Variant report

Variant	nsv546701
Chromosome Location	chr1:85662851-85667386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:571)
CpG islands
(count:734)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:85666651-85666847	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:85664678-85664931	K562	blood:	n/a	n/a
3	ATF2	chr1:85666959-85667677	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:85667272-85667840	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:85666008-85666112	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr1:85666301-85666915	GM12878	blood:	n/a	chr1:85666767-85666780 chr1:85666802-85666811 chr1:85666748-85666757
7	BHLHE40	chr1:85666683-85667794	HepG2	liver:	n/a	chr1:85667358-85667374 chr1:85667142-85667158 chr1:85667177-85667193 chr1:85667163-85667179 chr1:85667107-85667120 chr1:85667171-85667187 chr1:85666769-85666785
8	BHLHE40	chr1:85666906-85667278	GM12878	blood:	n/a	chr1:85667142-85667158 chr1:85667177-85667193 chr1:85667163-85667179 chr1:85667107-85667120 chr1:85667171-85667187
9	BHLHE40	chr1:85666096-85667957	K562	blood:	n/a	chr1:85667358-85667374 chr1:85667142-85667158 chr1:85667177-85667193 chr1:85667163-85667179 chr1:85667107-85667120 chr1:85667171-85667187 chr1:85666769-85666785
10	BRCA1	chr1:85665981-85666181	GM12878	blood:	n/a	n/a
11	BRCA1	chr1:85666679-85667166	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr1:85666284-85666990	K562	blood:	n/a	n/a
13	CBX3	chr1:85665803-85666281	K562	blood:	n/a	n/a
14	CCNT2	chr1:85665858-85667849	K562	blood:	n/a	n/a
15	CEBPB	chr1:85667329-85667653	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr1:85666651-85666892	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:85666599-85666869	K562	blood:	n/a	n/a
18	CEBPB	chr1:85667235-85668507	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr1:85667275-85667610	HepG2	liver:	n/a	n/a
20	CEBPD	chr1:85666589-85667069	K562	blood:	n/a	n/a
21	CEBPD	chr1:85666469-85667004	HepG2	liver:	n/a	n/a
22	CHD1	chr1:85666229-85666647	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr1:85666994-85668342	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr1:85666705-85666857	HepG2	liver:	n/a	n/a
25	CHD2	chr1:85667275-85667528	HepG2	liver:	n/a	n/a
26	CHD2	chr1:85667229-85667929	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr1:85666028-85667837	K562	blood:	n/a	n/a
28	CHD2	chr1:85667220-85667403	GM12878	blood:	n/a	n/a
29	CHD2	chr1:85666612-85666944	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr1:85666228-85667831	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr1:85666107-85666147	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr1:85666564-85667071	A549	lung:	n/a	n/a
33	CREB1	chr1:85666067-85667848	HepG2	liver:	n/a	n/a
34	CREB1	chr1:85666551-85667296	GM12878	blood:	n/a	n/a
35	CREB1	chr1:85666458-85667346	K562	blood:	n/a	n/a
36	CREB1	chr1:85665782-85666337	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTBP2	chr1:85665918-85667824	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr1:85666680-85666830	GM12873	blood:	n/a	chr1:85666765-85666778 chr1:85666755-85666768
39	CTCF	chr1:85667140-85667290	GM12875	blood:	n/a	n/a
40	CTCF	chr1:85667100-85667250	GM12873	blood:	n/a	n/a
41	CTCF	chr1:85667280-85667430	GM12878	blood:	n/a	chr1:85667300-85667309
42	CTCF	chr1:85667188-85667381	IMR90	lung:	n/a	chr1:85667300-85667309
43	CTCF	chr1:85667160-85667310	GM12865	blood:	n/a	chr1:85667300-85667309
44	CTCF	chr1:85666660-85666810	GM12875	blood:	n/a	chr1:85666765-85666778 chr1:85666755-85666768
45	CTCF	chr1:85665800-85665950	GM12874	blood:	n/a	n/a
46	CTCF	chr1:85667073-85667439	K562	blood:	n/a	chr1:85667300-85667309
47	CTCF	chr1:85667220-85667370	HCPEpiC	choroid plexus:	n/a	chr1:85667300-85667309
48	CTCF	chr1:85666400-85666401	Fibrobl	skin:	n/a	n/a
49	CTCF	chr1:85667320-85667470	SAEC	small airway:	n/a	n/a
50	CTCF	chr1:85667140-85667290	HCM	heart:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:85666874-85666924	ovcar-3	ovarian:	n/a
2	chr1:85666741-85666791	Caco-2	colon:	n/a
3	chr1:85666874-85666924	ovcar-3	ovarian:	n/a
4	chr1:85666741-85666791	Caco-2	colon:	n/a
5	chr1:85663719-85663769	HNPCEpiC	eye:	n/a
6	chr1:85666673-85666723	SK-N-SH	brain:	n/a
7	chr1:85666970-85667020	SK-N-MC	brain:	n/a
8	chr1:85665444-85665494	BE2_C	brain:	n/a
9	chr1:85666708-85666758	HEEpiC	esophagus:	n/a
10	chr1:85666741-85666791	A549	lung:	n/a
11	chr1:85666673-85666723	PrEC	prostate:	n/a
12	chr1:85665902-85665952	HRCEpiC	kidney:	n/a
13	chr1:85666970-85667020	Jurkat	blood:	n/a
14	chr1:85663719-85663769	HIPEpiC	eye:	n/a
15	chr1:85666874-85666924	Caco-2	colon:	n/a
16	chr1:85666673-85666723	HCPEpiC	choroid plexus:	n/a
17	chr1:85666673-85666723	NH-A	brain:	n/a
18	chr1:85666970-85667020	HCPEpiC	choroid plexus:	n/a
19	chr1:85665902-85665952	GM12891	blood:	n/a
20	chr1:85666741-85666791	HEK293	kidney:	embryo
21	chr1:85666720-85666770	AoSMC	blood vessel:	n/a
22	chr1:85666673-85666723	RPTEC	kidney:	n/a
23	chr1:85663719-85663769	NB4	blood:	n/a
24	chr1:85663719-85663769	HEK293	kidney:	embryo
25	chr1:85665444-85665494	AG10803	skin:	n/a
26	chr1:85665444-85665494	SAEC	small airway:	n/a
27	chr1:85666708-85666758	PFSK-1	brain:	n/a
28	chr1:85665902-85665952	HCT-116	colon:	n/a
29	chr1:85666741-85666791	U87	brain:	n/a
30	chr1:85666741-85666791	ECC-1	luminal epithelium:	n/a
31	chr1:85666720-85666770	BE2_C	brain:	n/a
32	chr1:85665444-85665494	HAEpiC	amniotic membrane:	n/a
33	chr1:85666708-85666758	HUVEC	blood vessel:	n/a
34	chr1:85666741-85666791	BJ	skin:	n/a
35	chr1:85666720-85666770	NT2-D1	testis:	n/a
36	chr1:85667233-85667283	ProgFib	skin:	n/a
37	chr1:85666159-85666209	Hepatocyte	liver:	n/a
38	chr1:85666708-85666758	BJ	skin:	n/a
39	chr1:85666970-85667020	U87	brain:	n/a
40	chr1:85666720-85666770	Hepatocyte	liver:	n/a
41	chr1:85666970-85667020	HMEC	breast:	n/a
42	chr1:85665444-85665494	MCF-7	breast:	n/a
43	chr1:85666720-85666770	PrEC	prostate:	n/a
44	chr1:85666970-85667020	LNCaP	prostate:	n/a
45	chr1:85665902-85665952	MCF-7	breast:	n/a
46	chr1:85666159-85666209	HCT-116	colon:	n/a
47	chr1:85666673-85666723	HIPEpiC	eye:	n/a
48	chr1:85666720-85666770	SK-N-SH_RA	brain:	n/a
49	chr1:85665444-85665494	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:85666159-85666209	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:85624154..85626625-chr1:85666842..85668443,2	MCF-7	breast:
2	chr1:85597874..85599552-chr1:85665218..85666801,2	MCF-7	breast:
3	chr1:85660381..85662955-chr1:85716611..85718297,2	K562	blood:
4	chr1:85666179..85667836-chr1:85723614..85725791,2	K562	blood:
5	chr1:85658898..85664597-chr1:85664894..85668250,7	MCF-7	breast:
6	chr1:85663638..85666684-chr1:85666937..85669926,3	MCF-7	breast:
7	chr1:85641812..85644016-chr1:85661347..85664205,2	K562	blood:
8	chr1:85665831..85667640-chr1:86041122..86042846,2	MCF-7	breast:
9	chr1:85666758..85667459-chr11:107879642..107880312,2	NB4	blood:
10	chr1:85665227..85667257-chr1:85740935..85743875,2	K562	blood:
11	chr1:85665631..85669772-chr1:85739485..85744059,5	K562	blood:
12	chr1:85664620..85668785-chr1:85722586..85726821,6	MCF-7	breast:
13	chr1:85666785..85669663-chr1:85715100..85717431,2	K562	blood:
14	chr1:85653773..85655948-chr1:85662257..85664650,2	MCF-7	breast:
15	chr1:85666946..85668694-chr1:85686380..85689036,2	K562	blood:
16	chr1:85665913..85668656-chr1:85741362..85743092,3	MCF-7	breast:
17	chr1:85660899..85662912-chr1:86045569..86048259,2	K562	blood:

No data

Variant related genes	Relation type
SYDE2	TF binding region
SYDE2	CpG island
ENSG00000142867	chromatin interactions
ENSG00000266110	chromatin interactions
ENSG00000097096	chromatin interactions
ENSG00000162642	chromatin interactions
ENSG00000142871	chromatin interactions
ENSG00000166266	chromatin interactions
ENSG00000223653	chromatin interactions
ENSG00000153904	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4907139	chr1:85662851-85662852	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6664273	chr1:85662914-85662915	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs578011466	chr1:85663018-85663019	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543913713	chr1:85663039-85663040	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557154850	chr1:85663042-85663043	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548603834	chr1:85663085-85663086	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576375817	chr1:85663090-85663091	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573886795	chr1:85663157-85663158	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545374419	chr1:85663266-85663267	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550955048	chr1:85663273-85663274	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192059379	chr1:85663356-85663357	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565289523	chr1:85663390-85663391	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184003764	chr1:85663399-85663400	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528421381	chr1:85663400-85663401	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185931704	chr1:85663456-85663457	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4243776	chr1:85663460-85663461	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs111338620	chr1:85663463-85663464	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371966461	chr1:85663465-85663466	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550263971	chr1:85663499-85663500	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190394573	chr1:85663506-85663507	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs6664025	chr1:85663511-85663512	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371676931	chr1:85663562-85663563	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs34880309	chr1:85663596-85663597	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549197667	chr1:85663622-85663623	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566217221	chr1:85663632-85663633	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12075407	chr1:85663698-85663699	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4907140	chr1:85663699-85663700	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs568904260	chr1:85663721-85663722	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537554468	chr1:85663802-85663803	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550924853	chr1:85663814-85663815	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182537792	chr1:85663834-85663835	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs55806921	chr1:85663891-85663892	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574226105	chr1:85663895-85663896	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375788869	chr1:85663905-85663906	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534196670	chr1:85663939-85663940	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554197824	chr1:85664002-85664003	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542828927	chr1:85664011-85664012	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147062603	chr1:85664014-85664015	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534686853	chr1:85664045-85664046	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573026749	chr1:85664061-85664062	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186862375	chr1:85664097-85664098	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192894187	chr1:85664239-85664240	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs377402071	chr1:85664273-85664274	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201121142	chr1:85664276-85664277	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182753465	chr1:85664290-85664291	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531336492	chr1:85664327-85664328	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369774069	chr1:85664339-85664340	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543844576	chr1:85664369-85664370	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34263855	chr1:85664491-85664492	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs397722226	chr1:85664498-85664499	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
2	chr1:85627400-85663000	Weak transcription	NHEK	skin
3	chr1:85627800-85664400	Weak transcription	Osteobl	bone
4	chr1:85639000-85665400	Weak transcription	Placenta	Placenta
5	chr1:85644200-85664400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:85645800-85663800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:85646000-85664800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:85646200-85663600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:85646600-85665200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:85646800-85663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:85647200-85664400	Weak transcription	Fetal Kidney	kidney
12	chr1:85648400-85665200	Weak transcription	Ovary	ovary
13	chr1:85648400-85665200	Weak transcription	HSMM	muscle
14	chr1:85648800-85664600	Weak transcription	NH-A	brain
15	chr1:85649200-85665800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:85653600-85664200	Weak transcription	HMEC	breast
17	chr1:85654000-85664800	Weak transcription	HUVEC	blood vessel
18	chr1:85654000-85665600	Weak transcription	Brain Anterior Caudate	brain
19	chr1:85654400-85665600	Weak transcription	Brain Substantia Nigra	brain
20	chr1:85654400-85665800	Weak transcription	Gastric	stomach
21	chr1:85654400-85665800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:85654800-85664600	Weak transcription	Colonic Mucosa	Colon
23	chr1:85654800-85665600	Weak transcription	Pancreas	Pancrea
24	chr1:85656000-85664000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:85656000-85664600	Weak transcription	Fetal Stomach	stomach
26	chr1:85656000-85664600	Weak transcription	NHLF	lung
27	chr1:85656000-85665600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:85656200-85663600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:85656200-85663800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:85656200-85663800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:85656200-85663800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:85656200-85664200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:85656200-85664600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:85656200-85664600	Weak transcription	Fetal Intestine Small	intestine
35	chr1:85656200-85665800	Weak transcription	Lung	lung
36	chr1:85656400-85663400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:85656400-85663600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:85656400-85663600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:85656400-85663600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:85656400-85663600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:85656400-85663800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:85656400-85663800	Weak transcription	Fetal Lung	lung
43	chr1:85656400-85664600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:85656400-85665200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:85656400-85665400	Weak transcription	HSMMtube	muscle
46	chr1:85656400-85665600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:85659400-85663600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:85659600-85663800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:85661000-85669000	Active TSS	Stomach Smooth Muscle	stomach
50	chr1:85661200-85664400	Enhancers	Liver	Liver

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