Variant report

Variant	nsv972013
Chromosome Location	chr11:48916474-48973895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:812)
CpG islands
(count:549)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:812 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:48940082-48940286	K562	blood:	n/a	n/a
2	BACH1	chr11:48956270-48956471	K562	blood:	n/a	n/a
3	BACH1	chr11:48961635-48962346	K562	blood:	n/a	n/a
4	BATF	chr11:48934446-48934684	GM12878	blood:	n/a	n/a
5	BATF	chr11:48953227-48953611	GM12878	blood:	n/a	n/a
6	BATF	chr11:48940420-48940720	GM12878	blood:	n/a	n/a
7	BATF	chr11:48955305-48955628	GM12878	blood:	n/a	n/a
8	BATF	chr11:48932107-48932317	GM12878	blood:	n/a	n/a
9	BATF	chr11:48934117-48934343	GM12878	blood:	n/a	n/a
10	BATF	chr11:48945095-48945310	GM12878	blood:	n/a	n/a
11	BATF	chr11:48935181-48935425	GM12878	blood:	n/a	n/a
12	BATF	chr11:48946780-48947152	GM12878	blood:	n/a	n/a
13	BATF	chr11:48946385-48946719	GM12878	blood:	n/a	n/a
14	BATF	chr11:48945011-48945390	GM12878	blood:	n/a	n/a
15	BATF	chr11:48943793-48944288	GM12878	blood:	n/a	n/a
16	BATF	chr11:48953209-48953631	GM12878	blood:	n/a	n/a
17	BATF	chr11:48934428-48934662	GM12878	blood:	n/a	n/a
18	BATF	chr11:48934181-48934321	GM12878	blood:	n/a	n/a
19	BATF	chr11:48916618-48916954	GM12878	blood:	n/a	chr11:48916904-48916914
20	BATF	chr11:48916722-48917006	GM12878	blood:	n/a	chr11:48916904-48916914
21	BATF	chr11:48931968-48932274	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:48934158-48934314	GM12878	blood:	n/a	n/a
23	BCL11A	chr11:48946416-48947156	GM12878	blood:	n/a	n/a
24	BCL11A	chr11:48943783-48944180	GM12878	blood:	n/a	n/a
25	BCL11A	chr11:48932094-48932265	GM12878	blood:	n/a	n/a
26	BCL11A	chr11:48935779-48936353	GM12878	blood:	n/a	n/a
27	BCL11A	chr11:48936607-48937112	GM12878	blood:	n/a	n/a
28	BCL11A	chr11:48953316-48953636	GM12878	blood:	n/a	n/a
29	BCL11A	chr11:48932090-48932523	GM12878	blood:	n/a	n/a
30	BCL11A	chr11:48945083-48945411	GM12878	blood:	n/a	n/a
31	BCL11A	chr11:48945083-48945369	GM12878	blood:	n/a	n/a
32	BCL11A	chr11:48934450-48934655	GM12878	blood:	n/a	n/a
33	BCL11A	chr11:48953233-48953595	GM12878	blood:	n/a	n/a
34	BCL11A	chr11:48955295-48955655	GM12878	blood:	n/a	n/a
35	BCL11A	chr11:48916622-48916957	GM12878	blood:	n/a	n/a
36	BCL11A	chr11:48955311-48955544	GM12878	blood:	n/a	n/a
37	BHLHE40	chr11:48948266-48948511	HepG2	liver:	n/a	n/a
38	BHLHE40	chr11:48936109-48936382	HepG2	liver:	n/a	n/a
39	BHLHE40	chr11:48958418-48958674	HepG2	liver:	n/a	n/a
40	BHLHE40	chr11:48953193-48953630	HepG2	liver:	n/a	n/a
41	BRCA1	chr11:48956098-48956483	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr11:48942120-48942457	GM12878	blood:	n/a	n/a
43	BRCA1	chr11:48960588-48960655	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr11:48937626-48937825	GM12878	blood:	n/a	n/a
45	BRCA1	chr11:48956269-48956471	GM12878	blood:	n/a	n/a
46	BRCA1	chr11:48937795-48937995	HepG2	liver:	n/a	n/a
47	CEBPB	chr11:48956269-48956469	K562	blood:	n/a	n/a
48	CEBPB	chr11:48960415-48960521	K562	blood:	n/a	n/a
49	CEBPD	chr11:48932315-48932712	K562	blood:	n/a	n/a
50	CEBPD	chr11:48953317-48953723	K562	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48922271-48922321	AG09319	gingival:	n/a
2	chr11:48922269-48922319	HepG2	liver:	n/a
3	chr11:48922271-48922321	HIPEpiC	eye:	n/a
4	chr11:48923577-48923627	GM12891	blood:	n/a
5	chr11:48923577-48923627	A549	lung:	n/a
6	chr11:48922271-48922321	GM19239	blood:	n/a
7	chr11:48922674-48922724	SKMC	muscle:	n/a
8	chr11:48923577-48923627	AG09319	gingival:	n/a
9	chr11:48922674-48922724	Jurkat	blood:	n/a
10	chr11:48923577-48923627	GM12878	blood:	n/a
11	chr11:48922674-48922724	ProgFib	skin:	n/a
12	chr11:48922269-48922319	HRE	kidney:	n/a
13	chr11:48922741-48922791	HEK293	kidney:	embryo
14	chr11:48923577-48923627	HRE	kidney:	n/a
15	chr11:48922741-48922791	NT2-D1	testis:	n/a
16	chr11:48923668-48923718	Hepatocyte	liver:	n/a
17	chr11:48922674-48922724	HCT-116	colon:	n/a
18	chr11:48923577-48923627	HepG2	liver:	n/a
19	chr11:48922271-48922321	HNPCEpiC	eye:	n/a
20	chr11:48922674-48922724	AG10803	skin:	n/a
21	chr11:48922674-48922724	GM12891	blood:	n/a
22	chr11:48923668-48923718	ECC-1	luminal epithelium:	n/a
23	chr11:48922269-48922319	AG04450	lung:	fetal
24	chr11:48922269-48922319	Hepatocyte	liver:	n/a
25	chr11:48922035-48922085	MCF10A-Er-Src	breast:	n/a
26	chr11:48922674-48922724	SK-N-SH	brain:	n/a
27	chr11:48923668-48923718	LNCaP	prostate:	n/a
28	chr11:48923577-48923627	IMR90	lung:	fetal
29	chr11:48922269-48922319	NHDF-neo	bronchial:	n/a
30	chr11:48923577-48923627	T-47D	breast:	n/a
31	chr11:48922741-48922791	Jurkat	blood:	n/a
32	chr11:48923392-48923442	SK-N-MC	brain:	n/a
33	chr11:48922271-48922321	HCM	heart:	n/a
34	chr11:48922674-48922724	PFSK-1	brain:	n/a
35	chr11:48923577-48923627	AG04450	lung:	fetal
36	chr11:48922674-48922724	HRCEpiC	kidney:	n/a
37	chr11:48923668-48923718	NH-A	brain:	n/a
38	chr11:48922271-48922321	HMEC	breast:	n/a
39	chr11:48924804-48924854	HPAEpiC	pulmonary alveolar:	n/a
40	chr11:48922035-48922085	HRE	kidney:	n/a
41	chr11:48924804-48924854	GM06990	blood:	n/a
42	chr11:48922269-48922319	NHBE	bronchial:	n/a
43	chr11:48922674-48922724	HIPEpiC	eye:	n/a
44	chr11:48923577-48923627	LNCaP	prostate:	n/a
45	chr11:48922674-48922724	MCF10A-Er-Src	breast:	n/a
46	chr11:48923392-48923442	HCPEpiC	choroid plexus:	n/a
47	chr11:48922269-48922319	HEEpiC	esophagus:	n/a
48	chr11:48924804-48924854	Jurkat	blood:	n/a
49	chr11:48922741-48922791	AG09309	skin:	n/a
50	chr11:48922271-48922321	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121484902..121485419-chr11:48946286..48946806,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-5	chr11:48919540-48919822	NONHSAT021301
2	lnc-AC084851.1-5	chr11:48919940-48920255	NONHSAT021301
3	lnc-AC084851.1-5	chr11:48916513-48916636	NONHSAT021301
4	lnc-AC084851.1-4	chr11:48929840-48930498	NONHSAT021302
5	lnc-AC084851.1-4	chr11:48928655-48928750	NONHSAT021302

No data

Variant related genes	Relation type
ENSG00000255527	TF binding region
TRIM51CP	TF binding region
ENSG00000254728	TF binding region
ENSG00000255527	CpG island
TRIM51CP	CpG island
ENSG00000254728	CpG island

Extended variants
information (count: 4346 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:4346 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200457504	chr11:48919717-48919718	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs111827107	chr11:48920009-48920010	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs373888211	chr11:48921602-48921603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs183539674	chr11:48921632-48921633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566589790	chr11:48921636-48921637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187698063	chr11:48921643-48921644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192366964	chr11:48921653-48921654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569091777	chr11:48921666-48921667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374414963	chr11:48921681-48921682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538187680	chr11:48921696-48921697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs555240406	chr11:48921699-48921700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549572254	chr11:48921710-48921711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs148600866	chr11:48921724-48921725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574351774	chr11:48921737-48921738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs540185080	chr11:48921771-48921772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs58490669	chr11:48921850-48921851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs142062157	chr11:48921852-48921853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs545893123	chr11:48921855-48921856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs367922149	chr11:48921856-48921857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs553731035	chr11:48921869-48921870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs531527891	chr11:48921870-48921871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs541807813	chr11:48921872-48921873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs561973102	chr11:48921874-48921875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs183367407	chr11:48921878-48921879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs546942691	chr11:48921891-48921892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs566505181	chr11:48921904-48921905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs532501621	chr11:48921905-48921906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs552241194	chr11:48921907-48921908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569155162	chr11:48921909-48921910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs538388979	chr11:48921911-48921912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs554971571	chr11:48921918-48921919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs113866923	chr11:48921943-48921944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533575528	chr11:48921945-48921946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553759892	chr11:48921974-48921975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs576893155	chr11:48921990-48921991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs545962390	chr11:48921997-48921998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556293728	chr11:48922021-48922022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186477589	chr11:48922029-48922030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541969958	chr11:48922030-48922031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs561852622	chr11:48922033-48922034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs11040127	chr11:48922062-48922063	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551950020	chr11:48922072-48922073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs113394849	chr11:48922076-48922077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs560152586	chr11:48922078-48922079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532367120	chr11:48922079-48922080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376442728	chr11:48922091-48922092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs115556211	chr11:48922093-48922094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs562601303	chr11:48922094-48922095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs531826786	chr11:48922096-48922097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs367767513	chr11:48922097-48922098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48921600-48922600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:48930400-48935800	Weak transcription	K562	blood
3	chr11:48931400-48933600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr11:48932200-48934000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr11:48932400-48932800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
6	chr11:48932400-48932800	Active TSS	Aorta	Aorta
7	chr11:48932400-48933000	ZNF genes & repeats	Liver	Liver
8	chr11:48932600-48932800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr11:48932600-48932800	ZNF genes & repeats	HUVEC	blood vessel
10	chr11:48932600-48933000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:48932800-48933200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:48932800-48936200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:48933200-48935400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:48934200-48939800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:48935200-48947600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr11:48935400-48935800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:48935600-48936400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr11:48935600-48943800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:48935800-48936400	ZNF genes & repeats	K562	blood
20	chr11:48935800-48942400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr11:48936000-48936600	ZNF genes & repeats	HUVEC	blood vessel
22	chr11:48936000-48936600	ZNF genes & repeats	NH-A	brain
23	chr11:48936200-48936600	ZNF genes & repeats	HMEC	breast
24	chr11:48936400-48949200	Weak transcription	K562	blood
25	chr11:48936600-48940600	Weak transcription	NH-A	brain
26	chr11:48937400-48939000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr11:48938000-48949200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr11:48938200-48938400	ZNF genes & repeats	Left Ventricle	heart
29	chr11:48938200-48938400	ZNF genes & repeats	HUVEC	blood vessel
30	chr11:48938400-48939400	Weak transcription	HUVEC	blood vessel
31	chr11:48939400-48939800	ZNF genes & repeats	HUVEC	blood vessel
32	chr11:48940000-48940400	Active TSS	Small Intestine	intestine
33	chr11:48943200-48944000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr11:48947600-48948400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:48947600-48948400	ZNF genes & repeats	HUVEC	blood vessel
36	chr11:48949000-48949200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr11:48953000-48954400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:48953000-48959800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr11:48953200-48959800	Weak transcription	K562	blood
40	chr11:48955000-48959000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
41	chr11:48955200-48955600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:48956200-48963400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr11:48956600-48964400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:48957400-48958800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:48957800-48958400	ZNF genes & repeats	HUVEC	blood vessel
46	chr11:48957800-48959000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:48958000-48958200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr11:48958000-48958400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr11:48958400-48959000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:48959000-48960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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