Variant report

Variant	nsv1002574
Chromosome Location	chr4:100023999-100133693
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	chr4:100051750-100051887	K562	blood:	n/a	n/a
2	ARID3A	chr4:100087752-100088164	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:100080697-100081156	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:100063004-100063010	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:100089099-100089294	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:100039424-100039514	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:100126236-100127065	HepG2	liver:	n/a	n/a
8	ARID3A	chr4:100078087-100079360	HepG2	liver:	n/a	n/a
9	ARID3A	chr4:100065108-100065911	HepG2	liver:	n/a	n/a
10	BATF	chr4:100113638-100113790	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:100078565-100079055	HepG2	liver:	n/a	n/a
12	CEBPB	chr4:100126778-100127013	HepG2	liver:	n/a	chr4:100126944-100126955 chr4:100126944-100126955 chr4:100126888-100126900
13	CEBPB	chr4:100078242-100079073	HepG2	liver:	n/a	n/a
14	CEBPB	chr4:100101529-100101897	IMR90	lung:	n/a	chr4:100101697-100101708
15	CEBPB	chr4:100078634-100078996	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:100111062-100111435	HepG2	liver:	n/a	chr4:100111245-100111256
17	CEBPB	chr4:100128604-100128837	K562	blood:	n/a	chr4:100128748-100128759
18	CEBPB	chr4:100126351-100126650	H1-hESC	embryonic stem cell:	n/a	chr4:100126486-100126497
19	CEBPB	chr4:100128569-100128934	IMR90	lung:	n/a	chr4:100128748-100128759
20	CEBPB	chr4:100125068-100125268	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr4:100111070-100111428	K562	blood:	n/a	chr4:100111245-100111256
22	CEBPB	chr4:100126305-100126657	HepG2	liver:	n/a	chr4:100126486-100126497
23	CEBPB	chr4:100125099-100125246	K562	blood:	n/a	n/a
24	CEBPB	chr4:100128570-100128804	HepG2	liver:	n/a	chr4:100128748-100128759
25	CEBPB	chr4:100075833-100076394	A549	lung:	n/a	n/a
26	CEBPB	chr4:100126333-100127073	IMR90	lung:	n/a	chr4:100126944-100126955 chr4:100126486-100126497 chr4:100126944-100126955 chr4:100126888-100126900
27	CEBPB	chr4:100101641-100101813	A549	lung:	n/a	chr4:100101697-100101708
28	CEBPB	chr4:100111077-100111427	A549	lung:	n/a	chr4:100111245-100111256
29	CEBPB	chr4:100111069-100111432	IMR90	lung:	n/a	chr4:100111245-100111256
30	CEBPB	chr4:100065340-100065623	HepG2	liver:	n/a	chr4:100065485-100065498 chr4:100065485-100065498 chr4:100065485-100065496
31	CEBPB	chr4:100065301-100065731	HepG2	liver:	n/a	chr4:100065485-100065498 chr4:100065485-100065498 chr4:100065485-100065496
32	CEBPB	chr4:100078582-100078960	HepG2	liver:	n/a	n/a
33	CEBPB	chr4:100082376-100082606	HepG2	liver:	n/a	n/a
34	CEBPB	chr4:100111142-100111424	Hela-S3	cervix:	n/a	chr4:100111245-100111256
35	CEBPB	chr4:100111081-100111438	MCF-7	breast:	n/a	chr4:100111245-100111256
36	CEBPB	chr4:100065361-100065625	IMR90	lung:	n/a	chr4:100065485-100065498 chr4:100065485-100065498 chr4:100065485-100065496
37	CEBPB	chr4:100125021-100125340	HepG2	liver:	n/a	n/a
38	CEBPB	chr4:100111109-100111357	HepG2	liver:	n/a	chr4:100111245-100111256
39	CEBPB	chr4:100128629-100128898	A549	lung:	n/a	chr4:100128748-100128759
40	CEBPB	chr4:100126297-100127136	HepG2	liver:	n/a	chr4:100126944-100126955 chr4:100126486-100126497 chr4:100126944-100126955 chr4:100126888-100126900
41	CEBPB	chr4:100126828-100127018	HepG2	liver:	n/a	chr4:100126944-100126955 chr4:100126944-100126955 chr4:100126888-100126900
42	CEBPB	chr4:100101627-100101836	HepG2	liver:	n/a	chr4:100101697-100101708
43	CEBPB	chr4:100111078-100111370	H1-hESC	embryonic stem cell:	n/a	chr4:100111245-100111256
44	CEBPB	chr4:100128577-100128913	H1-hESC	embryonic stem cell:	n/a	chr4:100128748-100128759
45	CEBPB	chr4:100078267-100078975	HepG2	liver:	n/a	n/a
46	CEBPB	chr4:100128587-100128935	HepG2	liver:	n/a	chr4:100128748-100128759
47	CEBPB	chr4:100075842-100076106	IMR90	lung:	n/a	n/a
48	CEBPB	chr4:100126335-100126686	MCF-7	breast:	n/a	chr4:100126486-100126497
49	CEBPB	chr4:100123717-100123973	IMR90	lung:	n/a	chr4:100123756-100123767 chr4:100123756-100123767
50	CEBPB	chr4:100065337-100065723	HepG2	liver:	n/a	chr4:100065485-100065498 chr4:100065485-100065498 chr4:100065485-100065496

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100025015-100025065	K562	blood:	n/a
2	chr4:100128186-100128236	T-47D	breast:	n/a
3	chr4:100128186-100128236	U87	brain:	n/a
4	chr4:100025015-100025065	K562	blood:	n/a
5	chr4:100128186-100128236	T-47D	breast:	n/a
6	chr4:100128186-100128236	U87	brain:	n/a
7	chr4:100101289-100101339	U87	brain:	n/a
8	chr4:100101289-100101339	CMK	blood:	n/a
9	chr4:100025015-100025065	H1-hESC	embryonic stem cell:	embryo
10	chr4:100083121-100083171	RPTEC	kidney:	n/a
11	chr4:100130470-100130520	AoSMC	blood vessel:	n/a
12	chr4:100041888-100041938	HCPEpiC	choroid plexus:	n/a
13	chr4:100041888-100041938	K562	blood:	n/a
14	chr4:100083331-100083381	GM06990	blood:	n/a
15	chr4:100038717-100038767	NHBE	bronchial:	n/a
16	chr4:100065546-100065596	AG09309	skin:	n/a
17	chr4:100082970-100083020	CMK	blood:	n/a
18	chr4:100125999-100126049	MCF-7	breast:	n/a
19	chr4:100041888-100041938	AG04449	skin:	fetal
20	chr4:100041888-100041938	SK-N-SH_RA	brain:	n/a
21	chr4:100065546-100065596	HCT-116	colon:	n/a
22	chr4:100025015-100025065	ProgFib	skin:	n/a
23	chr4:100083121-100083171	HEK293	kidney:	embryo
24	chr4:100083331-100083381	IMR90	lung:	fetal
25	chr4:100083331-100083381	NT2-D1	testis:	n/a
26	chr4:100128186-100128236	AG04450	lung:	fetal
27	chr4:100083331-100083381	HCM	heart:	n/a
28	chr4:100128186-100128236	HAEpiC	amniotic membrane:	n/a
29	chr4:100130470-100130520	SKMC	muscle:	n/a
30	chr4:100083331-100083381	T-47D	breast:	n/a
31	chr4:100083331-100083381	GM12892	blood:	n/a
32	chr4:100130470-100130520	MCF-7	breast:	n/a
33	chr4:100101289-100101339	HNPCEpiC	eye:	n/a
34	chr4:100083331-100083381	SK-N-MC	brain:	n/a
35	chr4:100065546-100065596	RPTEC	kidney:	n/a
36	chr4:100083331-100083381	AoSMC	blood vessel:	n/a
37	chr4:100101289-100101339	GM19239	blood:	n/a
38	chr4:100082970-100083020	HCM	heart:	n/a
39	chr4:100041888-100041938	NT2-D1	testis:	n/a
40	chr4:100101289-100101339	HIPEpiC	eye:	n/a
41	chr4:100025015-100025065	A549	lung:	n/a
42	chr4:100125999-100126049	ECC-1	luminal epithelium:	n/a
43	chr4:100038717-100038767	HAEpiC	amniotic membrane:	n/a
44	chr4:100038717-100038767	Hela-S3	cervix:	n/a
45	chr4:100038717-100038767	CMK	blood:	n/a
46	chr4:100025015-100025065	ovcar-3	ovarian:	n/a
47	chr4:100083121-100083171	IMR90	lung:	fetal
48	chr4:100038717-100038767	HCM	heart:	n/a
49	chr4:100130470-100130520	AG09309	skin:	n/a
50	chr4:100125999-100126049	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:100039119..100039756-chr4:100378505..100379028,2	MCF-7	breast:
2	chr4:100009811..100011847-chr4:100024562..100026344,2	MCF-7	breast:
3	chr4:100122531..100123516-chr4:100326382..100326915,3	MCF-7	breast:
4	chr4:99914784..99916943-chr4:100045840..100048250,2	K562	blood:
5	chr4:100039211..100039845-chr4:100326145..100326879,2	MCF-7	breast:
6	chr4:99916019..99918646-chr4:100083097..100084598,2	K562	blood:
7	chr4:100062982..100065976-chr4:100067343..100070151,2	K562	blood:
8	chr4:100122648..100123636-chr4:100326377..100326984,3	MCF-7	breast:
9	chr4:100008381..100011330-chr4:100056699..100058939,2	MCF-7	breast:
10	chr4:100039143..100039863-chr4:100383697..100384671,5	MCF-7	breast:
11	chr4:100038972..100039679-chr4:100326321..100327345,4	K562	blood:
12	chr4:100069725..100072421-chr4:100081070..100082749,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METAP1-3	chr4:100082941-100083061	ENSG00000246090
2	lnc-ADH4-1	chr4:100081751-100082804	NONHSAT097523
3	lnc-METAP1-3	chr4:100109802-100110012	ENSG00000246090
4	lnc-ADH4-1	chr4:100081671-100082422	NONHSAT097522
5	lnc-METAP1-6	chr4:100104128-100104555	l_2690_chr4:100101302-100104555_testes
6	lnc-METAP1-3	chr4:100125514-100125584	ENSG00000246090
7	lnc-METAP1-3	chr4:100082967-100083061	ENSG00000246090
8	lnc-METAP1-3	chr4:100054706-100054956	ENSG00000246090
9	lnc-METAP1-3	chr4:100125514-100125588	ENSG00000246090
10	lnc-METAP1-6	chr4:100103643-100103769	l_2690_chr4:100101302-100104555_testes
11	lnc-ADH4-1	chr4:100082094-100082802	NONHSAT097524
12	lnc-METAP1-3	chr4:100125514-100125588	ENSG00000246090
13	lnc-METAP1-6	chr4:100101303-100101330	l_2690_chr4:100101302-100104555_testes
14	lnc-METAP1-3	chr4:100075702-100078736	ENSG00000246090

Variant related genes	Relation type
ADH6	TF binding region
PCNAP1	TF binding region
ADH4	TF binding region
ENSG00000246090	TF binding region
ADH6	CpG island
PCNAP1	CpG island
ADH4	CpG island
ENSG00000246090	CpG island
ENSG00000198099	chromatin interactions
ENSG00000164024	chromatin interactions
ENSG00000265213	chromatin interactions
ENSG00000249065	chromatin interactions
ENSG00000197894	chromatin interactions
ENSG00000246090	chromatin interactions

Extended variants
information (count: 3972 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:3972 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6823388	chr4:100023999-100024000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78111277	chr4:100024003-100024004	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185040067	chr4:100024006-100024007	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565929787	chr4:100024039-100024040	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574374479	chr4:100024202-100024203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147933320	chr4:100024230-100024231	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141797352	chr4:100024290-100024291	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10570148	chr4:100024301-100024302	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200032057	chr4:100024303-100024304	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80045219	chr4:100024310-100024311	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200983168	chr4:100024311-100024312	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145444051	chr4:100024319-100024320	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2034696	chr4:100024322-100024323	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs545122910	chr4:100024382-100024383	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35629059	chr4:100024388-100024389	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5860561	chr4:100024465-100024466	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74574307	chr4:100024474-100024475	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190536240	chr4:100024527-100024528	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147700389	chr4:100024587-100024588	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548948417	chr4:100024611-100024612	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs180944462	chr4:100024615-100024616	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529123908	chr4:100024616-100024617	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539269375	chr4:100024622-100024623	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11379579	chr4:100024696-100024697	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs397734132	chr4:100024697-100024698	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs77039849	chr4:100024698-100024699	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs111543622	chr4:100024699-100024700	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552627447	chr4:100024722-100024723	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs1869458	chr4:100024728-100024729	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539685296	chr4:100024765-100024766	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs140926240	chr4:100024857-100024858	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560456896	chr4:100024882-100024883	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs2851275	chr4:100024883-100024884	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs75347623	chr4:100024904-100024905	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs150196501	chr4:100024958-100024959	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554082260	chr4:100024979-100024980	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs185944446	chr4:100024995-100024996	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs28470942	chr4:100025015-100025016	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541713294	chr4:100025079-100025080	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs553715381	chr4:100025127-100025128	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs2602846	chr4:100025151-100025152	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs545571312	chr4:100025170-100025171	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189609165	chr4:100025200-100025201	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138629108	chr4:100025201-100025202	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531011118	chr4:100025295-100025296	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs114562449	chr4:100025329-100025330	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs148903524	chr4:100025408-100025409	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs528476019	chr4:100025427-100025428	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547242901	chr4:100025465-100025466	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562219207	chr4:100025485-100025486	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100011400-100025800	Weak transcription	Esophagus	oesophagus
2	chr4:100011600-100025600	Weak transcription	Primary T cells from cord blood	blood
3	chr4:100012800-100063800	Weak transcription	Aorta	Aorta
4	chr4:100014400-100024000	Weak transcription	HMEC	breast
5	chr4:100020400-100024400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:100020600-100034800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:100020800-100032800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:100020800-100038600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:100021000-100032200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:100021000-100041200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:100021400-100025200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:100021600-100024400	Weak transcription	Small Intestine	intestine
13	chr4:100022200-100024000	Weak transcription	Osteobl	bone
14	chr4:100022200-100024200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:100022200-100024600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:100022200-100025400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:100022600-100024800	Weak transcription	Adipose Nuclei	Adipose
18	chr4:100022600-100025000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:100022800-100024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:100022800-100024000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:100023000-100055600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:100023800-100025800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:100024000-100024200	Enhancers	HMEC	breast
24	chr4:100024000-100025800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:100024000-100025800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:100024200-100025000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:100024400-100024600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr4:100024600-100025200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:100024800-100025000	Enhancers	Small Intestine	intestine
30	chr4:100024800-100025600	Enhancers	Adipose Nuclei	Adipose
31	chr4:100025000-100025800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:100025400-100025800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr4:100025600-100025800	Enhancers	Placenta	Placenta
34	chr4:100025600-100025800	Enhancers	Osteobl	bone
35	chr4:100025800-100038400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:100026200-100026400	Enhancers	Lung	lung
37	chr4:100028600-100029200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr4:100028800-100029400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:100029000-100029200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:100029000-100029400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:100029800-100030600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:100031200-100031800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:100034800-100035000	Enhancers	Ovary	ovary
44	chr4:100034800-100035000	Enhancers	Stomach Smooth Muscle	stomach
45	chr4:100035000-100098200	Weak transcription	Ovary	ovary
46	chr4:100038200-100040000	Enhancers	Liver	Liver
47	chr4:100038400-100038800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr4:100038800-100040400	Enhancers	HepG2	liver
49	chr4:100038800-100055200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:100039000-100039200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links