Variant report

Variant	nsv897427
Chromosome Location	chr11:48929921-48987539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:791)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	chr11:48961635-48962346	K562	blood:	n/a	n/a
3	BACH1	chr11:48956270-48956471	K562	blood:	n/a	n/a
4	BATF	chr11:48940420-48940720	GM12878	blood:	n/a	n/a
5	BATF	chr11:48945095-48945310	GM12878	blood:	n/a	n/a
6	BATF	chr11:48935181-48935425	GM12878	blood:	n/a	n/a
7	BATF	chr11:48946780-48947152	GM12878	blood:	n/a	n/a
8	BATF	chr11:48934181-48934321	GM12878	blood:	n/a	n/a
9	BATF	chr11:48985116-48985352	GM12878	blood:	n/a	n/a
10	BATF	chr11:48931968-48932274	GM12878	blood:	n/a	n/a
11	BATF	chr11:48953227-48953611	GM12878	blood:	n/a	n/a
12	BATF	chr11:48934428-48934662	GM12878	blood:	n/a	n/a
13	BATF	chr11:48976038-48976262	GM12878	blood:	n/a	n/a
14	BATF	chr11:48976068-48976336	GM12878	blood:	n/a	n/a
15	BATF	chr11:48955305-48955628	GM12878	blood:	n/a	n/a
16	BATF	chr11:48932107-48932317	GM12878	blood:	n/a	n/a
17	BATF	chr11:48945011-48945390	GM12878	blood:	n/a	n/a
18	BATF	chr11:48985042-48985405	GM12878	blood:	n/a	n/a
19	BATF	chr11:48934117-48934343	GM12878	blood:	n/a	n/a
20	BATF	chr11:48953209-48953631	GM12878	blood:	n/a	n/a
21	BATF	chr11:48946385-48946719	GM12878	blood:	n/a	n/a
22	BATF	chr11:48934446-48934684	GM12878	blood:	n/a	n/a
23	BATF	chr11:48943793-48944288	GM12878	blood:	n/a	n/a
24	BCL11A	chr11:48945083-48945411	GM12878	blood:	n/a	n/a
25	BCL11A	chr11:48946416-48947156	GM12878	blood:	n/a	n/a
26	BCL11A	chr11:48934450-48934655	GM12878	blood:	n/a	n/a
27	BCL11A	chr11:48945083-48945369	GM12878	blood:	n/a	n/a
28	BCL11A	chr11:48953233-48953595	GM12878	blood:	n/a	n/a
29	BCL11A	chr11:48953316-48953636	GM12878	blood:	n/a	n/a
30	BCL11A	chr11:48934158-48934314	GM12878	blood:	n/a	n/a
31	BCL11A	chr11:48976050-48976264	GM12878	blood:	n/a	n/a
32	BCL11A	chr11:48955311-48955544	GM12878	blood:	n/a	n/a
33	BCL11A	chr11:48935779-48936353	GM12878	blood:	n/a	n/a
34	BCL11A	chr11:48955295-48955655	GM12878	blood:	n/a	n/a
35	BCL11A	chr11:48932094-48932265	GM12878	blood:	n/a	n/a
36	BCL11A	chr11:48936607-48937112	GM12878	blood:	n/a	n/a
37	BCL11A	chr11:48932090-48932523	GM12878	blood:	n/a	n/a
38	BCL11A	chr11:48943783-48944180	GM12878	blood:	n/a	n/a
39	BHLHE40	chr11:48953193-48953630	HepG2	liver:	n/a	n/a
40	BHLHE40	chr11:48948266-48948511	HepG2	liver:	n/a	n/a
41	BHLHE40	chr11:48936109-48936382	HepG2	liver:	n/a	n/a
42	BHLHE40	chr11:48958418-48958674	HepG2	liver:	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	chr11:48937795-48937995	HepG2	liver:	n/a	n/a
46	BRCA1	chr11:48956269-48956471	GM12878	blood:	n/a	n/a
47	BRCA1	chr11:48956098-48956483	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr11:48942120-48942457	GM12878	blood:	n/a	n/a
49	CEBPB	chr11:48956269-48956469	K562	blood:	n/a	n/a
50	CEBPB	chr11:48960415-48960521	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48987265-48987315	MCF10A-Er-Src	breast:	n/a
2	chr11:48977834-48977884	HAEpiC	amniotic membrane:	n/a
3	chr11:48977527-48977577	AG09309	skin:	n/a
4	chr11:48977527-48977577	Hepatocyte	liver:	n/a
5	chr11:48977527-48977577	SAEC	small airway:	n/a
6	chr11:48987265-48987315	CMK	blood:	n/a
7	chr11:48977834-48977884	HCT-116	colon:	n/a
8	chr11:48977527-48977577	HCT-116	colon:	n/a
9	chr11:48977527-48977577	LNCaP	prostate:	n/a
10	chr11:48977834-48977884	ECC-1	luminal epithelium:	n/a
11	chr11:48977834-48977884	H1-hESC	embryonic stem cell:	embryo
12	chr11:48977834-48977884	GM12891	blood:	n/a
13	chr11:48987265-48987315	SKMC	muscle:	n/a
14	chr11:48977834-48977884	NHBE	bronchial:	n/a
15	chr11:48977834-48977884	NB4	blood:	n/a
16	chr11:48987265-48987315	SAEC	small airway:	n/a
17	chr11:48987265-48987315	A549	lung:	n/a
18	chr11:48987265-48987315	BE2_C	brain:	n/a
19	chr11:48977834-48977884	CMK	blood:	n/a
20	chr11:48987265-48987315	HNPCEpiC	eye:	n/a
21	chr11:48987265-48987315	AG04450	lung:	fetal
22	chr11:48977834-48977884	SKMC	muscle:	n/a
23	chr11:48987265-48987315	AoSMC	blood vessel:	n/a
24	chr11:48977834-48977884	Hepatocyte	liver:	n/a
25	chr11:48987265-48987315	NT2-D1	testis:	n/a
26	chr11:48987265-48987315	HIPEpiC	eye:	n/a
27	chr11:48977527-48977577	SK-N-SH_RA	brain:	n/a
28	chr11:48987265-48987315	ProgFib	skin:	n/a
29	chr11:48987265-48987315	NHDF-neo	bronchial:	n/a
30	chr11:48977527-48977577	SK-N-SH	brain:	n/a
31	chr11:48977834-48977884	AG04450	lung:	fetal
32	chr11:48987265-48987315	GM12891	blood:	n/a
33	chr11:48987265-48987315	AG09309	skin:	n/a
34	chr11:48977834-48977884	HCM	heart:	n/a
35	chr11:48977527-48977577	BE2_C	brain:	n/a
36	chr11:48977834-48977884	AG10803	skin:	n/a
37	chr11:48977834-48977884	LNCaP	prostate:	n/a
38	chr11:48977834-48977884	HL-60	blood:	n/a
39	chr11:48977527-48977577	U87	brain:	n/a
40	chr11:48977527-48977577	GM19239	blood:	n/a
41	chr11:48977527-48977577	HepG2	liver:	n/a
42	chr11:48977527-48977577	HMEC	breast:	n/a
43	chr11:48977527-48977577	MCF-7	breast:	n/a
44	chr11:48987265-48987315	HRPEpiC	eye:	n/a
45	chr11:48987265-48987315	IMR90	lung:	fetal
46	chr11:48977527-48977577	ovcar-3	ovarian:	n/a
47	chr11:48977834-48977884	HepG2	liver:	n/a
48	chr11:48987265-48987315	HCT-116	colon:	n/a
49	chr11:48977834-48977884	GM06990	blood:	n/a
50	chr11:48977834-48977884	NHDF-neo	bronchial:	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-AC084851.1-2	chr11:48981775-48981855	NONHSAT021303
2	lnc-AC084851.1-2	chr11:48981480-48981636	NONHSAT021303
3	lnc-AC084851.1-2	chr11:48982485-48982577	NONHSAT021303
4	lnc-AC084851.1-4	chr11:48929840-48930498	NONHSAT021302
5	lnc-AC084851.1-2	chr11:48983254-48983362	NONHSAT021303

No data

Variant related genes	Relation type
ENSG00000254517	TF binding region
TRIM51CP	TF binding region
ENSG00000254517	CpG island
TRIM51CP	CpG island

Extended variants
information (count: 4330 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:4330 , 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	rs7128621	chr11:48929921-48929922	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551856373	chr11:48929930-48929931	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs141988540	chr11:48929938-48929939	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs556098519	chr11:48929939-48929940	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs568844632	chr11:48929975-48929976	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs187649026	chr11:48929990-48929991	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs535408818	chr11:48930013-48930014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs555235404	chr11:48930014-48930015	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs574529317	chr11:48930035-48930036	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs533920945	chr11:48930060-48930061	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs112183184	chr11:48930070-48930071	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs577284145	chr11:48930076-48930077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs546238535	chr11:48930078-48930079	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs562944134	chr11:48930093-48930094	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs576706768	chr11:48930113-48930114	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs542585747	chr11:48930124-48930125	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs7128675	chr11:48930132-48930133	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7128973	chr11:48930147-48930148	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs61896665	chr11:48930166-48930167	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564073502	chr11:48930184-48930185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs568308023	chr11:48930185-48930186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs532892274	chr11:48930186-48930187	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs549799446	chr11:48930188-48930189	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs201968519	chr11:48930209-48930210	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs535258631	chr11:48930248-48930249	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs575200581	chr11:48930249-48930250	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs139646509	chr11:48930270-48930271	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs192856510	chr11:48930273-48930274	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs534885174	chr11:48930290-48930291	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs553889409	chr11:48930305-48930306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs115190417	chr11:48930307-48930308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs184779587	chr11:48930312-48930313	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs187379682	chr11:48930314-48930315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs192320967	chr11:48930323-48930324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs542419572	chr11:48930326-48930327	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs562235418	chr11:48930330-48930331	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs572790941	chr11:48930355-48930356	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs184906025	chr11:48930366-48930367	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs374844713	chr11:48930377-48930378	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs372779610	chr11:48930381-48930382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs368210292	chr11:48930404-48930405	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs563925937	chr11:48930415-48930416	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs115538006	chr11:48930417-48930418	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs144193070	chr11:48930459-48930460	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs553966036	chr11:48930481-48930482	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs10769516	chr11:48930487-48930488	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528929894	chr11:48930495-48930496	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs548782812	chr11:48930521-48930522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565498307	chr11:48930561-48930562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534615973	chr11:48930564-48930565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48930400-48935800	Weak transcription	K562	blood
2	chr11:48931400-48933600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:48932200-48934000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr11:48932400-48932800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
5	chr11:48932400-48932800	Active TSS	Aorta	Aorta
6	chr11:48932400-48933000	ZNF genes & repeats	Liver	Liver
7	chr11:48932600-48932800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr11:48932600-48932800	ZNF genes & repeats	HUVEC	blood vessel
9	chr11:48932600-48933000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:48932800-48933200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:48932800-48936200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:48933200-48935400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:48934200-48939800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:48935200-48947600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr11:48935400-48935800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:48935600-48936400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr11:48935600-48943800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:48935800-48936400	ZNF genes & repeats	K562	blood
19	chr11:48935800-48942400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
20	chr11:48936000-48936600	ZNF genes & repeats	HUVEC	blood vessel
21	chr11:48936000-48936600	ZNF genes & repeats	NH-A	brain
22	chr11:48936200-48936600	ZNF genes & repeats	HMEC	breast
23	chr11:48936400-48949200	Weak transcription	K562	blood
24	chr11:48936600-48940600	Weak transcription	NH-A	brain
25	chr11:48937400-48939000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr11:48938000-48949200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr11:48938200-48938400	ZNF genes & repeats	Left Ventricle	heart
28	chr11:48938200-48938400	ZNF genes & repeats	HUVEC	blood vessel
29	chr11:48938400-48939400	Weak transcription	HUVEC	blood vessel
30	chr11:48939400-48939800	ZNF genes & repeats	HUVEC	blood vessel
31	chr11:48940000-48940400	Active TSS	Small Intestine	intestine
32	chr11:48943200-48944000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr11:48947600-48948400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:48947600-48948400	ZNF genes & repeats	HUVEC	blood vessel
35	chr11:48949000-48949200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr11:48953000-48954400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:48953000-48959800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr11:48953200-48959800	Weak transcription	K562	blood
39	chr11:48955000-48959000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr11:48955200-48955600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:48956200-48963400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr11:48956600-48964400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:48957400-48958800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:48957800-48958400	ZNF genes & repeats	HUVEC	blood vessel
45	chr11:48957800-48959000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:48958000-48958200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr11:48958000-48958400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr11:48958400-48959000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:48959000-48960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:48959200-48959600	ZNF genes & repeats	HUVEC	blood vessel

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