Variant report

Variant	esv3343289
Chromosome Location	chr1:9598765-9601013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:9599103-9599386	HepG2	liver:	n/a	n/a
2	ATF1	chr1:9599196-9599622	K562	blood:	n/a	n/a
3	ATF2	chr1:9599023-9599571	H1-hESC	embryonic stem cell:	n/a	chr1:9599473-9599484
4	ATF2	chr1:9599206-9599630	GM12878	blood:	n/a	chr1:9599473-9599484
5	ATF3	chr1:9599283-9599591	GM12878	blood:	n/a	chr1:9599473-9599484 chr1:9599472-9599485 chr1:9599496-9599516 chr1:9599472-9599482 chr1:9599485-9599505 chr1:9599474-9599482 chr1:9599472-9599482 chr1:9599475-9599482 chr1:9599474-9599494 chr1:9599463-9599483 chr1:9599473-9599484 chr1:9599475-9599485 chr1:9599471-9599484 chr1:9599471-9599486 chr1:9599473-9599486 chr1:9599475-9599485 chr1:9599472-9599485 chr1:9599475-9599483 chr1:9599508-9599517
6	ATF3	chr1:9599342-9599682	H1-hESC	embryonic stem cell:	n/a	chr1:9599473-9599484 chr1:9599472-9599485 chr1:9599496-9599516 chr1:9599472-9599482 chr1:9599485-9599505 chr1:9599474-9599482 chr1:9599472-9599482 chr1:9599475-9599482 chr1:9599474-9599494 chr1:9599463-9599483 chr1:9599473-9599484 chr1:9599475-9599485 chr1:9599471-9599484 chr1:9599471-9599486 chr1:9599473-9599486 chr1:9599475-9599485 chr1:9599472-9599485 chr1:9599475-9599483 chr1:9599508-9599517
7	ATF3	chr1:9599276-9599638	K562	blood:	n/a	chr1:9599473-9599484 chr1:9599472-9599485 chr1:9599496-9599516 chr1:9599472-9599482 chr1:9599485-9599505 chr1:9599474-9599482 chr1:9599472-9599482 chr1:9599475-9599482 chr1:9599474-9599494 chr1:9599463-9599483 chr1:9599473-9599484 chr1:9599475-9599485 chr1:9599471-9599484 chr1:9599471-9599486 chr1:9599473-9599486 chr1:9599475-9599485 chr1:9599472-9599485 chr1:9599475-9599483 chr1:9599508-9599517
8	ATF3	chr1:9599387-9599626	GM12878	blood:	n/a	chr1:9599473-9599484 chr1:9599472-9599485 chr1:9599496-9599516 chr1:9599472-9599482 chr1:9599485-9599505 chr1:9599474-9599482 chr1:9599472-9599482 chr1:9599475-9599482 chr1:9599474-9599494 chr1:9599463-9599483 chr1:9599473-9599484 chr1:9599475-9599485 chr1:9599471-9599484 chr1:9599471-9599486 chr1:9599473-9599486 chr1:9599475-9599485 chr1:9599472-9599485 chr1:9599475-9599483 chr1:9599508-9599517
9	ATF3	chr1:9599351-9599611	HepG2	liver:	n/a	chr1:9599473-9599484 chr1:9599472-9599485 chr1:9599496-9599516 chr1:9599472-9599482 chr1:9599485-9599505 chr1:9599474-9599482 chr1:9599472-9599482 chr1:9599475-9599482 chr1:9599474-9599494 chr1:9599463-9599483 chr1:9599473-9599484 chr1:9599475-9599485 chr1:9599471-9599484 chr1:9599471-9599486 chr1:9599473-9599486 chr1:9599475-9599485 chr1:9599472-9599485 chr1:9599475-9599483 chr1:9599508-9599517
10	BACH1	chr1:9599134-9599634	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr1:9599352-9599606	A549	lung:	n/a	chr1:9599494-9599507
12	BHLHE40	chr1:9599369-9599564	HepG2	liver:	n/a	chr1:9599494-9599507
13	BHLHE40	chr1:9599271-9599670	HepG2	liver:	n/a	chr1:9599494-9599507
14	BHLHE40	chr1:9599222-9600293	GM12878	blood:	n/a	chr1:9599494-9599507
15	BHLHE40	chr1:9598963-9600458	K562	blood:	n/a	chr1:9599494-9599507
16	BHLHE40	chr1:9599112-9599719	HepG2	liver:	n/a	chr1:9599494-9599507
17	BRCA1	chr1:9599058-9599449	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr1:9599087-9599615	HepG2	liver:	n/a	n/a
19	BRCA1	chr1:9600075-9600403	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr1:9599087-9599547	GM12878	blood:	n/a	n/a
21	BRCA1	chr1:9599088-9599644	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr1:9598786-9599532	K562	blood:	n/a	n/a
23	CBX3	chr1:9599973-9600886	K562	blood:	n/a	n/a
24	CCNT2	chr1:9598904-9600430	K562	blood:	n/a	chr1:9600151-9600160 chr1:9600145-9600154
25	CEBPB	chr1:9599202-9599526	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr1:9599184-9599702	HepG2	liver:	n/a	n/a
27	CEBPB	chr1:9599252-9599494	A549	lung:	n/a	n/a
28	CEBPB	chr1:9599187-9599572	IMR90	lung:	n/a	n/a
29	CEBPB	chr1:9600297-9600523	K562	blood:	n/a	n/a
30	CEBPB	chr1:9599148-9599556	A549	lung:	n/a	n/a
31	CEBPB	chr1:9600211-9600310	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr1:9599024-9599549	K562	blood:	n/a	n/a
33	CEBPB	chr1:9599183-9599658	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:9599214-9599560	MCF-7	breast:	n/a	n/a
35	CEBPB	chr1:9599077-9599573	HepG2	liver:	n/a	n/a
36	CEBPB	chr1:9599172-9599569	K562	blood:	n/a	n/a
37	CEBPB	chr1:9599148-9599497	K562	blood:	n/a	n/a
38	CEBPB	chr1:9599189-9599561	A549	lung:	n/a	n/a
39	CEBPB	chr1:9599146-9599533	MCF-7	breast:	n/a	n/a
40	CEBPB	chr1:9600172-9600553	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr1:9599254-9599621	HepG2	liver:	n/a	n/a
42	CEBPB	chr1:9599193-9599517	ECC-1	luminal epithelium:	n/a	n/a
43	CEBPD	chr1:9599368-9599666	HepG2	liver:	n/a	n/a
44	CEBPD	chr1:9599208-9599656	HepG2	liver:	n/a	n/a
45	CEBPD	chr1:9598849-9599624	K562	blood:	n/a	n/a
46	CHD1	chr1:9599968-9600277	GM12878	blood:	n/a	n/a
47	CHD1	chr1:9600215-9600302	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr1:9600594-9600897	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr1:9598186-9599600	K562	blood:	n/a	chr1:9599449-9599459
50	CHD2	chr1:9598932-9599612	GM12878	blood:	n/a	chr1:9599449-9599459

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:9600115-9600165	MCF-7	breast:	n/a
2	chr1:9600115-9600165	MCF-7	breast:	n/a
3	chr1:9600345-9600395	HEK293	kidney:	embryo
4	chr1:9600345-9600395	ProgFib	skin:	n/a
5	chr1:9600443-9600493	SAEC	small airway:	n/a
6	chr1:9599380-9599430	HMEC	breast:	n/a
7	chr1:9600115-9600165	HCT-116	colon:	n/a
8	chr1:9599674-9599724	ECC-1	luminal epithelium:	n/a
9	chr1:9599276-9599326	RPTEC	kidney:	n/a
10	chr1:9599401-9599451	ProgFib	skin:	n/a
11	chr1:9600721-9600771	HIPEpiC	eye:	n/a
12	chr1:9599391-9599441	HEK293	kidney:	embryo
13	chr1:9599067-9599117	SK-N-SH_RA	brain:	n/a
14	chr1:9598932-9598982	CMK	blood:	n/a
15	chr1:9599391-9599441	HepG2	liver:	n/a
16	chr1:9599391-9599441	HMEC	breast:	n/a
17	chr1:9599391-9599441	HRPEpiC	eye:	n/a
18	chr1:9599026-9599076	ovcar-3	ovarian:	n/a
19	chr1:9599401-9599451	HAEpiC	amniotic membrane:	n/a
20	chr1:9599026-9599076	PANC-1	pancreas:	n/a
21	chr1:9599380-9599430	LNCaP	prostate:	n/a
22	chr1:9600721-9600771	ovcar-3	ovarian:	n/a
23	chr1:9599401-9599451	GM12892	blood:	n/a
24	chr1:9599401-9599451	HCF	heart:	n/a
25	chr1:9599419-9599469	HL-60	blood:	n/a
26	chr1:9599380-9599430	HRPEpiC	eye:	n/a
27	chr1:9599403-9599453	SK-N-MC	brain:	n/a
28	chr1:9599401-9599451	Caco-2	colon:	n/a
29	chr1:9598932-9598982	SK-N-SH_RA	brain:	n/a
30	chr1:9599391-9599441	IMR90	lung:	fetal
31	chr1:9599256-9599306	AG10803	skin:	n/a
32	chr1:9599391-9599441	H1-hESC	embryonic stem cell:	embryo
33	chr1:9599674-9599724	GM12878	blood:	n/a
34	chr1:9599380-9599430	HUVEC	blood vessel:	n/a
35	chr1:9599419-9599469	HUVEC	blood vessel:	n/a
36	chr1:9599256-9599306	Jurkat	blood:	n/a
37	chr1:9599067-9599117	HCPEpiC	choroid plexus:	n/a
38	chr1:9599674-9599724	SK-N-MC	brain:	n/a
39	chr1:9600345-9600395	GM12878	blood:	n/a
40	chr1:9599380-9599430	GM12878	blood:	n/a
41	chr1:9599674-9599724	HNPCEpiC	eye:	n/a
42	chr1:9599026-9599076	HRPEpiC	eye:	n/a
43	chr1:9600345-9600395	HRE	kidney:	n/a
44	chr1:9599403-9599453	Caco-2	colon:	n/a
45	chr1:9600345-9600395	K562	blood:	n/a
46	chr1:9599067-9599117	NHBE	bronchial:	n/a
47	chr1:9600115-9600165	HMEC	breast:	n/a
48	chr1:9599276-9599326	MCF-7	breast:	n/a
49	chr1:9599380-9599430	AG10803	skin:	n/a
50	chr1:9599674-9599724	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:9294638..9296253-chr1:9598479..9600330,2	K562	blood:
2	chr1:9597398..9600888-chr1:9600968..9602774,3	MCF-7	breast:
3	chr1:9599563..9600515-chr15:65588090..65588719,2	Hela-S3	cervix:
4	chr1:9597734..9599433-chr1:9617661..9619736,2	K562	blood:
5	chr1:9599545..9601173-chr1:9607657..9610579,2	MCF-7	breast:
6	chr1:9599233..9600127-chr6:111279644..111280229,2	Hela-S3	cervix:
7	chr1:9350586..9353918-chr1:9597167..9600975,3	MCF-7	breast:
8	chr1:9599460..9600393-chr11:92930413..92931236,2	NB4	blood:
9	chr1:9599360..9599951-chr2:43453657..43454519,2	NB4	blood:
10	chr1:9586876..9589181-chr1:9596662..9599409,2	K562	blood:
11	chr1:9597937..9599836-chr1:9648693..9652829,4	K562	blood:
12	chr1:9599401..9600258-chr2:55277246..55277773,2	Hela-S3	cervix:
13	chr1:9587010..9589066-chr1:9600375..9602701,2	K562	blood:
14	chr1:9599090..9600004-chr11:94964653..94965231,2	NB4	blood:
15	chr1:9599309..9599945-chr20:48599375..48600280,2	Hela-S3	cervix:
16	chr1:9597781..9602686-chr1:9646599..9652829,9	K562	blood:
17	chr1:9600243..9601816-chr1:9629170..9632084,2	K562	blood:
18	chr1:9599430..9599966-chr2:162164733..162165342,2	Hela-S3	cervix:
19	chr1:9600120..9603287-chr1:9652178..9655376,3	K562	blood:

Variant related genes	Relation type
SLC25A33	TF binding region
SLC25A33	CpG island
ENSG00000124216	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000155115	chromatin interactions
ENSG00000245552	chromatin interactions
ENSG00000180773	chromatin interactions
ENSG00000171612	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000049239	chromatin interactions
ENSG00000188807	chromatin interactions
ENSG00000171621	chromatin interactions
ENSG00000115233	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571860163	chr1:9598814-9598815	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs568952241	chr1:9598830-9598831	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs181041436	chr1:9598877-9598878	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs529082109	chr1:9598914-9598915	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs538075663	chr1:9598943-9598944	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs111714926	chr1:9598974-9598975	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs55655211	chr1:9598991-9598992	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554882642	chr1:9599027-9599028	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs536491286	chr1:9599078-9599079	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs113589383	chr1:9599119-9599120	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs537210146	chr1:9599150-9599151	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs558577771	chr1:9599165-9599166	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs74051540	chr1:9599179-9599180	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35599758	chr1:9599198-9599199	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs71643059	chr1:9599250-9599251	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs545435576	chr1:9599267-9599268	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs183619687	chr1:9599272-9599273	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs572602831	chr1:9599278-9599279	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs543143457	chr1:9599306-9599307	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs561507962	chr1:9599317-9599318	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs531812864	chr1:9599320-9599321	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs543965432	chr1:9599336-9599337	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs565452737	chr1:9599364-9599365	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs532822862	chr1:9599380-9599381	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs113619091	chr1:9599382-9599383	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs565331682	chr1:9599386-9599387	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs529779672	chr1:9599404-9599405	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs76593623	chr1:9599432-9599433	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs569686378	chr1:9599449-9599450	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs35747407	chr1:9599461-9599462	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs536872644	chr1:9599474-9599475	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs372304575	chr1:9599488-9599489	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs558684687	chr1:9599608-9599609	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs570691005	chr1:9599645-9599646	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs112358601	chr1:9599648-9599649	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs554258511	chr1:9599686-9599687	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs12402458	chr1:9599795-9599796	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs576870703	chr1:9599808-9599809	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs148840119	chr1:9599823-9599824	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs562492476	chr1:9599855-9599856	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs189445608	chr1:9599870-9599871	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs576446258	chr1:9599906-9599907	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs543687958	chr1:9599907-9599908	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs565454123	chr1:9599916-9599917	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs532712458	chr1:9600007-9600008	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs114666273	chr1:9600052-9600053	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs181836000	chr1:9600146-9600147	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs59618231	chr1:9600204-9600205	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370552690	chr1:9600210-9600211	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs547754875	chr1:9600232-9600233	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	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
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	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
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9555800-9599400	Weak transcription	Right Atrium	heart
2	chr1:9591600-9599000	Weak transcription	Adipose Nuclei	Adipose
3	chr1:9591600-9599400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:9593200-9599000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:9593400-9598800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:9593400-9598800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:9593400-9598800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:9593600-9598800	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:9593600-9599000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:9593600-9599000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:9593600-9599600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:9593800-9599000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:9594400-9599400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:9594600-9599000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:9596200-9599400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:9597200-9599200	Enhancers	Stomach Mucosa	stomach
17	chr1:9597800-9598800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:9597800-9598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:9597800-9599200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:9597800-9599200	Flanking Active TSS	HepG2	liver
21	chr1:9597800-9599400	Enhancers	HMEC	breast
22	chr1:9597800-9599600	Enhancers	GM12878-XiMat	blood
23	chr1:9598000-9599000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:9598000-9599000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:9598000-9599000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:9598000-9599000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:9598000-9599000	Enhancers	Thymus	Thymus
28	chr1:9598000-9599000	Enhancers	Dnd41	blood
29	chr1:9598000-9599000	Enhancers	NHEK	skin
30	chr1:9598000-9599200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:9598000-9599400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:9598000-9599400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:9598000-9599400	Enhancers	Brain Substantia Nigra	brain
34	chr1:9598000-9599400	Enhancers	Esophagus	oesophagus
35	chr1:9598000-9599400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:9598200-9598800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr1:9598200-9598800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:9598200-9598800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:9598200-9599000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:9598200-9599000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr1:9598200-9599000	Enhancers	Brain Germinal Matrix	brain
42	chr1:9598200-9599000	Enhancers	Hela-S3	cervix
43	chr1:9598200-9599200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr1:9598200-9599200	Enhancers	Primary T cells from cord blood	blood
45	chr1:9598200-9599200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:9598200-9599200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:9598200-9599200	Enhancers	Spleen	Spleen
48	chr1:9598200-9599400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:9598200-9599400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:9598200-9599400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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