Variant report

Variant	nsv527886
Chromosome Location	chr3:103048891-103989893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2899)
CpG islands
(count:611)
Chromatin interactive
region (count:32)
LncRNA
region (count:22)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:2899 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:103666015-103666141	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:103626490-103626753	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:103710322-103710658	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:103695046-103696618	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:103156773-103156995	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:103724705-103724974	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:103925893-103926002	HepG2	liver:	n/a	n/a
8	ATF2	chr3:103290808-103291325	GM12878	blood:	n/a	n/a
9	ATF2	chr3:103290805-103291256	GM12878	blood:	n/a	n/a
10	BACH1	chr3:103536887-103537042	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr3:103884749-103885041	H1-hESC	embryonic stem cell:	n/a	chr3:103884906-103884920
12	BACH1	chr3:103513625-103513801	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr3:103505081-103505397	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr3:103884809-103885080	K562	blood:	n/a	chr3:103884906-103884920
15	BATF	chr3:103290849-103291204	GM12878	blood:	n/a	n/a
16	BCL11A	chr3:103290919-103291146	GM12878	blood:	n/a	n/a
17	BHLHE40	chr3:103810880-103810900	GM12878	blood:	n/a	n/a
18	BHLHE40	chr3:103230775-103230926	GM12878	blood:	n/a	n/a
19	BHLHE40	chr3:103821208-103821464	GM12878	blood:	n/a	n/a
20	BHLHE40	chr3:103759961-103759976	GM12878	blood:	n/a	n/a
21	BHLHE40	chr3:103397888-103397904	GM12878	blood:	n/a	n/a
22	BHLHE40	chr3:103695804-103696184	HepG2	liver:	n/a	n/a
23	BRCA1	chr3:103709128-103709151	GM12878	blood:	n/a	n/a
24	CBX3	chr3:103431189-103431513	HCT-116	colon:	n/a	n/a
25	CCNT2	chr3:103451750-103452198	K562	blood:	n/a	n/a
26	CEBPB	chr3:103509540-103509798	IMR90	lung:	n/a	chr3:103509665-103509676 chr3:103509665-103509674
27	CEBPB	chr3:103409661-103409927	A549	lung:	n/a	chr3:103409756-103409767
28	CEBPB	chr3:103333974-103334184	Hela-S3	cervix:	n/a	chr3:103334066-103334079
29	CEBPB	chr3:103206909-103207111	A549	lung:	n/a	chr3:103207047-103207058
30	CEBPB	chr3:103308326-103308613	A549	lung:	n/a	n/a
31	CEBPB	chr3:103855958-103856371	Hela-S3	cervix:	n/a	chr3:103856132-103856145 chr3:103856180-103856193
32	CEBPB	chr3:103059941-103060309	A549	lung:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
33	CEBPB	chr3:103161325-103161588	IMR90	lung:	n/a	n/a
34	CEBPB	chr3:103717158-103717377	HepG2	liver:	n/a	chr3:103717246-103717257
35	CEBPB	chr3:103124933-103125262	HepG2	liver:	n/a	chr3:103125094-103125111 chr3:103125097-103125110 chr3:103125097-103125108 chr3:103125097-103125110
36	CEBPB	chr3:103090926-103091246	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr3:103626459-103626698	HepG2	liver:	n/a	chr3:103626567-103626578
38	CEBPB	chr3:103161395-103161610	HepG2	liver:	n/a	n/a
39	CEBPB	chr3:103107110-103107310	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr3:103059934-103060312	HepG2	liver:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
41	CEBPB	chr3:103869532-103869863	HepG2	liver:	n/a	chr3:103869676-103869687
42	CEBPB	chr3:103615716-103616043	IMR90	lung:	n/a	chr3:103615865-103615876
43	CEBPB	chr3:103059935-103060352	A549	lung:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
44	CEBPB	chr3:103232642-103232884	HepG2	liver:	n/a	chr3:103232716-103232727
45	CEBPB	chr3:103172604-103172835	HepG2	liver:	n/a	chr3:103172744-103172755
46	CEBPB	chr3:103710341-103710397	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr3:103124963-103125369	Hela-S3	cervix:	n/a	chr3:103125094-103125111 chr3:103125097-103125110 chr3:103125097-103125108 chr3:103125351-103125360 chr3:103125097-103125110
48	CEBPB	chr3:103059913-103060261	ECC-1	luminal epithelium:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
49	CEBPB	chr3:103897592-103897940	IMR90	lung:	n/a	chr3:103897701-103897712 chr3:103897765-103897776
50	CEBPB	chr3:103409629-103409911	H1-hESC	embryonic stem cell:	n/a	chr3:103409756-103409767

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:103645203-103645253	GM19239	blood:	n/a
2	chr3:103645203-103645253	GM19239	blood:	n/a
3	chr3:103645203-103645253	GM12891	blood:	n/a
4	chr3:103645203-103645253	HRE	kidney:	n/a
5	chr3:103645907-103645957	AG09309	skin:	n/a
6	chr3:103645700-103645750	NHBE	bronchial:	n/a
7	chr3:103645203-103645253	SK-N-SH	brain:	n/a
8	chr3:103513634-103513684	ovcar-3	ovarian:	n/a
9	chr3:103537959-103538009	HCM	heart:	n/a
10	chr3:103645997-103646047	RPTEC	kidney:	n/a
11	chr3:103930387-103930437	SAEC	small airway:	n/a
12	chr3:103926553-103926603	A549	lung:	n/a
13	chr3:103645882-103645932	GM12878	blood:	n/a
14	chr3:103532469-103532519	HMEC	breast:	n/a
15	chr3:103645700-103645750	AG09319	gingival:	n/a
16	chr3:103513634-103513684	GM06990	blood:	n/a
17	chr3:103645907-103645957	MCF10A-Er-Src	breast:	n/a
18	chr3:103513634-103513684	HCF	heart:	n/a
19	chr3:103645882-103645932	AG09319	gingival:	n/a
20	chr3:103645203-103645253	HepG2	liver:	n/a
21	chr3:103645203-103645253	AG04449	skin:	fetal
22	chr3:103645907-103645957	GM19239	blood:	n/a
23	chr3:103645997-103646047	Hela-S3	cervix:	n/a
24	chr3:103926553-103926603	BE2_C	brain:	n/a
25	chr3:103926553-103926603	HepG2	liver:	n/a
26	chr3:103645907-103645957	SK-N-SH_RA	brain:	n/a
27	chr3:103645907-103645957	ECC-1	luminal epithelium:	n/a
28	chr3:103645203-103645253	PANC-1	pancreas:	n/a
29	chr3:103645997-103646047	PrEC	prostate:	n/a
30	chr3:103645700-103645750	MCF10A-Er-Src	breast:	n/a
31	chr3:103645700-103645750	BJ	skin:	n/a
32	chr3:103645203-103645253	NT2-D1	testis:	n/a
33	chr3:103532469-103532519	SK-N-MC	brain:	n/a
34	chr3:103645882-103645932	U87	brain:	n/a
35	chr3:103513634-103513684	AG04450	lung:	fetal
36	chr3:103532469-103532519	RPTEC	kidney:	n/a
37	chr3:103513634-103513684	AoSMC	blood vessel:	n/a
38	chr3:103926553-103926603	SK-N-SH_RA	brain:	n/a
39	chr3:103645907-103645957	PrEC	prostate:	n/a
40	chr3:103645700-103645750	Jurkat	blood:	n/a
41	chr3:103513634-103513684	HRPEpiC	eye:	n/a
42	chr3:103645203-103645253	HMEC	breast:	n/a
43	chr3:103645997-103646047	GM06990	blood:	n/a
44	chr3:103513634-103513684	GM12892	blood:	n/a
45	chr3:103645907-103645957	HCF	heart:	n/a
46	chr3:103532469-103532519	HCPEpiC	choroid plexus:	n/a
47	chr3:103645882-103645932	NT2-D1	testis:	n/a
48	chr3:103537959-103538009	BJ	skin:	n/a
49	chr3:103532469-103532519	AG09319	gingival:	n/a
50	chr3:103645882-103645932	AG04449	skin:	fetal

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:43448083..43448937-chr3:103955529..103956134,2	MCF-7	breast:
2	chr3:103821229..103821749-chr3:103925613..103926201,2	MCF-7	breast:
3	chr3:103418196..103420246-chr3:103431375..103433647,2	MCF-7	breast:
4	chr3:103424446..103427403-chr3:103429119..103430974,2	MCF-7	breast:
5	chr3:103720043..103721593-chr3:105084716..105086679,2	MCF-7	breast:
6	chr3:103826755..103828262-chr3:103828801..103830471,2	MCF-7	breast:
7	chr3:103709950..103710945-chr3:103925530..103926295,2	MCF-7	breast:
8	chr3:103418196..103420246-chr3:103431375..103433647,2	MCF-7	breast:
9	chr3:103801464..103801966-chr9:129631201..129631808,2	MCF-7	breast:
10	chr3:103706366..103707164-chr3:187218063..187218925,2	MCF-7	breast:
11	chr3:103014701..103015436-chr3:103328029..103328722,3	MCF-7	breast:
12	chr3:103663959..103665790-chr3:103668581..103671355,2	K562	blood:
13	chr3:103014881..103015501-chr3:103328255..103328854,2	MCF-7	breast:
14	chr3:103424446..103427403-chr3:103429119..103430974,2	MCF-7	breast:
15	chr3:103596754..103597389-chr3:103609289..103610010,2	MCF-7	breast:
16	chr3:103517464..103519066-chr3:103520798..103522354,2	K562	blood:
17	chr3:103517464..103519066-chr3:103520798..103522354,2	K562	blood:
18	chr3:103672576..103675146-chr3:103946117..103948469,2	K562	blood:
19	chr3:103672576..103675146-chr3:103946117..103948469,2	K562	blood:
20	chr3:103826755..103828262-chr3:103828801..103830471,2	MCF-7	breast:
21	chr3:103709966..103710719-chr3:104179327..104180275,3	MCF-7	breast:
22	chr3:103880993..103882582-chr3:103882964..103884489,2	MCF-7	breast:
23	chr3:103575079..103576806-chr3:103584240..103586997,2	K562	blood:
24	chr3:103880993..103882582-chr3:103882964..103884489,2	MCF-7	breast:
25	chr3:103821229..103821749-chr3:103925613..103926201,2	MCF-7	breast:
26	chr3:103663959..103665790-chr3:103668581..103671355,2	K562	blood:
27	chr3:103596754..103597389-chr3:103609289..103610010,2	MCF-7	breast:
28	chr12:57117722..57120174-chr3:103567759..103569281,2	MCF-7	breast:
29	chr3:103575079..103576806-chr3:103584240..103586997,2	K562	blood:
30	chr3:103709950..103710945-chr3:103925530..103926295,2	MCF-7	breast:
31	chr18:59467934..59468577-chr3:103711169..103712107,2	MCF-7	breast:
32	chr16:12926733..12929305-chr3:103655550..103657071,2	MCF-7	breast:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALCAM-15	chr3:103987096-103987447	NONHSAT090951
2	lnc-ZPLD1-8	chr3:103198015-103199460	l_2420_NR_026934
3	lnc-ALCAM-17	chr3:103928928-103929115	l_2423_chr3:103927314-103929100_testes
4	lnc-CBLB-16	chr3:103876500-103876716	l_2422_chr3:103870374-103876716_testes
5	lnc-ALCAM-18	chr3:103781883-103782426	NONHSAT090947
6	lnc-ZPLD1-8	chr3:103142393-103142559	l_2420_NR_026934
7	lnc-ALCAM-16	chr3:103984584-103984654	FPKM1_group_21625_transcript_5
8	lnc-ALCAM-3	chr3:103646039-103646199	XLOC_002744
9	lnc-ZPLD1-10	chr3:103365267-103365509	l_2421_chr3:103365266-103366374_testes
10	lnc-ALCAM-3	chr3:103689452-103689595	NONHSAT090944
11	lnc-ALCAM-16	chr3:103986086-103986829	FPKM1_group_21625_transcript_5
12	lnc-ALCAM-16	chr3:103984584-103984654	NONHSAT090950
13	lnc-ZPLD1-8	chr3:103161896-103161996	l_2420_NR_026934
14	lnc-ZPLD1-9	chr3:103349505-103349756	NONHSAT090943
15	lnc-ALCAM-17	chr3:103927315-103927591	l_2423_chr3:103927314-103929100_testes
16	lnc-ZPLD1-8	chr3:103196095-103196431	l_2420_NR_026934
17	lnc-ZPLD1-10	chr3:103366208-103366374	l_2421_chr3:103365266-103366374_testes
18	lnc-ALCAM-3	chr3:103646038-103646199	NONHSAT090944
19	lnc-CBLB-16	chr3:103870375-103870796	l_2422_chr3:103870374-103876716_testes
20	lnc-CBLB-16	chr3:103875288-103875520	l_2422_chr3:103870374-103876716_testes
21	lnc-RPL24-6	chr3:103257479-103259331	NONHSAT090942
22	lnc-ALCAM-3	chr3:103730436-103730568	XLOC_002744

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548ab	chr3:103242929-103242950	MIMAT0018928

No data

Variant related genes	Relation type
ENSG00000265076	TF binding region
MIR548AB	TF binding region
TUBBP11	TF binding region
ENSG00000214405	TF binding region
ENSG00000240107	TF binding region
ENSG00000265076	CpG island
MIR548AB	CpG island
TUBBP11	CpG island
ENSG00000214405	CpG island
ENSG00000240107	CpG island
ENSG00000170017	chromatin interactions
ENSG00000196531	chromatin interactions

Extended variants
information (count: 9246 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:9246 , 50 per page) page: 1 2 3 4 5 6 7 ... 185

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201918684	chr3:103055224-103055225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554364398	chr3:103055237-103055238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73849661	chr3:103055244-103055245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191609236	chr3:103055270-103055271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140504806	chr3:103055299-103055300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576327400	chr3:103055330-103055331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150439402	chr3:103055389-103055390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138178088	chr3:103055401-103055402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558989043	chr3:103055421-103055422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558253346	chr3:103055437-103055438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577216458	chr3:103055446-103055447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79226126	chr3:103055449-103055450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200109179	chr3:103055452-103055453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182333480	chr3:103055472-103055473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138202662	chr3:103055482-103055483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559516313	chr3:103055504-103055505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574506641	chr3:103055514-103055515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542148565	chr3:103055523-103055524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541411008	chr3:103055531-103055532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563614223	chr3:103055614-103055615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530810712	chr3:103055665-103055666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9869350	chr3:103055693-103055694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149621172	chr3:103055705-103055706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187581702	chr3:103055713-103055714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547531850	chr3:103055715-103055716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566263553	chr3:103055724-103055725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553042214	chr3:103055727-103055728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565824176	chr3:103055730-103055731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144321385	chr3:103055737-103055738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139361208	chr3:103055745-103055746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193255916	chr3:103055771-103055772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368762680	chr3:103055782-103055783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572015042	chr3:103055806-103055807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561212637	chr3:103055829-103055830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143269790	chr3:103055871-103055872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10511210	chr3:103055872-103055873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185400912	chr3:103055886-103055887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534724809	chr3:103055898-103055899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568076813	chr3:103055938-103055939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552747523	chr3:103055942-103055943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574574961	chr3:103055954-103055955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147535890	chr3:103055955-103055956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190325264	chr3:103055981-103055982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140340481	chr3:103055990-103055991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545743237	chr3:103055995-103055996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565289102	chr3:103056008-103056009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192274620	chr3:103056015-103056016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144186494	chr3:103056039-103056040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150752751	chr3:103056044-103056045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531389667	chr3:103056100-103056101	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Developmental delay	22180640	CNVD
Chordoma	21215367	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	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	chr3:103055200-103056000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:103056000-103056400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr3:103061200-103061800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:103067200-103069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:103088800-103089000	Enhancers	Fetal Brain Female	brain
6	chr3:103088800-103091000	Enhancers	Fetal Brain Male	brain
7	chr3:103089000-103089800	Weak transcription	Fetal Brain Female	brain
8	chr3:103089800-103091400	Enhancers	Fetal Brain Female	brain
9	chr3:103104800-103105400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:103105000-103105600	Enhancers	Fetal Brain Male	brain
11	chr3:103106400-103107400	Enhancers	Colon Smooth Muscle	Colon
12	chr3:103106800-103107600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:103106800-103107800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:103107000-103107400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:103107000-103107600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:103107000-103107600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:103107200-103107400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:103107400-103107600	Enhancers	Fetal Brain Male	brain
19	chr3:103107800-103112200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:103112200-103113200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:103112600-103113200	Enhancers	NH-A	brain
22	chr3:103121200-103122400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:103121800-103122600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:103128800-103129200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
25	chr3:103165000-103165800	Enhancers	Stomach Mucosa	stomach
26	chr3:103165600-103166000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:103166400-103166600	Enhancers	Fetal Kidney	kidney
28	chr3:103166800-103167000	ZNF genes & repeats	Fetal Kidney	kidney
29	chr3:103168800-103169200	Active TSS	Psoas Muscle	Psoas
30	chr3:103181200-103181600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:103189400-103189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:103202800-103203200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:103216800-103218400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:103217400-103219400	Enhancers	NH-A	brain
35	chr3:103217800-103218200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:103218000-103218800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:103218200-103218600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:103218400-103218800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:103218400-103219000	Enhancers	HSMM	muscle
40	chr3:103218600-103219200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:103218800-103219400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:103219400-103221200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:103221200-103221800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:103230600-103231000	Enhancers	Fetal Intestine Small	intestine
45	chr3:103230800-103231800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:103231000-103231400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:103231000-103231600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:103231000-103231800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:103231000-103231800	Enhancers	Fetal Intestine Large	intestine
50	chr3:103231200-103231800	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links