Variant report

Variant	esv2760190
Chromosome Location	chr11:71513455-71552665
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	ATF2	chr11:71540829-71541073	GM12878	blood:	n/a	n/a
2	BATF	chr11:71527794-71528002	GM12878	blood:	n/a	chr11:71527879-71527890
3	BATF	chr11:71524810-71525112	GM12878	blood:	n/a	n/a
4	BATF	chr11:71532357-71532883	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:71540694-71541007	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:71532549-71532834	GM12878	blood:	n/a	n/a
7	BCL11A	chr11:71532424-71532928	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:71541847-71542211	GM12878	blood:	n/a	n/a
9	BHLHE40	chr11:71541854-71542142	K562	blood:	n/a	n/a
10	BHLHE40	chr11:71532638-71532832	GM12878	blood:	n/a	n/a
11	BHLHE40	chr11:71524868-71525086	GM12878	blood:	n/a	n/a
12	BHLHE40	chr11:71540852-71541062	GM12878	blood:	n/a	n/a
13	CEBPB	chr11:71549210-71549469	IMR90	lung:	n/a	chr11:71549347-71549358 chr11:71549347-71549356
14	CEBPB	chr11:71549258-71549410	HepG2	liver:	n/a	chr11:71549347-71549358 chr11:71549347-71549356
15	CEBPB	chr11:71549235-71549396	K562	blood:	n/a	chr11:71549347-71549358 chr11:71549347-71549356
16	CEBPB	chr11:71549224-71549424	A549	lung:	n/a	chr11:71549347-71549358 chr11:71549347-71549356
17	CEBPB	chr11:71549344-71549406	Hela-S3	cervix:	n/a	chr11:71549347-71549358 chr11:71549347-71549356
18	CHD1	chr11:71524751-71525147	IMR90	lung:	n/a	n/a
19	CTCF	chr11:71524860-71525010	HUVEC	blood vessel:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
20	CTCF	chr11:71524900-71525050	HUVEC	blood vessel:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
21	CTCF	chr11:71524719-71525161	A549	lung:	n/a	chr11:71524958-71524976 chr11:71524953-71524974 chr11:71524973-71524994 chr11:71524971-71524989 chr11:71524959-71524975
22	CTCF	chr11:71524880-71525030	GM12869	blood:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
23	CTCF	chr11:71524900-71525050	GM12866	blood:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
24	CTCF	chr11:71524780-71524930	HCM	heart:	n/a	n/a
25	CTCF	chr11:71524800-71524950	AG04450	lung:	n/a	n/a
26	CTCF	chr11:71524560-71524710	GM12871	blood:	n/a	n/a
27	CTCF	chr11:71524827-71525096	GM12891	blood:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
28	CTCF	chr11:71524819-71525115	Gliobla	brain:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
29	CTCF	chr11:71524828-71525124	GM10266	blood:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
30	CTCF	chr11:71524800-71524950	A549	lung:	n/a	n/a
31	CTCF	chr11:71518768-71519015	K562	blood:	n/a	chr11:71518921-71518942
32	CTCF	chr11:71524920-71525070	HRPEpiC	eye:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
33	CTCF	chr11:71541344-71541413	Medullo	brain:	n/a	n/a
34	CTCF	chr11:71524826-71525098	GM19239	blood:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
35	CTCF	chr11:71524820-71524970	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr11:71524820-71524970	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr11:71524880-71525030	GM06990	blood:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
38	CTCF	chr11:71524900-71525050	GM12873	blood:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
39	CTCF	chr11:71525020-71525170	A549	lung:	n/a	n/a
40	CTCF	chr11:71518805-71519082	A549	lung:	n/a	chr11:71518921-71518942
41	CTCF	chr11:71524880-71525030	AG09309	skin:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
42	CTCF	chr11:71524630-71525108	A549	lung:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
43	CTCF	chr11:71552580-71552601	GM13976	blood:	n/a	n/a
44	CTCF	chr11:71524860-71525010	AG09309	skin:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
45	CTCF	chr11:71513891-71513972	GM20000	blood:	n/a	n/a
46	CTCF	chr11:71524579-71525282	A549	lung:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
47	CTCF	chr11:71524900-71525050	HEEpiC	esophagus:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
48	CTCF	chr11:71524844-71525100	MCF-7	breast:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
49	CTCF	chr11:71524840-71525083	H1-hESC	embryonic stem cell:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
50	CTCF	chr11:71513768-71513819	Gliobla	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71524971-71525021	SK-N-MC	brain:	n/a
2	chr11:71522461-71522511	ovcar-3	ovarian:	n/a
3	chr11:71524971-71525021	SK-N-MC	brain:	n/a
4	chr11:71522461-71522511	ovcar-3	ovarian:	n/a
5	chr11:71524734-71524784	HCPEpiC	choroid plexus:	n/a
6	chr11:71543471-71543521	AG09309	skin:	n/a
7	chr11:71527895-71527945	AG04449	skin:	fetal
8	chr11:71524971-71525021	GM19239	blood:	n/a
9	chr11:71545243-71545293	AG10803	skin:	n/a
10	chr11:71545243-71545293	HMEC	breast:	n/a
11	chr11:71543471-71543521	U87	brain:	n/a
12	chr11:71524540-71524590	AG10803	skin:	n/a
13	chr11:71524971-71525021	HRCEpiC	kidney:	n/a
14	chr11:71522461-71522511	ProgFib	skin:	n/a
15	chr11:71527895-71527945	HEEpiC	esophagus:	n/a
16	chr11:71524540-71524590	AG04450	lung:	fetal
17	chr11:71524971-71525021	MCF-7	breast:	n/a
18	chr11:71543471-71543521	NHDF-neo	bronchial:	n/a
19	chr11:71543583-71543633	H1-hESC	embryonic stem cell:	embryo
20	chr11:71522461-71522511	SK-N-SH_RA	brain:	n/a
21	chr11:71545243-71545293	NB4	blood:	n/a
22	chr11:71543583-71543633	AG09319	gingival:	n/a
23	chr11:71524500-71524550	GM12892	blood:	n/a
24	chr11:71524971-71525021	H1-hESC	embryonic stem cell:	embryo
25	chr11:71524734-71524784	SKMC	muscle:	n/a
26	chr11:71524971-71525021	AG09319	gingival:	n/a
27	chr11:71524540-71524590	HEK293	kidney:	embryo
28	chr11:71524540-71524590	MCF10A-Er-Src	breast:	n/a
29	chr11:71524852-71524902	NH-A	brain:	n/a
30	chr11:71524734-71524784	GM12892	blood:	n/a
31	chr11:71524734-71524784	T-47D	breast:	n/a
32	chr11:71524971-71525021	HMEC	breast:	n/a
33	chr11:71524540-71524590	NT2-D1	testis:	n/a
34	chr11:71524852-71524902	HCM	heart:	n/a
35	chr11:71524500-71524550	IMR90	lung:	fetal
36	chr11:71524852-71524902	GM19239	blood:	n/a
37	chr11:71524540-71524590	HEEpiC	esophagus:	n/a
38	chr11:71543583-71543633	HCPEpiC	choroid plexus:	n/a
39	chr11:71522461-71522511	HEEpiC	esophagus:	n/a
40	chr11:71524500-71524550	HRE	kidney:	n/a
41	chr11:71543471-71543521	SK-N-SH_RA	brain:	n/a
42	chr11:71527895-71527945	HepG2	liver:	n/a
43	chr11:71527895-71527945	SK-N-SH_RA	brain:	n/a
44	chr11:71522461-71522511	HepG2	liver:	n/a
45	chr11:71545243-71545293	HEK293	kidney:	embryo
46	chr11:71524500-71524550	MCF-7	breast:	n/a
47	chr11:71527895-71527945	Jurkat	blood:	n/a
48	chr11:71524852-71524902	H1-hESC	embryonic stem cell:	embryo
49	chr11:71524971-71525021	IMR90	lung:	fetal
50	chr11:71543583-71543633	IMR90	lung:	fetal

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-849H4.2.1-1	chr11:71527956-71528142	ENSG00000248671.3
2	lnc-RP11-849H4.2.1-1	chr11:71529199-71529284	ENSG00000248671.3
3	lnc-DEFB108B-2	chr11:71548070-71548218	NONHSAT022717
4	lnc-DEFB108B-2	chr11:71548445-71548756	NONHSAT022717
5	lnc-DEFB108B-2	chr11:71545758-71545904	NONHSAT022717
6	lnc-RP11-849H4.2.1-1	chr11:71524389-71524529	NONHSAT022713
7	lnc-RP11-849H4.2.1-1	chr11:71518637-71518702	ENSG00000248671.3
8	lnc-RP11-849H4.2.1-1	chr11:71517696-71518702	NONHSAT022713

Variant related genes	Relation type
DEFB108B	TF binding region
ENSG00000248671	TF binding region
ZNF705E	TF binding region
ENSG00000264091	TF binding region
ALG1L9P	TF binding region
DEFB108B	CpG island
ENSG00000248671	CpG island
ZNF705E	CpG island
ENSG00000264091	CpG island
ALG1L9P	CpG island

Extended variants
information (count: 1509 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1509 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574013416	chr11:71513458-71513459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527609007	chr11:71513467-71513468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559934373	chr11:71513520-71513521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533468388	chr11:71513573-71513574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182564343	chr11:71513585-71513586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369044632	chr11:71513630-71513631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35318470	chr11:71513642-71513643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7113289	chr11:71513664-71513665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs530687440	chr11:71513670-71513671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549284678	chr11:71513692-71513693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7113408	chr11:71513723-71513724	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs537640256	chr11:71513736-71513737	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs546284107	chr11:71513753-71513754	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs370060325	chr11:71513759-71513760	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs186254448	chr11:71513765-71513766	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs113882846	chr11:71513794-71513795	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs550252560	chr11:71513802-71513803	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs537329179	chr11:71513821-71513822	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs556066873	chr11:71513832-71513833	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs573948690	chr11:71513835-71513836	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs541391612	chr11:71513842-71513843	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571611093	chr11:71513843-71513844	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs578118577	chr11:71513844-71513845	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs545540124	chr11:71513850-71513851	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs563314111	chr11:71513865-71513866	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs60442638	chr11:71513871-71513872	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs34010598	chr11:71513874-71513875	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs189836195	chr11:71513918-71513919	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs146381229	chr11:71513925-71513926	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs11235015	chr11:71513940-71513941	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs374132504	chr11:71513950-71513951	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs561280542	chr11:71513957-71513958	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs75172519	chr11:71513987-71513988	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs554180878	chr11:71513992-71513993	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs180787542	chr11:71514003-71514004	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs185542763	chr11:71514015-71514016	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs189989667	chr11:71514038-71514039	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs570935171	chr11:71514043-71514044	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs532058842	chr11:71514046-71514047	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs550295036	chr11:71514047-71514048	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs75653295	chr11:71514056-71514057	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs570141492	chr11:71514069-71514070	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs201738070	chr11:71514084-71514085	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs537698441	chr11:71514102-71514103	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs199563582	chr11:71514103-71514104	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs183431332	chr11:71514118-71514119	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs78267655	chr11:71514125-71514126	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs188489291	chr11:71514131-71514132	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs145366004	chr11:71514137-71514138	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs535353343	chr11:71514166-71514167	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71499200-71515200	Weak transcription	Lung	lung
2	chr11:71499400-71515200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:71499400-71515600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:71499800-71515200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:71500400-71515200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:71500400-71515200	Weak transcription	Fetal Intestine Large	intestine
7	chr11:71500400-71515600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:71500800-71515200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:71506000-71515600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:71506200-71514000	Weak transcription	NHLF	lung
11	chr11:71506400-71515600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:71506600-71515200	Weak transcription	Spleen	Spleen
13	chr11:71506600-71515600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:71508200-71514000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:71508200-71524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:71508800-71524400	Weak transcription	Fetal Intestine Small	intestine
17	chr11:71511600-71514000	Weak transcription	Fetal Stomach	stomach
18	chr11:71511600-71515200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:71511600-71515200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:71511600-71523600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:71511600-71524400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:71511600-71524400	Weak transcription	Brain Angular Gyrus	brain
23	chr11:71512000-71515200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:71512800-71513600	Enhancers	Fetal Muscle Leg	muscle
25	chr11:71512800-71514200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:71513200-71513600	Enhancers	Osteobl	bone
27	chr11:71513200-71514000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:71513400-71513600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:71513600-71515600	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:71514000-71514200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:71514000-71514200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:71515200-71515400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:71515200-71515400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:71515200-71515400	Enhancers	Fetal Muscle Trunk	muscle
35	chr11:71515200-71515400	Enhancers	Spleen	Spleen
36	chr11:71515200-71515800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:71515200-71515800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:71515200-71515800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:71515200-71515800	Enhancers	Fetal Intestine Large	intestine
40	chr11:71515200-71515800	Enhancers	Lung	lung
41	chr11:71515600-71515800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:71515600-71515800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:71515600-71515800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:71515600-71515800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:71515600-71515800	Enhancers	Fetal Muscle Leg	muscle
46	chr11:71515800-71517200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:71522000-71523600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:71523200-71524000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:71523400-71523600	Enhancers	Brain Hippocampus Middle	brain
50	chr11:71523400-71523600	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links