Variant report

Variant	nsv897448
Chromosome Location	chr11:48935934-48987539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:676)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:676 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr11:48985042-48985405	GM12878	blood:	n/a	n/a
5	BATF	chr11:48946385-48946719	GM12878	blood:	n/a	n/a
6	BATF	chr11:48953227-48953611	GM12878	blood:	n/a	n/a
7	BATF	chr11:48946780-48947152	GM12878	blood:	n/a	n/a
8	BATF	chr11:48953209-48953631	GM12878	blood:	n/a	n/a
9	BATF	chr11:48955305-48955628	GM12878	blood:	n/a	n/a
10	BATF	chr11:48985116-48985352	GM12878	blood:	n/a	n/a
11	BATF	chr11:48945011-48945390	GM12878	blood:	n/a	n/a
12	BATF	chr11:48945095-48945310	GM12878	blood:	n/a	n/a
13	BATF	chr11:48940420-48940720	GM12878	blood:	n/a	n/a
14	BATF	chr11:48943793-48944288	GM12878	blood:	n/a	n/a
15	BATF	chr11:48976068-48976336	GM12878	blood:	n/a	n/a
16	BATF	chr11:48976038-48976262	GM12878	blood:	n/a	n/a
17	BCL11A	chr11:48935779-48936353	GM12878	blood:	n/a	n/a
18	BCL11A	chr11:48945083-48945411	GM12878	blood:	n/a	n/a
19	BCL11A	chr11:48945083-48945369	GM12878	blood:	n/a	n/a
20	BCL11A	chr11:48946416-48947156	GM12878	blood:	n/a	n/a
21	BCL11A	chr11:48943783-48944180	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:48953316-48953636	GM12878	blood:	n/a	n/a
23	BCL11A	chr11:48976050-48976264	GM12878	blood:	n/a	n/a
24	BCL11A	chr11:48953233-48953595	GM12878	blood:	n/a	n/a
25	BCL11A	chr11:48955295-48955655	GM12878	blood:	n/a	n/a
26	BCL11A	chr11:48955311-48955544	GM12878	blood:	n/a	n/a
27	BCL11A	chr11:48936607-48937112	GM12878	blood:	n/a	n/a
28	BHLHE40	chr11:48958418-48958674	HepG2	liver:	n/a	n/a
29	BHLHE40	chr11:48953193-48953630	HepG2	liver:	n/a	n/a
30	BHLHE40	chr11:48936109-48936382	HepG2	liver:	n/a	n/a
31	BHLHE40	chr11:48948266-48948511	HepG2	liver:	n/a	n/a
32	BRCA1	chr11:48956098-48956483	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr11:48960588-48960655	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr11:48937626-48937825	GM12878	blood:	n/a	n/a
35	BRCA1	chr11:48956269-48956471	GM12878	blood:	n/a	n/a
36	BRCA1	chr11:48937795-48937995	HepG2	liver:	n/a	n/a
37	BRCA1	chr11:48942120-48942457	GM12878	blood:	n/a	n/a
38	CEBPB	chr11:48960415-48960521	K562	blood:	n/a	n/a
39	CEBPB	chr11:48956269-48956469	K562	blood:	n/a	n/a
40	CEBPD	chr11:48953317-48953723	K562	blood:	n/a	n/a
41	CEBPZ	chr11:48937623-48937998	HepG2	liver:	n/a	n/a
42	CHD1	chr11:48953549-48953581	GM12878	blood:	n/a	n/a
43	CHD2	chr11:48958911-48958925	GM12878	blood:	n/a	n/a
44	CHD2	chr11:48937799-48937823	K562	blood:	n/a	n/a
45	CHD2	chr11:48956269-48956470	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr11:48959212-48959412	K562	blood:	n/a	n/a
47	CTCF	chr11:48946801-48947146	K562	blood:	n/a	n/a
48	CTCF	chr11:48966763-48966883	LNCaP	prostate:	n/a	n/a
49	CTCF	chr11:48982340-48982500	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr11:48953254-48953804	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	chr11:48977834-48977884	BE2_C	brain:	n/a
2	chr11:48977527-48977577	ProgFib	skin:	n/a
3	chr11:48977834-48977884	K562	blood:	n/a
4	chr11:48977527-48977577	MCF-7	breast:	n/a
5	chr11:48977834-48977884	GM12878	blood:	n/a
6	chr11:48977834-48977884	HMEC	breast:	n/a
7	chr11:48987265-48987315	LNCaP	prostate:	n/a
8	chr11:48977527-48977577	HCPEpiC	choroid plexus:	n/a
9	chr11:48977527-48977577	SAEC	small airway:	n/a
10	chr11:48977834-48977884	HUVEC	blood vessel:	n/a
11	chr11:48987265-48987315	HEK293	kidney:	embryo
12	chr11:48977527-48977577	AG09309	skin:	n/a
13	chr11:48977834-48977884	NT2-D1	testis:	n/a
14	chr11:48987265-48987315	HL-60	blood:	n/a
15	chr11:48977834-48977884	HRCEpiC	kidney:	n/a
16	chr11:48977527-48977577	T-47D	breast:	n/a
17	chr11:48987265-48987315	SK-N-SH	brain:	n/a
18	chr11:48977834-48977884	SAEC	small airway:	n/a
19	chr11:48977834-48977884	Hepatocyte	liver:	n/a
20	chr11:48977834-48977884	BJ	skin:	n/a
21	chr11:48987265-48987315	HCPEpiC	choroid plexus:	n/a
22	chr11:48977834-48977884	MCF-7	breast:	n/a
23	chr11:48977527-48977577	PrEC	prostate:	n/a
24	chr11:48977834-48977884	SK-N-MC	brain:	n/a
25	chr11:48987265-48987315	ovcar-3	ovarian:	n/a
26	chr11:48987265-48987315	ECC-1	luminal epithelium:	n/a
27	chr11:48987265-48987315	AG10803	skin:	n/a
28	chr11:48977527-48977577	HepG2	liver:	n/a
29	chr11:48977527-48977577	U87	brain:	n/a
30	chr11:48977527-48977577	AG10803	skin:	n/a
31	chr11:48977527-48977577	GM19239	blood:	n/a
32	chr11:48977834-48977884	NB4	blood:	n/a
33	chr11:48977527-48977577	HCT-116	colon:	n/a
34	chr11:48987265-48987315	SK-N-SH_RA	brain:	n/a
35	chr11:48977834-48977884	MCF10A-Er-Src	breast:	n/a
36	chr11:48977527-48977577	K562	blood:	n/a
37	chr11:48987265-48987315	SKMC	muscle:	n/a
38	chr11:48987265-48987315	HMEC	breast:	n/a
39	chr11:48977527-48977577	BJ	skin:	n/a
40	chr11:48977527-48977577	Jurkat	blood:	n/a
41	chr11:48987265-48987315	RPTEC	kidney:	n/a
42	chr11:48987265-48987315	NHBE	bronchial:	n/a
43	chr11:48977527-48977577	HRPEpiC	eye:	n/a
44	chr11:48977834-48977884	AoSMC	blood vessel:	n/a
45	chr11:48977834-48977884	NH-A	brain:	n/a
46	chr11:48987265-48987315	GM12891	blood:	n/a
47	chr11:48977834-48977884	GM19239	blood:	n/a
48	chr11:48987265-48987315	Jurkat	blood:	n/a
49	chr11:48977834-48977884	SK-N-SH	brain:	n/a
50	chr11:48977834-48977884	HCF	heart:	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	chr11:48983254-48983362	NONHSAT021303
2	lnc-AC084851.1-2	chr11:48982485-48982577	NONHSAT021303
3	lnc-AC084851.1-2	chr11:48981775-48981855	NONHSAT021303
4	lnc-AC084851.1-2	chr11:48981480-48981636	NONHSAT021303

No data

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

Extended variants
information (count: 3691 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:3691 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61896742	chr11:48935939-48935940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11821144	chr11:48935941-48935942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113592325	chr11:48935942-48935943	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560230268	chr11:48935945-48935946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112877614	chr11:48935957-48935958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201052829	chr11:48935959-48935960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61896743	chr11:48935966-48935967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61896744	chr11:48935970-48935971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10769522	chr11:48935975-48935976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200552201	chr11:48935977-48935978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370375048	chr11:48935979-48935980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61896745	chr11:48935984-48935985	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199765192	chr11:48935985-48935986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142702604	chr11:48936010-48936011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200602130	chr11:48936017-48936018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146811400	chr11:48936018-48936019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7945403	chr11:48936030-48936031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137869667	chr11:48936033-48936034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150761461	chr11:48936044-48936045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201968178	chr11:48936045-48936046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143564993	chr11:48936047-48936048	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568246166	chr11:48936048-48936049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112357521	chr11:48936059-48936060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113974138	chr11:48936063-48936064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201881595	chr11:48936065-48936066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533885015	chr11:48936071-48936072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7945721	chr11:48936072-48936073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554021023	chr11:48936086-48936087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7945508	chr11:48936088-48936089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201138629	chr11:48936094-48936095	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141905807	chr11:48936101-48936102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112228503	chr11:48936117-48936118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190297022	chr11:48936120-48936121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558485354	chr11:48936126-48936127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202063007	chr11:48936128-48936129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575340698	chr11:48936151-48936152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7932295	chr11:48936163-48936164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561370050	chr11:48936168-48936169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7945625	chr11:48936169-48936170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11512404	chr11:48936171-48936172	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560790609	chr11:48936173-48936174	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532821335	chr11:48936174-48936175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112247086	chr11:48936180-48936181	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140111319	chr11:48936201-48936202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78974250	chr11:48936208-48936209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79306723	chr11:48936209-48936210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79551760	chr11:48936228-48936229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75698443	chr11:48936229-48936230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78031568	chr11:48936233-48936234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562422669	chr11:48936239-48936240	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:41 , 50 per page) page: 1

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

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