Variant report

Variant	nsv897439
Chromosome Location	chr11:48931739-48978778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:781)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:781 , 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	chr11:48945011-48945390	GM12878	blood:	n/a	n/a
5	BATF	chr11:48976068-48976336	GM12878	blood:	n/a	n/a
6	BATF	chr11:48935181-48935425	GM12878	blood:	n/a	n/a
7	BATF	chr11:48931968-48932274	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	chr11:48946780-48947152	GM12878	blood:	n/a	n/a
11	BATF	chr11:48955305-48955628	GM12878	blood:	n/a	n/a
12	BATF	chr11:48934428-48934662	GM12878	blood:	n/a	n/a
13	BATF	chr11:48934181-48934321	GM12878	blood:	n/a	n/a
14	BATF	chr11:48946385-48946719	GM12878	blood:	n/a	n/a
15	BATF	chr11:48943793-48944288	GM12878	blood:	n/a	n/a
16	BATF	chr11:48934117-48934343	GM12878	blood:	n/a	n/a
17	BATF	chr11:48934446-48934684	GM12878	blood:	n/a	n/a
18	BATF	chr11:48932107-48932317	GM12878	blood:	n/a	n/a
19	BATF	chr11:48940420-48940720	GM12878	blood:	n/a	n/a
20	BATF	chr11:48953209-48953631	GM12878	blood:	n/a	n/a
21	BATF	chr11:48953227-48953611	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:48953233-48953595	GM12878	blood:	n/a	n/a
23	BCL11A	chr11:48945083-48945369	GM12878	blood:	n/a	n/a
24	BCL11A	chr11:48945083-48945411	GM12878	blood:	n/a	n/a
25	BCL11A	chr11:48934158-48934314	GM12878	blood:	n/a	n/a
26	BCL11A	chr11:48932090-48932523	GM12878	blood:	n/a	n/a
27	BCL11A	chr11:48934450-48934655	GM12878	blood:	n/a	n/a
28	BCL11A	chr11:48943783-48944180	GM12878	blood:	n/a	n/a
29	BCL11A	chr11:48955295-48955655	GM12878	blood:	n/a	n/a
30	BCL11A	chr11:48946416-48947156	GM12878	blood:	n/a	n/a
31	BCL11A	chr11:48935779-48936353	GM12878	blood:	n/a	n/a
32	BCL11A	chr11:48953316-48953636	GM12878	blood:	n/a	n/a
33	BCL11A	chr11:48932094-48932265	GM12878	blood:	n/a	n/a
34	BCL11A	chr11:48955311-48955544	GM12878	blood:	n/a	n/a
35	BCL11A	chr11:48976050-48976264	GM12878	blood:	n/a	n/a
36	BCL11A	chr11:48936607-48937112	GM12878	blood:	n/a	n/a
37	BHLHE40	chr11:48936109-48936382	HepG2	liver:	n/a	n/a
38	BHLHE40	chr11:48953193-48953630	HepG2	liver:	n/a	n/a
39	BHLHE40	chr11:48948266-48948511	HepG2	liver:	n/a	n/a
40	BHLHE40	chr11:48958418-48958674	HepG2	liver:	n/a	n/a
41	BRCA1	chr11:48956269-48956471	GM12878	blood:	n/a	n/a
42	BRCA1	chr11:48960588-48960655	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr11:48937795-48937995	HepG2	liver:	n/a	n/a
44	BRCA1	chr11:48956098-48956483	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr11:48942120-48942457	GM12878	blood:	n/a	n/a
46	BRCA1	chr11:48937626-48937825	GM12878	blood:	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48977527-48977577	Caco-2	colon:	n/a
2	chr11:48977527-48977577	AG04450	lung:	fetal
3	chr11:48977834-48977884	ProgFib	skin:	n/a
4	chr11:48977834-48977884	LNCaP	prostate:	n/a
5	chr11:48977527-48977577	HUVEC	blood vessel:	n/a
6	chr11:48977527-48977577	HCT-116	colon:	n/a
7	chr11:48977527-48977577	NB4	blood:	n/a
8	chr11:48977834-48977884	GM19239	blood:	n/a
9	chr11:48977527-48977577	AG09319	gingival:	n/a
10	chr11:48977527-48977577	HCM	heart:	n/a
11	chr11:48977834-48977884	AG09309	skin:	n/a
12	chr11:48977527-48977577	HNPCEpiC	eye:	n/a
13	chr11:48977834-48977884	A549	lung:	n/a
14	chr11:48977834-48977884	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:48977834-48977884	NHBE	bronchial:	n/a
16	chr11:48977527-48977577	RPTEC	kidney:	n/a
17	chr11:48977834-48977884	PANC-1	pancreas:	n/a
18	chr11:48977834-48977884	HRE	kidney:	n/a
19	chr11:48977527-48977577	HL-60	blood:	n/a
20	chr11:48977834-48977884	AG04449	skin:	fetal
21	chr11:48977527-48977577	Hela-S3	cervix:	n/a
22	chr11:48977527-48977577	HepG2	liver:	n/a
23	chr11:48977527-48977577	MCF10A-Er-Src	breast:	n/a
24	chr11:48977834-48977884	GM06990	blood:	n/a
25	chr11:48977527-48977577	ECC-1	luminal epithelium:	n/a
26	chr11:48977834-48977884	SK-N-SH	brain:	n/a
27	chr11:48977527-48977577	HRPEpiC	eye:	n/a
28	chr11:48977834-48977884	IMR90	lung:	fetal
29	chr11:48977834-48977884	AoSMC	blood vessel:	n/a
30	chr11:48977527-48977577	MCF-7	breast:	n/a
31	chr11:48977834-48977884	K562	blood:	n/a
32	chr11:48977527-48977577	Hepatocyte	liver:	n/a
33	chr11:48977527-48977577	U87	brain:	n/a
34	chr11:48977527-48977577	AoSMC	blood vessel:	n/a
35	chr11:48977834-48977884	SK-N-MC	brain:	n/a
36	chr11:48977527-48977577	Jurkat	blood:	n/a
37	chr11:48977834-48977884	HEEpiC	esophagus:	n/a
38	chr11:48977834-48977884	AG10803	skin:	n/a
39	chr11:48977527-48977577	HCF	heart:	n/a
40	chr11:48977527-48977577	HEEpiC	esophagus:	n/a
41	chr11:48977834-48977884	MCF10A-Er-Src	breast:	n/a
42	chr11:48977527-48977577	K562	blood:	n/a
43	chr11:48977834-48977884	NH-A	brain:	n/a
44	chr11:48977527-48977577	HIPEpiC	eye:	n/a
45	chr11:48977527-48977577	AG09309	skin:	n/a
46	chr11:48977834-48977884	HL-60	blood:	n/a
47	chr11:48977527-48977577	HRE	kidney:	n/a
48	chr11:48977527-48977577	GM12892	blood:	n/a
49	chr11:48977834-48977884	HEK293	kidney:	embryo
50	chr11:48977527-48977577	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:

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: 4153 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:4153 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7929225	chr11:48931739-48931740	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185515151	chr11:48931754-48931755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147585233	chr11:48931764-48931765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61896666	chr11:48931775-48931776	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544556778	chr11:48931776-48931777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561146630	chr11:48931796-48931797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111878173	chr11:48931800-48931801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200497015	chr11:48931822-48931823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549376607	chr11:48931836-48931837	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201506917	chr11:48931847-48931848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61896667	chr11:48931858-48931859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61896668	chr11:48931861-48931862	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559449966	chr11:48931863-48931864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148388857	chr11:48931874-48931875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190480883	chr11:48931895-48931896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561203654	chr11:48931906-48931907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117683298	chr11:48931912-48931913	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537232812	chr11:48931913-48931914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113438405	chr11:48931938-48931939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550889952	chr11:48931945-48931946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527993612	chr11:48931946-48931947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115166351	chr11:48931954-48931955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552942615	chr11:48931959-48931960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572699775	chr11:48931970-48931971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201005584	chr11:48931980-48931981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538769448	chr11:48931982-48931983	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111995650	chr11:48932012-48932013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181618268	chr11:48932032-48932033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575542676	chr11:48932036-48932037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544442583	chr11:48932040-48932041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186184584	chr11:48932048-48932049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116598459	chr11:48932063-48932064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150536672	chr11:48932067-48932068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75000484	chr11:48932068-48932069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201405225	chr11:48932069-48932070	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144171668	chr11:48932071-48932072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140518032	chr11:48932075-48932076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540111123	chr11:48932077-48932078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137856337	chr11:48932081-48932082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559746104	chr11:48932085-48932086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150769497	chr11:48932089-48932090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528467353	chr11:48932090-48932091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149768455	chr11:48932091-48932092	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74434118	chr11:48932092-48932093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75896337	chr11:48932095-48932096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142540790	chr11:48932097-48932098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78504397	chr11:48932099-48932100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10839175	chr11:48932103-48932104	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190756988	chr11:48932116-48932117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75788699	chr11:48932125-48932126	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: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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