953..73983731-chr5:74012002..74014571,3	MCF-7	breast:
3	chr5:73981324..73983563-chr5:74077397..74079724,2	K562	blood:
4	chr5:73980885..73983030-chr5:74062980..74064496,2	MCF-7	breast:
5	chr5:73981661..73984902-chr5:74226605..74228461,3	K562	blood:
6	chr19:39926302..39926892-chr5:73980939..73981515,2	Hela-S3	cervix:
7	chr5:73980002..73981869-chr5:74633426..74635131,2	K562	blood:
8	chr5:72857771..72859719-chr5:73979974..73981658,2	K562	blood:
9	chr5:73983027..73985005-chr5:74061405..74062936,2	K562	blood:
10	chr5:73979598..73982392-chr5:73983812..73990818,9	MCF-7	breast:
11	chr5:73983818..73985346-chr5:74157692..74159898,2	MCF-7	breast:
12	chr5:73981038..73983852-chr5:73999852..74002635,2	MCF-7	breast:
13	chr5:73979647..73982006-chr5:74061742..74064417,2	K562	blood:
14	chr5:73978938..73982006-chr5:74061565..74064417,3	K562	blood:
15	chr5:73979909..73982593-chr5:73987219..73990536,5	MCF-7	breast:
16	chr5:73979909..73982593-chr5:73987219..73990536,5	MCF-7	breast:
17	chr5:73969331..73972056-chr5:73981357..73983781,2	MCF-7	breast:
18	chr5:73983424..73985241-chr5:73988547..73990421,2	MCF-7	breast:
19	chr5:73979743..73983565-chr5:73984545..73990071,12	K562	blood:
20	chr5:73986659..73988888-chr5:73994649..73997081,2	MCF-7	breast:
21	chr5:73979743..73983565-chr5:73984545..73990071,12	K562	blood:

No data

Variant related genes	Relation type
HEXB	TF binding region
HEXB	CpG island
ENSG00000105193	chromatin interactions
ENSG00000164347	chromatin interactions
ENSG00000113161	chromatin interactions
ENSG00000164346	chromatin interactions
ENSG00000049860	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000239517	chromatin interactions
ENSG00000164331	chromatin interactions

Extended variants
information (count: 441 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16872198	chr5:73980182-73980183	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs820871	chr5:73980197-73980198	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs820872	chr5:73980214-73980215	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs542946348	chr5:73980216-73980217	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs561223541	chr5:73980268-73980269	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs146282424	chr5:73980300-73980301	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs186346850	chr5:73980321-73980322	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs565292395	chr5:73980391-73980392	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs375454819	chr5:73980446-73980447	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs200054372	chr5:73980501-73980502	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs202186582	chr5:73980502-73980503	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs820873	chr5:73980503-73980504	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs16872201	chr5:73980504-73980505	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs371272873	chr5:73980505-73980506	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs374798280	chr5:73980507-73980508	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs75161369	chr5:73980521-73980522	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs532640164	chr5:73980589-73980590	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs368008166	chr5:73980596-73980597	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs820874	chr5:73980621-73980622	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs62368216	chr5:73980646-73980647	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs530103537	chr5:73980662-73980663	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs548534277	chr5:73980663-73980664	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs530663200	chr5:73980690-73980691	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs566757482	chr5:73980691-73980692	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs200370906	chr5:73980702-73980703	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs386689101	chr5:73980703-73980704	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs2593642	chr5:73980704-73980705	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs376339146	chr5:73980739-73980740	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs537562961	chr5:73980797-73980798	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs2936918	chr5:73980799-73980800	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574122532	chr5:73980811-73980812	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs373388258	chr5:73980821-73980822	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs554881159	chr5:73980844-73980845	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs573489086	chr5:73980866-73980867	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs73117116	chr5:73980911-73980912	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112873019	chr5:73980916-73980917	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs565498779	chr5:73980937-73980938	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs201908786	chr5:73980960-73980961	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs70976124	chr5:73980964-73980965	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs544753199	chr5:73980974-73980975	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs562951186	chr5:73981001-73981002	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs529245734	chr5:73981029-73981030	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs549396104	chr5:73981067-73981068	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs113440205	chr5:73981077-73981078	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs548595045	chr5:73981089-73981090	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs560247245	chr5:73981090-73981091	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs398123443	chr5:73981200-73981201	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs11556043	chr5:73981239-73981240	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs62368217	chr5:73981250-73981251	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs368384256	chr5:73981252-73981253	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	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
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Sandhoff disease	22848519	CNVD

Chromatin state (count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73966800-73980200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:73966800-73980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:73969800-73980600	Weak transcription	HMEC	breast
4	chr5:73969800-73980600	Weak transcription	HSMM	muscle
5	chr5:73969800-73980800	Weak transcription	NHLF	lung
6	chr5:73971800-73980200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:73973800-73980600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:73975200-73980200	Weak transcription	Spleen	Spleen
9	chr5:73976000-73980600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:73976200-73980200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:73976200-73980600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:73976200-73980600	Weak transcription	Osteobl	bone
13	chr5:73976200-73981000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:73976400-73980200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:73976400-73980200	Weak transcription	Hela-S3	cervix
16	chr5:73976800-73980600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:73977400-73980800	Weak transcription	HSMMtube	muscle
18	chr5:73978400-73980600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:73978400-73980600	Enhancers	Fetal Intestine Large	intestine
20	chr5:73978600-73980600	Enhancers	Fetal Intestine Small	intestine
21	chr5:73979000-73980200	Weak transcription	A549	lung
22	chr5:73979000-73980800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:73979000-73980800	Weak transcription	NH-A	brain
24	chr5:73979200-73980600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:73979200-73980600	Weak transcription	NHEK	skin
26	chr5:73979200-73980800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:73979400-73980600	Enhancers	Placenta	Placenta
28	chr5:73980000-73980400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:73980000-73980400	Bivalent Enhancer	HepG2	liver
30	chr5:73980000-73980400	Enhancers	K562	blood
31	chr5:73980000-73980600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr5:73980000-73981600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr5:73980200-73980400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr5:73980200-73980400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:73980200-73980400	Enhancers	Gastric	stomach
36	chr5:73980200-73980400	Enhancers	Spleen	Spleen
37	chr5:73980200-73980400	Flanking Active TSS	A549	lung
38	chr5:73980200-73980600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:73980200-73980600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr5:73980200-73980600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:73980200-73980600	Enhancers	Primary B cells from peripheral blood	blood
42	chr5:73980200-73980600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:73980200-73980600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr5:73980200-73980600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr5:73980200-73980600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:73980200-73980600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:73980200-73980600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:73980200-73980600	Enhancers	Adipose Nuclei	Adipose
49	chr5:73980200-73980600	Enhancers	Dnd41	blood
50	chr5:73980200-73980600	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links