Variant report

Variant	nsv897453
Chromosome Location	chr11:48937824-48987539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:616)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr11:48946780-48947152	GM12878	blood:	n/a	n/a
5	BATF	chr11:48940420-48940720	GM12878	blood:	n/a	n/a
6	BATF	chr11:48953227-48953611	GM12878	blood:	n/a	n/a
7	BATF	chr11:48955305-48955628	GM12878	blood:	n/a	n/a
8	BATF	chr11:48976038-48976262	GM12878	blood:	n/a	n/a
9	BATF	chr11:48945095-48945310	GM12878	blood:	n/a	n/a
10	BATF	chr11:48953209-48953631	GM12878	blood:	n/a	n/a
11	BATF	chr11:48943793-48944288	GM12878	blood:	n/a	n/a
12	BATF	chr11:48946385-48946719	GM12878	blood:	n/a	n/a
13	BATF	chr11:48985042-48985405	GM12878	blood:	n/a	n/a
14	BATF	chr11:48985116-48985352	GM12878	blood:	n/a	n/a
15	BATF	chr11:48945011-48945390	GM12878	blood:	n/a	n/a
16	BATF	chr11:48976068-48976336	GM12878	blood:	n/a	n/a
17	BCL11A	chr11:48943783-48944180	GM12878	blood:	n/a	n/a
18	BCL11A	chr11:48945083-48945411	GM12878	blood:	n/a	n/a
19	BCL11A	chr11:48946416-48947156	GM12878	blood:	n/a	n/a
20	BCL11A	chr11:48953316-48953636	GM12878	blood:	n/a	n/a
21	BCL11A	chr11:48945083-48945369	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:48953233-48953595	GM12878	blood:	n/a	n/a
23	BCL11A	chr11:48955295-48955655	GM12878	blood:	n/a	n/a
24	BCL11A	chr11:48976050-48976264	GM12878	blood:	n/a	n/a
25	BCL11A	chr11:48955311-48955544	GM12878	blood:	n/a	n/a
26	BHLHE40	chr11:48958418-48958674	HepG2	liver:	n/a	n/a
27	BHLHE40	chr11:48953193-48953630	HepG2	liver:	n/a	n/a
28	BHLHE40	chr11:48948266-48948511	HepG2	liver:	n/a	n/a
29	BRCA1	chr11:48960588-48960655	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr11:48942120-48942457	GM12878	blood:	n/a	n/a
31	BRCA1	chr11:48937626-48937825	GM12878	blood:	n/a	n/a
32	BRCA1	chr11:48956269-48956471	GM12878	blood:	n/a	n/a
33	BRCA1	chr11:48956098-48956483	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr11:48937795-48937995	HepG2	liver:	n/a	n/a
35	CEBPB	chr11:48960415-48960521	K562	blood:	n/a	n/a
36	CEBPB	chr11:48956269-48956469	K562	blood:	n/a	n/a
37	CEBPD	chr11:48953317-48953723	K562	blood:	n/a	n/a
38	CEBPZ	chr11:48937623-48937998	HepG2	liver:	n/a	n/a
39	CHD1	chr11:48953549-48953581	GM12878	blood:	n/a	n/a
40	CHD2	chr11:48958911-48958925	GM12878	blood:	n/a	n/a
41	CHD2	chr11:48959212-48959412	K562	blood:	n/a	n/a
42	CHD2	chr11:48956269-48956470	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:48966784-48966963	LNCaP	prostate:	n/a	n/a
44	CTCF	chr11:48983139-48983172	GM13976	blood:	n/a	n/a
45	CTCF	chr11:48966763-48966883	LNCaP	prostate:	n/a	n/a
46	CTCF	chr11:48943841-48944139	K562	blood:	n/a	n/a
47	CTCF	chr11:48973716-48973764	Pancreas_OC	pancreas:	n/a	n/a
48	CTCF	chr11:48982340-48982500	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr11:48946801-48947146	K562	blood:	n/a	n/a
50	CTCF	chr11:48946379-48946690	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	chr11:48977527-48977577	SK-N-SH	brain:	n/a
2	chr11:48987265-48987315	MCF10A-Er-Src	breast:	n/a
3	chr11:48977834-48977884	ovcar-3	ovarian:	n/a
4	chr11:48977834-48977884	HEEpiC	esophagus:	n/a
5	chr11:48977527-48977577	HRPEpiC	eye:	n/a
6	chr11:48977527-48977577	HepG2	liver:	n/a
7	chr11:48977834-48977884	HEK293	kidney:	embryo
8	chr11:48977834-48977884	HRE	kidney:	n/a
9	chr11:48987265-48987315	Hela-S3	cervix:	n/a
10	chr11:48987265-48987315	K562	blood:	n/a
11	chr11:48977834-48977884	HNPCEpiC	eye:	n/a
12	chr11:48977527-48977577	HEEpiC	esophagus:	n/a
13	chr11:48977834-48977884	Caco-2	colon:	n/a
14	chr11:48977527-48977577	ovcar-3	ovarian:	n/a
15	chr11:48987265-48987315	AG04450	lung:	fetal
16	chr11:48987265-48987315	PANC-1	pancreas:	n/a
17	chr11:48987265-48987315	HCPEpiC	choroid plexus:	n/a
18	chr11:48987265-48987315	HUVEC	blood vessel:	n/a
19	chr11:48977834-48977884	NB4	blood:	n/a
20	chr11:48977834-48977884	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:48987265-48987315	SKMC	muscle:	n/a
22	chr11:48977834-48977884	MCF-7	breast:	n/a
23	chr11:48977527-48977577	HNPCEpiC	eye:	n/a
24	chr11:48977834-48977884	Hela-S3	cervix:	n/a
25	chr11:48987265-48987315	ovcar-3	ovarian:	n/a
26	chr11:48987265-48987315	HAEpiC	amniotic membrane:	n/a
27	chr11:48977834-48977884	AG09309	skin:	n/a
28	chr11:48977527-48977577	SKMC	muscle:	n/a
29	chr11:48987265-48987315	MCF-7	breast:	n/a
30	chr11:48977834-48977884	ECC-1	luminal epithelium:	n/a
31	chr11:48977834-48977884	AoSMC	blood vessel:	n/a
32	chr11:48977834-48977884	HRPEpiC	eye:	n/a
33	chr11:48987265-48987315	HCM	heart:	n/a
34	chr11:48977527-48977577	ProgFib	skin:	n/a
35	chr11:48977834-48977884	SK-N-MC	brain:	n/a
36	chr11:48977834-48977884	Jurkat	blood:	n/a
37	chr11:48987265-48987315	Hepatocyte	liver:	n/a
38	chr11:48987265-48987315	HRCEpiC	kidney:	n/a
39	chr11:48977834-48977884	A549	lung:	n/a
40	chr11:48987265-48987315	AoSMC	blood vessel:	n/a
41	chr11:48977834-48977884	GM12892	blood:	n/a
42	chr11:48977527-48977577	Jurkat	blood:	n/a
43	chr11:48977527-48977577	H1-hESC	embryonic stem cell:	embryo
44	chr11:48977834-48977884	HIPEpiC	eye:	n/a
45	chr11:48977834-48977884	HL-60	blood:	n/a
46	chr11:48977834-48977884	AG04450	lung:	fetal
47	chr11:48987265-48987315	NHBE	bronchial:	n/a
48	chr11:48977834-48977884	NHDF-neo	bronchial:	n/a
49	chr11:48977834-48977884	HepG2	liver:	n/a
50	chr11:48977834-48977884	HRCEpiC	kidney:	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	chr11:48981775-48981855	NONHSAT021303
2	lnc-AC084851.1-2	chr11:48983254-48983362	NONHSAT021303
3	lnc-AC084851.1-2	chr11:48982485-48982577	NONHSAT021303
4	lnc-AC084851.1-2	chr11:48981480-48981636	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: 3424 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:3424 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111605826	chr11:48937824-48937825	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549642685	chr11:48937831-48937832	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569585927	chr11:48937832-48937833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78959840	chr11:48937841-48937842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573653744	chr11:48937842-48937843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61896680	chr11:48937844-48937845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112357403	chr11:48937852-48937853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75523376	chr11:48937855-48937856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542476313	chr11:48937874-48937875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553165282	chr11:48937883-48937884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182403620	chr11:48937914-48937915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371191812	chr11:48937920-48937921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370536718	chr11:48937923-48937924	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7932282	chr11:48937924-48937925	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529165867	chr11:48937928-48937929	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111823364	chr11:48937931-48937932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548728668	chr11:48937950-48937951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190109913	chr11:48937954-48937955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367583082	chr11:48937956-48937957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529353964	chr11:48937958-48937959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549169228	chr11:48937967-48937968	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76438008	chr11:48937973-48937974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74648786	chr11:48937974-48937975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11518133	chr11:48937990-48937991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7932388	chr11:48937998-48937999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74600734	chr11:48938012-48938013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111953648	chr11:48938017-48938018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183639222	chr11:48938029-48938030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201988754	chr11:48938039-48938040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375724906	chr11:48938095-48938096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554728688	chr11:48938104-48938105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557610947	chr11:48938105-48938106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200177305	chr11:48938128-48938129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34864327	chr11:48938129-48938130	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs202051119	chr11:48938130-48938131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200372623	chr11:48938141-48938142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188623070	chr11:48938143-48938144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79636590	chr11:48938144-48938145	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202148677	chr11:48938147-48938148	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536670711	chr11:48938159-48938160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112089448	chr11:48938164-48938165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556885117	chr11:48938166-48938167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567260733	chr11:48938180-48938181	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536295875	chr11:48938191-48938192	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182764331	chr11:48938266-48938267	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187373375	chr11:48938288-48938289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111681009	chr11:48938301-48938302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537073805	chr11:48938312-48938313	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79840926	chr11:48938319-48938320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545354074	chr11:48938322-48938323	ZNF genes & repeats 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:35 , 50 per page) page: 1

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

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