Variant report

Variant	nsv970369
Chromosome Location	chr6:4481968-4554947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:301)
CpG islands
(count:244)
Chromatin interactive
region (count:47)
LncRNA
region (count:69)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr6:4487812-4488213	HCT-116	colon:	n/a	n/a
2	BACH1	chr6:4487858-4488185	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr6:4553598-4554007	GM12878	blood:	n/a	n/a
4	BATF	chr6:4553568-4554032	GM12878	blood:	n/a	n/a
5	BCL11A	chr6:4503979-4504320	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr6:4518717-4519183	A549	lung:	n/a	chr6:4518922-4518931
7	BHLHE40	chr6:4516484-4516722	K562	blood:	n/a	n/a
8	BHLHE40	chr6:4487893-4488073	K562	blood:	n/a	n/a
9	BHLHE40	chr6:4518854-4519042	GM12878	blood:	n/a	n/a
10	BHLHE40	chr6:4487891-4488080	HepG2	liver:	n/a	n/a
11	CBX3	chr6:4488670-4488959	K562	blood:	n/a	n/a
12	CBX3	chr6:4488530-4489100	HCT-116	colon:	n/a	n/a
13	CBX3	chr6:4488398-4489131	HCT-116	colon:	n/a	n/a
14	CBX3	chr6:4487668-4488356	HCT-116	colon:	n/a	n/a
15	CBX3	chr6:4488601-4489012	K562	blood:	n/a	n/a
16	CEBPB	chr6:4518708-4519305	A549	lung:	n/a	chr6:4519155-4519166 chr6:4519155-4519166
17	CEBPB	chr6:4487818-4488219	HCT-116	colon:	n/a	n/a
18	CEBPB	chr6:4531807-4531906	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr6:4518406-4518445	K562	blood:	n/a	n/a
20	CEBPB	chr6:4489702-4490200	MCF-7	breast:	n/a	n/a
21	CEBPB	chr6:4489723-4490252	MCF-7	breast:	n/a	n/a
22	CEBPB	chr6:4539625-4539662	K562	blood:	n/a	n/a
23	CEBPB	chr6:4496505-4496857	MCF-7	breast:	n/a	n/a
24	CEBPB	chr6:4504007-4504284	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr6:4549181-4549381	HepG2	liver:	n/a	chr6:4549270-4549281
26	CEBPB	chr6:4502036-4502108	IMR90	lung:	n/a	n/a
27	CEBPB	chr6:4518799-4519236	A549	lung:	n/a	chr6:4519155-4519166 chr6:4519155-4519166
28	CEBPB	chr6:4505034-4505311	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr6:4518834-4519183	A549	lung:	n/a	chr6:4519155-4519166 chr6:4519155-4519166
30	CEBPB	chr6:4505027-4505262	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr6:4487877-4488064	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr6:4518804-4519203	IMR90	lung:	n/a	chr6:4519155-4519166 chr6:4519155-4519166
33	CHD2	chr6:4487887-4488066	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr6:4503951-4504343	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr6:4509981-4510026	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr6:4517340-4517490	HCT-116	colon:	n/a	n/a
37	CTCF	chr6:4509832-4510135	K562	blood:	n/a	n/a
38	CTCF	chr6:4517220-4517370	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr6:4492090-4492133	Fibrobl	skin:	n/a	n/a
40	CTCF	chr6:4552360-4552510	GM12868	blood:	n/a	n/a
41	CTCF	chr6:4550240-4550390	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr6:4509860-4510010	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr6:4509900-4510050	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr6:4492080-4492230	HEK293	kidney:	n/a	n/a
45	CTCF	chr6:4517320-4517470	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr6:4492109-4492160	NHEK	skin:	n/a	n/a
47	CTCF	chr6:4509920-4510070	GM12864	blood:	n/a	n/a
48	CTCF	chr6:4509960-4510110	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr6:4517280-4517430	HMEC	breast:	n/a	n/a
50	CTCF	chr6:4512740-4512890	GM12866	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:4504273-4504323	MCF10A-Er-Src	breast:	n/a
2	chr6:4482990-4483040	HCPEpiC	choroid plexus:	n/a
3	chr6:4483078-4483128	H1-hESC	embryonic stem cell:	embryo
4	chr6:4482990-4483040	NH-A	brain:	n/a
5	chr6:4482883-4482933	IMR90	lung:	fetal
6	chr6:4483078-4483128	HRCEpiC	kidney:	n/a
7	chr6:4483078-4483128	LNCaP	prostate:	n/a
8	chr6:4504273-4504323	HNPCEpiC	eye:	n/a
9	chr6:4504273-4504323	HRCEpiC	kidney:	n/a
10	chr6:4482990-4483040	HRCEpiC	kidney:	n/a
11	chr6:4482990-4483040	U87	brain:	n/a
12	chr6:4483078-4483128	RPTEC	kidney:	n/a
13	chr6:4482990-4483040	LNCaP	prostate:	n/a
14	chr6:4482990-4483040	GM19239	blood:	n/a
15	chr6:4504273-4504323	SKMC	muscle:	n/a
16	chr6:4483078-4483128	HL-60	blood:	n/a
17	chr6:4504273-4504323	HEK293	kidney:	embryo
18	chr6:4483078-4483128	MCF10A-Er-Src	breast:	n/a
19	chr6:4483078-4483128	MCF-7	breast:	n/a
20	chr6:4504273-4504323	SAEC	small airway:	n/a
21	chr6:4482990-4483040	NHDF-neo	bronchial:	n/a
22	chr6:4482990-4483040	HUVEC	blood vessel:	n/a
23	chr6:4482883-4482933	HEEpiC	esophagus:	n/a
24	chr6:4483078-4483128	AoSMC	blood vessel:	n/a
25	chr6:4483078-4483128	SAEC	small airway:	n/a
26	chr6:4482990-4483040	Jurkat	blood:	n/a
27	chr6:4482990-4483040	BE2_C	brain:	n/a
28	chr6:4483078-4483128	HCT-116	colon:	n/a
29	chr6:4504273-4504323	Hela-S3	cervix:	n/a
30	chr6:4483078-4483128	AG04450	lung:	fetal
31	chr6:4504273-4504323	HRE	kidney:	n/a
32	chr6:4504273-4504323	H1-hESC	embryonic stem cell:	embryo
33	chr6:4483078-4483128	GM12892	blood:	n/a
34	chr6:4482990-4483040	AG10803	skin:	n/a
35	chr6:4504273-4504323	PFSK-1	brain:	n/a
36	chr6:4504273-4504323	NH-A	brain:	n/a
37	chr6:4482883-4482933	SAEC	small airway:	n/a
38	chr6:4483078-4483128	PFSK-1	brain:	n/a
39	chr6:4482883-4482933	HMEC	breast:	n/a
40	chr6:4504273-4504323	ProgFib	skin:	n/a
41	chr6:4483078-4483128	AG09309	skin:	n/a
42	chr6:4482883-4482933	HPAEpiC	pulmonary alveolar:	n/a
43	chr6:4482990-4483040	HepG2	liver:	n/a
44	chr6:4482883-4482933	NH-A	brain:	n/a
45	chr6:4482883-4482933	HNPCEpiC	eye:	n/a
46	chr6:4482990-4483040	HEK293	kidney:	embryo
47	chr6:4482883-4482933	MCF10A-Er-Src	breast:	n/a
48	chr6:4482883-4482933	HepG2	liver:	n/a
49	chr6:4482883-4482933	HRE	kidney:	n/a
50	chr6:4482883-4482933	AG09319	gingival:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4531478..4534121-chr6:4535012..4536793,2	K562	blood:
2	chr6:4479237..4481357-chr6:4482342..4483965,2	MCF-7	breast:
3	chr6:4500851..4502554-chr6:4504485..4506136,2	MCF-7	breast:
4	chr6:4511326..4512980-chr6:4514957..4517547,2	MCF-7	breast:
5	chr6:4541541..4543102-chr6:4543520..4545453,2	MCF-7	breast:
6	chr6:4516447..4519219-chr6:4774019..4776192,2	MCF-7	breast:
7	chr6:4531478..4534121-chr6:4535012..4536793,2	K562	blood:
8	chr6:4512968..4515145-chr6:4517731..4519353,2	K562	blood:
9	chr6:4513834..4516076-chr6:4516408..4519317,2	MCF-7	breast:
10	chr6:4495649..4497991-chr6:4500264..4503744,3	MCF-7	breast:
11	chr6:4504917..4506425-chr6:4776008..4778518,2	MCF-7	breast:
12	chr6:4488176..4491651-chr6:4775983..4779929,5	MCF-7	breast:
13	chr6:4515357..4517469-chr6:4523279..4525326,2	K562	blood:
14	chr6:4493861..4495559-chr6:4495839..4497666,2	MCF-7	breast:
15	chr6:4488735..4490606-chr6:4493086..4495998,2	MCF-7	breast:
16	chr6:4521281..4523043-chr6:4530358..4531862,2	K562	blood:
17	chr6:4520201..4522064-chr6:4525478..4527127,2	K562	blood:
18	chr6:4495649..4497991-chr6:4500264..4503744,3	MCF-7	breast:
19	chr6:4512446..4515936-chr6:4516178..4519231,3	K562	blood:
20	chr6:4489721..4491825-chr6:4493437..4495768,2	MCF-7	breast:
21	chr6:4515357..4517469-chr6:4523279..4525326,2	K562	blood:
22	chr6:4510973..4512545-chr6:4553397..4556208,2	K562	blood:
23	chr6:4512446..4515936-chr6:4516178..4519231,3	K562	blood:
24	chr6:4541541..4543102-chr6:4543520..4545453,2	MCF-7	breast:
25	chr6:4493861..4495559-chr6:4495839..4497666,2	MCF-7	breast:
26	chr6:4511326..4512980-chr6:4514957..4517547,2	MCF-7	breast:
27	chr6:4544633..4546400-chr6:4551382..4552893,2	MCF-7	breast:
28	chr6:4545947..4547958-chr6:4551053..4552583,2	K562	blood:
29	chr6:4510973..4512545-chr6:4553397..4556208,2	K562	blood:
30	chr6:4500851..4502554-chr6:4504485..4506136,2	MCF-7	breast:
31	chr6:4476053..4476701-chr6:4489878..4490608,2	MCF-7	breast:
32	chr6:4513834..4516076-chr6:4516408..4519317,2	MCF-7	breast:
33	chr6:4510316..4512322-chr6:4518420..4520155,2	MCF-7	breast:
34	chr6:4481267..4483998-chr6:4490747..4493178,3	MCF-7	breast:
35	chr6:4490764..4493253-chr6:4501341..4503648,2	K562	blood:
36	chr6:4488735..4490606-chr6:4493086..4495998,2	MCF-7	breast:
37	chr6:4552526..4554693-chr6:4558953..4561046,2	K562	blood:
38	chr6:4512968..4515145-chr6:4517731..4519353,2	K562	blood:
39	chr6:4520201..4522064-chr6:4525478..4527127,2	K562	blood:
40	chr6:4521281..4523043-chr6:4530358..4531862,2	K562	blood:
41	chr6:4510316..4512322-chr6:4518420..4520155,2	MCF-7	breast:
42	chr6:4491753..4493868-chr6:4501405..4503648,2	K562	blood:
43	chr6:4545947..4547958-chr6:4551053..4552583,2	K562	blood:
44	chr6:4544633..4546400-chr6:4551382..4552893,2	MCF-7	breast:
45	chr6:4475754..4476701-chr6:4489829..4490378,2	MCF-7	breast:
46	chr6:4489721..4491825-chr6:4493437..4495768,2	MCF-7	breast:
47	chr6:4490287..4491939-chr6:4601250..4603632,2	MCF-7	breast:

(count:69 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL-14	chr6:4554105-4554153	NONHSAT107450
2	lnc-ECI2-11	chr6:4544230-4544314	NONHSAT107451
3	lnc-ECI2-11	chr6:4542119-4542409	NONHSAT107451
4	lnc-CDYL-16	chr6:4524393-4524492	NONHSAT107446
5	lnc-CDYL-2	chr6:4494116-4495989	XLOC_005141
6	lnc-CDYL-2	chr6:4490201-4490225	XLOC_005141
7	lnc-CDYL-2	chr6:4494730-4496003	NONHSAT107439
8	lnc-ECI2-11	chr6:4545131-4545428	NONHSAT107451
9	lnc-ECI2-10	chr6:4520406-4520617	NONHSAT107443
10	lnc-CDYL-18	chr6:4498633-4498752	NONHSAT107441
11	lnc-ECI2-9	chr6:4493621-4493716	NONHSAT107438
12	lnc-ECI2-9	chr6:4496431-4496481	NONHSAT107438
13	lnc-CDYL-16	chr6:4528843-4529106	NONHSAT107446
14	lnc-CDYL-17	chr6:4521728-4521825	NONHSAT107444
15	lnc-ECI2-11	chr6:4546135-4546218	NONHSAT107451
16	lnc-ECI2-9	chr6:4494994-4495062	NONHSAT107438
17	lnc-ECI2-10	chr6:4518583-4518828	NONHSAT107443
18	lnc-CDYL-17	chr6:4524897-4524982	NONHSAT107444
19	lnc-ECI2-9	chr6:4496615-4496793	NONHSAT107438
20	lnc-CDYL-2	chr6:4494116-4496003	ENSG00000260239.1
21	lnc-CDYL-17	chr6:4521176-4521221	NONHSAT107444
22	lnc-CDYL-17	chr6:4525065-4525118	NONHSAT107444
23	lnc-ECI2-11	chr6:4544611-4544862	NONHSAT107451
24	lnc-CDYL-2	chr6:4492041-4492424	NONHSAT107439
25	lnc-CDYL-15	chr6:4529956-4530242	NONHSAT107448
26	lnc-ECI2-9	chr6:4496045-4496342	NONHSAT107438
27	lnc-ECI2-11	chr6:4543791-4543865	NONHSAT107451
28	lnc-ECI2-9	chr6:4495525-4495776	NONHSAT107438
29	lnc-ECI2-11	chr6:4544080-4544148	NONHSAT107451
30	lnc-ECI2-9	chr6:4494705-4494779	NONHSAT107438
31	lnc-ECI2-11	chr6:4542516-4542627	NONHSAT107451
32	lnc-ECI2-9	chr6:4495144-4495228	NONHSAT107438
33	lnc-ECI2-11	chr6:4544422-4544525	NONHSAT107451
34	lnc-CDYL-16	chr6:4539383-4539663	NONHSAT107446
35	lnc-ECI2-11	chr6:4545701-4545879	NONHSAT107451
36	lnc-CDYL-18	chr6:4500610-4500803	NONHSAT107441
37	lnc-ECI2-11	chr6:4542707-4542802	NONHSAT107451
38	lnc-CDYL-2	chr6:4492041-4492424	ENSG00000260239.1
39	lnc-CDYL-2	chr6:4490914-4491087	XLOC_005141
40	lnc-ECI2-9	chr6:4491674-4492333	NONHSAT107438
41	lnc-ECI2-9	chr6:4494051-4494083	NONHSAT107438
42	lnc-ECI2-10	chr6:4520762-4521593	NONHSAT107443
43	lnc-CDYL-16	chr6:4540199-4540309	NONHSAT107446
44	lnc-ECI2-9	chr6:4495336-4495439	NONHSAT107438
45	lnc-ECI2-9	chr6:4493033-4493323	NONHSAT107438
46	lnc-CDYL-14	chr6:4552858-4553138	NONHSAT107450
47	lnc-ECI2-9	chr6:4492447-4492561	NONHSAT107438
48	lnc-ECI2-11	chr6:4545517-4545567	NONHSAT107451
49	lnc-CDYL-18	chr6:4499713-4499808	NONHSAT107441
50	lnc-CDYL-18	chr6:4498887-4498986	NONHSAT107441

No data

Variant related genes	Relation type
ENSG00000270695	TF binding region
ENSG00000260239	TF binding region
ENSG00000270695	CpG island
ENSG00000260239	CpG island
ENSG00000153046	chromatin interactions
ENSG00000260673	chromatin interactions
ENSG00000260239	chromatin interactions
ENSG00000236336	chromatin interactions

Extended variants
information (count: 2286 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2286 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566197149	chr6:4482007-4482008	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148274982	chr6:4482052-4482053	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34797769	chr6:4482055-4482056	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76542394	chr6:4482076-4482077	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs6914063	chr6:4482102-4482103	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182076047	chr6:4482142-4482143	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4959298	chr6:4482172-4482173	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565754262	chr6:4482173-4482174	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556884454	chr6:4482193-4482194	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528141496	chr6:4482196-4482197	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375401734	chr6:4482213-4482214	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs573492339	chr6:4482235-4482236	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs9328253	chr6:4482252-4482253	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4959993	chr6:4482288-4482289	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372079731	chr6:4482299-4482300	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536858476	chr6:4482342-4482343	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149118656	chr6:4482372-4482373	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143114929	chr6:4482377-4482378	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115330458	chr6:4482405-4482406	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530424729	chr6:4482438-4482439	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535818693	chr6:4482464-4482465	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544121177	chr6:4482470-4482471	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111567603	chr6:4482487-4482488	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529493500	chr6:4482507-4482508	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549625409	chr6:4482530-4482531	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566163729	chr6:4482616-4482617	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4959994	chr6:4482625-4482626	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551593747	chr6:4482692-4482693	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369260791	chr6:4482706-4482707	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113269416	chr6:4482735-4482736	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572418158	chr6:4482802-4482803	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74598079	chr6:4482804-4482805	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556823269	chr6:4482837-4482838	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567252774	chr6:4482882-4482883	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536164693	chr6:4482888-4482889	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553100224	chr6:4482903-4482904	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572964849	chr6:4482918-4482919	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs118190518	chr6:4482937-4482938	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148249906	chr6:4482952-4482953	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575165196	chr6:4482955-4482956	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544257693	chr6:4482966-4482967	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115383268	chr6:4482987-4482988	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529582822	chr6:4483000-4483001	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543357111	chr6:4483039-4483040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559857055	chr6:4483148-4483149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375566109	chr6:4483188-4483189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs3966765	chr6:4483214-4483215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187030194	chr6:4483218-4483219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4053269	chr6:4483221-4483222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs67955062	chr6:4483222-4483223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4480400-4482400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:4480400-4483000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:4480600-4482800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr6:4480600-4483200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:4480600-4483400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:4481000-4482000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:4481000-4482200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:4481000-4482400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
9	chr6:4481200-4482000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:4481200-4482000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:4481400-4482000	Enhancers	Brain Germinal Matrix	brain
12	chr6:4481400-4482000	Weak transcription	Lung	lung
13	chr6:4481600-4482400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:4481600-4484400	Weak transcription	Right Atrium	heart
15	chr6:4482000-4482200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:4482000-4482200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr6:4482000-4482600	Enhancers	Lung	lung
18	chr6:4482200-4482800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:4482600-4485200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:4482800-4483000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr6:4482800-4483000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:4483000-4485000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:4484800-4486400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:4486000-4486200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr6:4486000-4487600	Enhancers	Placenta	Placenta
26	chr6:4486200-4486800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:4486200-4487000	Enhancers	Brain Cingulate Gyrus	brain
28	chr6:4486400-4487400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr6:4486400-4487800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr6:4486600-4487400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr6:4486600-4487600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:4486600-4487600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:4486600-4487600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:4486600-4487600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:4486800-4487200	Enhancers	HSMMtube	muscle
36	chr6:4486800-4487600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr6:4486800-4487600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:4486800-4487600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:4487000-4487400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:4487000-4487400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:4487400-4487800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:4487600-4487800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:4487600-4487800	Weak transcription	Placenta	Placenta
44	chr6:4487600-4488400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:4487800-4489000	ZNF genes & repeats	Placenta	Placenta
46	chr6:4487800-4489400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr6:4489000-4489200	Weak transcription	Placenta	Placenta
48	chr6:4489200-4490000	Enhancers	Placenta	Placenta
49	chr6:4489400-4489600	ZNF genes & repeats	Esophagus	oesophagus
50	chr6:4489400-4490800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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