Variant report

Variant	nsv897442
Chromosome Location	chr11:48933763-49027070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:807)
CpG islands
(count:794)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:807 , 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	chr11:48945095-48945310	GM12878	blood:	n/a	n/a
5	BATF	chr11:48953227-48953611	GM12878	blood:	n/a	n/a
6	BATF	chr11:48934181-48934321	GM12878	blood:	n/a	n/a
7	BATF	chr11:48943793-48944288	GM12878	blood:	n/a	n/a
8	BATF	chr11:48940420-48940720	GM12878	blood:	n/a	n/a
9	BATF	chr11:48985042-48985405	GM12878	blood:	n/a	n/a
10	BATF	chr11:48935181-48935425	GM12878	blood:	n/a	n/a
11	BATF	chr11:48976068-48976336	GM12878	blood:	n/a	n/a
12	BATF	chr11:48946385-48946719	GM12878	blood:	n/a	n/a
13	BATF	chr11:48946780-48947152	GM12878	blood:	n/a	n/a
14	BATF	chr11:48934428-48934662	GM12878	blood:	n/a	n/a
15	BATF	chr11:48985116-48985352	GM12878	blood:	n/a	n/a
16	BATF	chr11:48934117-48934343	GM12878	blood:	n/a	n/a
17	BATF	chr11:48955305-48955628	GM12878	blood:	n/a	n/a
18	BATF	chr11:48945011-48945390	GM12878	blood:	n/a	n/a
19	BATF	chr11:48953209-48953631	GM12878	blood:	n/a	n/a
20	BATF	chr11:48934446-48934684	GM12878	blood:	n/a	n/a
21	BATF	chr11:48976038-48976262	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:48946416-48947156	GM12878	blood:	n/a	n/a
23	BCL11A	chr11:48953316-48953636	GM12878	blood:	n/a	n/a
24	BCL11A	chr11:48943783-48944180	GM12878	blood:	n/a	n/a
25	BCL11A	chr11:48936607-48937112	GM12878	blood:	n/a	n/a
26	BCL11A	chr11:48955295-48955655	GM12878	blood:	n/a	n/a
27	BCL11A	chr11:48945083-48945369	GM12878	blood:	n/a	n/a
28	BCL11A	chr11:48976050-48976264	GM12878	blood:	n/a	n/a
29	BCL11A	chr11:48934158-48934314	GM12878	blood:	n/a	n/a
30	BCL11A	chr11:48953233-48953595	GM12878	blood:	n/a	n/a
31	BCL11A	chr11:48955311-48955544	GM12878	blood:	n/a	n/a
32	BCL11A	chr11:48945083-48945411	GM12878	blood:	n/a	n/a
33	BCL11A	chr11:48934450-48934655	GM12878	blood:	n/a	n/a
34	BCL11A	chr11:48935779-48936353	GM12878	blood:	n/a	n/a
35	BCL3	chr11:48990838-48991105	GM12878	blood:	n/a	n/a
36	BHLHE40	chr11:48953193-48953630	HepG2	liver:	n/a	n/a
37	BHLHE40	chr11:48958418-48958674	HepG2	liver:	n/a	n/a
38	BHLHE40	chr11:48936109-48936382	HepG2	liver:	n/a	n/a
39	BHLHE40	chr11:48948266-48948511	HepG2	liver:	n/a	n/a
40	BRCA1	chr11:48937626-48937825	GM12878	blood:	n/a	n/a
41	BRCA1	chr11:48937795-48937995	HepG2	liver:	n/a	n/a
42	BRCA1	chr11:48956098-48956483	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr11:48960588-48960655	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr11:48942120-48942457	GM12878	blood:	n/a	n/a
45	BRCA1	chr11:48956269-48956471	GM12878	blood:	n/a	n/a
46	CEBPB	chr11:48960415-48960521	K562	blood:	n/a	n/a
47	CEBPB	chr11:49026617-49026956	Hela-S3	cervix:	n/a	chr11:49026677-49026686 chr11:49026675-49026688 chr11:49026677-49026686 chr11:49026677-49026686 chr11:49026675-49026686 chr11:49026677-49026688 chr11:49026728-49026739 chr11:49026677-49026686
48	CEBPB	chr11:49026623-49026812	K562	blood:	n/a	chr11:49026677-49026686 chr11:49026675-49026688 chr11:49026677-49026686 chr11:49026677-49026686 chr11:49026675-49026686 chr11:49026677-49026688 chr11:49026728-49026739 chr11:49026677-49026686
49	CEBPB	chr11:48994051-48994082	HepG2	liver:	n/a	n/a
50	CEBPB	chr11:49026601-49026811	HepG2	liver:	n/a	chr11:49026677-49026686 chr11:49026675-49026688 chr11:49026677-49026686 chr11:49026677-49026686 chr11:49026675-49026686 chr11:49026677-49026688 chr11:49026728-49026739 chr11:49026677-49026686

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49017551-49017601	NHDF-neo	bronchial:	n/a
2	chr11:49017551-49017601	NHDF-neo	bronchial:	n/a
3	chr11:48990211-48990261	GM12878	blood:	n/a
4	chr11:48991619-48991669	SK-N-SH_RA	brain:	n/a
5	chr11:48977527-48977577	SAEC	small airway:	n/a
6	chr11:48991619-48991669	MCF-7	breast:	n/a
7	chr11:48989769-48989819	RPTEC	kidney:	n/a
8	chr11:48990211-48990261	A549	lung:	n/a
9	chr11:49003361-49003411	GM12892	blood:	n/a
10	chr11:48977527-48977577	GM12891	blood:	n/a
11	chr11:49003527-49003577	GM19239	blood:	n/a
12	chr11:49017551-49017601	HRCEpiC	kidney:	n/a
13	chr11:48977527-48977577	IMR90	lung:	fetal
14	chr11:48990484-48990534	GM12891	blood:	n/a
15	chr11:49003361-49003411	HAEpiC	amniotic membrane:	n/a
16	chr11:48991619-48991669	Hepatocyte	liver:	n/a
17	chr11:49003527-49003577	SK-N-SH_RA	brain:	n/a
18	chr11:49017551-49017601	SAEC	small airway:	n/a
19	chr11:48990211-48990261	AG09319	gingival:	n/a
20	chr11:48987265-48987315	T-47D	breast:	n/a
21	chr11:48991619-48991669	HRPEpiC	eye:	n/a
22	chr11:49017551-49017601	GM06990	blood:	n/a
23	chr11:48990211-48990261	HEK293	kidney:	embryo
24	chr11:48990484-48990534	HIPEpiC	eye:	n/a
25	chr11:48994113-48994163	Hepatocyte	liver:	n/a
26	chr11:49017551-49017601	ProgFib	skin:	n/a
27	chr11:48990484-48990534	PFSK-1	brain:	n/a
28	chr11:48991619-48991669	GM19239	blood:	n/a
29	chr11:48994113-48994163	AG09309	skin:	n/a
30	chr11:48990330-48990380	HUVEC	blood vessel:	n/a
31	chr11:48990211-48990261	HEEpiC	esophagus:	n/a
32	chr11:48990484-48990534	HEEpiC	esophagus:	n/a
33	chr11:48990211-48990261	HL-60	blood:	n/a
34	chr11:49003361-49003411	U87	brain:	n/a
35	chr11:48990484-48990534	GM12892	blood:	n/a
36	chr11:48990330-48990380	ProgFib	skin:	n/a
37	chr11:48990211-48990261	HRCEpiC	kidney:	n/a
38	chr11:49016314-49016364	A549	lung:	n/a
39	chr11:49017551-49017601	HUVEC	blood vessel:	n/a
40	chr11:49003361-49003411	GM06990	blood:	n/a
41	chr11:48977834-48977884	PFSK-1	brain:	n/a
42	chr11:49003361-49003411	NHBE	bronchial:	n/a
43	chr11:48990211-48990261	HCT-116	colon:	n/a
44	chr11:48989769-48989819	PrEC	prostate:	n/a
45	chr11:48987265-48987315	GM19239	blood:	n/a
46	chr11:48977834-48977884	HepG2	liver:	n/a
47	chr11:48977834-48977884	AG10803	skin:	n/a
48	chr11:48990211-48990261	BJ	skin:	n/a
49	chr11:48987265-48987315	SK-N-SH	brain:	n/a
50	chr11:48994113-48994163	AG10803	skin:	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:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-2	chr11:48981480-48981636	NONHSAT021303
2	lnc-AC084851.1-2	chr11:48982485-48982577	NONHSAT021303
3	lnc-AC084851.1-2	chr11:48981775-48981855	NONHSAT021303
4	lnc-AC084851.1-2	chr11:48983254-48983362	NONHSAT021303

No data

Variant related genes	Relation type
TRIM53CP	TF binding region
ENSG00000254517	TF binding region
TRIM51CP	TF binding region
TRIM51GP	TF binding region
TRIM53CP	CpG island
ENSG00000254517	CpG island
TRIM51CP	CpG island
TRIM51GP	CpG island

Extended variants
information (count: 3999 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:3999 , 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	rs201160157	chr11:48933766-48933767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs111752706	chr11:48933771-48933772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs369784255	chr11:48933774-48933775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs138445557	chr11:48933776-48933777	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143886829	chr11:48933783-48933784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs151014792	chr11:48933797-48933798	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs145701271	chr11:48933805-48933806	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs6485927	chr11:48933809-48933810	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191186961	chr11:48933811-48933812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192074868	chr11:48933813-48933814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs546248837	chr11:48933816-48933817	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs183312490	chr11:48933822-48933823	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs563799446	chr11:48933833-48933834	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs549035353	chr11:48933855-48933856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565986825	chr11:48933865-48933866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs11819834	chr11:48933879-48933880	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs7937086	chr11:48933896-48933897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529691628	chr11:48933901-48933902	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs11529466	chr11:48933905-48933906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs61896678	chr11:48933909-48933910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539983451	chr11:48933912-48933913	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs61896679	chr11:48933915-48933916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs556683285	chr11:48933918-48933919	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs559283542	chr11:48933921-48933922	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142708437	chr11:48933923-48933924	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200917470	chr11:48933925-48933926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201649080	chr11:48933933-48933934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs139574412	chr11:48933935-48933936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs111417166	chr11:48933939-48933940	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs555652287	chr11:48933963-48933964	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184667549	chr11:48933969-48933970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534965231	chr11:48933994-48933995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs557379383	chr11:48933996-48933997	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs11040133	chr11:48933997-48933998	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543148051	chr11:48934007-48934008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563022831	chr11:48934010-48934011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144190270	chr11:48934031-48934032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111626158	chr11:48934037-48934038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140560839	chr11:48934038-48934039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573630454	chr11:48934061-48934062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187582987	chr11:48934075-48934076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542825970	chr11:48934091-48934092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559244515	chr11:48934094-48934095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528392182	chr11:48934095-48934096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551382081	chr11:48934096-48934097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564511719	chr11:48934141-48934142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10769519	chr11:48934147-48934148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10769520	chr11:48934148-48934149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570184603	chr11:48934154-48934155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145534230	chr11:48934155-48934156	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48930400-48935800	Weak transcription	K562	blood
2	chr11:48932200-48934000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:48932800-48936200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:48933200-48935400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:48934200-48939800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:48935200-48947600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr11:48935400-48935800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:48935600-48936400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr11:48935600-48943800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:48935800-48936400	ZNF genes & repeats	K562	blood
11	chr11:48935800-48942400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr11:48936000-48936600	ZNF genes & repeats	HUVEC	blood vessel
13	chr11:48936000-48936600	ZNF genes & repeats	NH-A	brain
14	chr11:48936200-48936600	ZNF genes & repeats	HMEC	breast
15	chr11:48936400-48949200	Weak transcription	K562	blood
16	chr11:48936600-48940600	Weak transcription	NH-A	brain
17	chr11:48937400-48939000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr11:48938000-48949200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr11:48938200-48938400	ZNF genes & repeats	Left Ventricle	heart
20	chr11:48938200-48938400	ZNF genes & repeats	HUVEC	blood vessel
21	chr11:48938400-48939400	Weak transcription	HUVEC	blood vessel
22	chr11:48939400-48939800	ZNF genes & repeats	HUVEC	blood vessel
23	chr11:48940000-48940400	Active TSS	Small Intestine	intestine
24	chr11:48943200-48944000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr11:48947600-48948400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:48947600-48948400	ZNF genes & repeats	HUVEC	blood vessel
27	chr11:48949000-48949200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr11:48953000-48954400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:48953000-48959800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr11:48953200-48959800	Weak transcription	K562	blood
31	chr11:48955000-48959000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr11:48955200-48955600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:48956200-48963400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr11:48956600-48964400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:48957400-48958800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:48957800-48958400	ZNF genes & repeats	HUVEC	blood vessel
37	chr11:48957800-48959000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:48958000-48958200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr11:48958000-48958400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr11:48958400-48959000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:48959000-48960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:48959200-48959600	ZNF genes & repeats	HUVEC	blood vessel
43	chr11:48959400-48960400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr11:48961600-48962000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr11:48966800-48967600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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