Variant report

Variant	nsv1046652
Chromosome Location	chr11:48378938-48666024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:390)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:48600198-48600306	K562	blood:	n/a	n/a
2	BCL3	chr11:48649085-48649287	GM12878	blood:	n/a	n/a
3	BCL3	chr11:48393835-48394182	GM12878	blood:	n/a	n/a
4	CEBPB	chr11:48477590-48477827	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr11:48477613-48477707	K562	blood:	n/a	n/a
6	CEBPB	chr11:48497081-48497188	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:48477489-48477840	A549	lung:	n/a	n/a
8	CEBPB	chr11:48641711-48641734	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr11:48641582-48641875	IMR90	lung:	n/a	n/a
10	CEBPB	chr11:48628746-48628791	HepG2	liver:	n/a	chr11:48628766-48628779 chr11:48628767-48628778 chr11:48628766-48628777
11	CEBPB	chr11:48641584-48641785	HepG2	liver:	n/a	n/a
12	CEBPB	chr11:48477483-48477823	HepG2	liver:	n/a	n/a
13	CEBPB	chr11:48477506-48477722	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr11:48477500-48477793	IMR90	lung:	n/a	n/a
15	CTCF	chr11:48406360-48406510	Caco-2	colon:	n/a	n/a
16	CTCF	chr11:48406380-48406530	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr11:48387460-48387610	HEK293	kidney:	n/a	n/a
18	CTCF	chr11:48406380-48406530	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr11:48387420-48387570	HepG2	liver:	n/a	n/a
20	CTCF	chr11:48382500-48382650	HPF	lung:	n/a	n/a
21	CTCF	chr11:48406371-48406484	MCF-7	breast:	n/a	n/a
22	CTCF	chr11:48455736-48455815	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr11:48473825-48473897	GM10248	blood:	n/a	n/a
24	CTCF	chr11:48406362-48406483	NHEK	skin:	n/a	n/a
25	CTCF	chr11:48387503-48387527	LNCaP	prostate:	n/a	n/a
26	CTCF	chr11:48478020-48478170	A549	lung:	n/a	n/a
27	CTCF	chr11:48406397-48406484	Medullo	brain:	n/a	n/a
28	CTCF	chr11:48406380-48406530	GM12873	blood:	n/a	n/a
29	CTCF	chr11:48406367-48406497	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr11:48406348-48406520	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:48406340-48406490	HAc	cerebellar:	n/a	n/a
32	CTCF	chr11:48477982-48478165	LNCaP	prostate:	n/a	n/a
33	CTCF	chr11:48387501-48387576	A549	lung:	n/a	n/a
34	CTCF	chr11:48387540-48387690	GM12870	blood:	n/a	n/a
35	CTCF	chr11:48527334-48527432	Lung_OC	lung:	n/a	n/a
36	CTCF	chr11:48406380-48406530	HEK293	kidney:	n/a	n/a
37	CTCF	chr11:48477999-48478181	MCF-7	breast:	n/a	n/a
38	CTCF	chr11:48445392-48445457	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr11:48406360-48406510	GM12865	blood:	n/a	n/a
40	CTCF	chr11:48387420-48387570	Caco-2	colon:	n/a	n/a
41	CTCF	chr11:48387460-48387610	GM12875	blood:	n/a	n/a
42	CTCF	chr11:48406327-48406551	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr11:48387500-48387650	HepG2	liver:	n/a	n/a
44	CTCF	chr11:48406436-48406443	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr11:48478040-48478190	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:48406345-48406538	GM19238	blood:	n/a	n/a
47	CTCF	chr11:48406412-48406469	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:48477977-48478225	LNCaP	prostate:	n/a	n/a
49	CTCF	chr11:48429107-48429194	LNCaP	prostate:	n/a	n/a
50	CTCF	chr11:48406380-48406530	NHEK	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48509778-48509828	BJ	skin:	n/a
2	chr11:48509488-48509538	BJ	skin:	n/a
3	chr11:48509778-48509828	HMEC	breast:	n/a
4	chr11:48510647-48510697	GM12891	blood:	n/a
5	chr11:48510647-48510697	H1-hESC	embryonic stem cell:	embryo
6	chr11:48510647-48510697	U87	brain:	n/a
7	chr11:48509778-48509828	HepG2	liver:	n/a
8	chr11:48509488-48509538	MCF10A-Er-Src	breast:	n/a
9	chr11:48509488-48509538	HMEC	breast:	n/a
10	chr11:48509778-48509828	BE2_C	brain:	n/a
11	chr11:48509488-48509538	RPTEC	kidney:	n/a
12	chr11:48510647-48510697	HUVEC	blood vessel:	n/a
13	chr11:48509778-48509828	HNPCEpiC	eye:	n/a
14	chr11:48509488-48509538	K562	blood:	n/a
15	chr11:48509778-48509828	H1-hESC	embryonic stem cell:	embryo
16	chr11:48509488-48509538	NHDF-neo	bronchial:	n/a
17	chr11:48510647-48510697	HNPCEpiC	eye:	n/a
18	chr11:48510647-48510697	NHDF-neo	bronchial:	n/a
19	chr11:48509778-48509828	HL-60	blood:	n/a
20	chr11:48509488-48509538	GM12892	blood:	n/a
21	chr11:48509488-48509538	Hela-S3	cervix:	n/a
22	chr11:48510647-48510697	PANC-1	pancreas:	n/a
23	chr11:48509778-48509828	Hela-S3	cervix:	n/a
24	chr11:48509778-48509828	HRPEpiC	eye:	n/a
25	chr11:48510647-48510697	BJ	skin:	n/a
26	chr11:48509488-48509538	GM12878	blood:	n/a
27	chr11:48509778-48509828	NT2-D1	testis:	n/a
28	chr11:48509778-48509828	HRE	kidney:	n/a
29	chr11:48510647-48510697	AG04450	lung:	fetal
30	chr11:48510647-48510697	HL-60	blood:	n/a
31	chr11:48510647-48510697	HCT-116	colon:	n/a
32	chr11:48509778-48509828	T-47D	breast:	n/a
33	chr11:48510647-48510697	HCPEpiC	choroid plexus:	n/a
34	chr11:48509778-48509828	HCPEpiC	choroid plexus:	n/a
35	chr11:48510647-48510697	PrEC	prostate:	n/a
36	chr11:48509488-48509538	Hepatocyte	liver:	n/a
37	chr11:48509488-48509538	SK-N-SH_RA	brain:	n/a
38	chr11:48509488-48509538	AG10803	skin:	n/a
39	chr11:48510647-48510697	AoSMC	blood vessel:	n/a
40	chr11:48510647-48510697	GM12878	blood:	n/a
41	chr11:48509778-48509828	Jurkat	blood:	n/a
42	chr11:48509778-48509828	HRCEpiC	kidney:	n/a
43	chr11:48509778-48509828	Hepatocyte	liver:	n/a
44	chr11:48509488-48509538	NHBE	bronchial:	n/a
45	chr11:48509488-48509538	Jurkat	blood:	n/a
46	chr11:48509488-48509538	NH-A	brain:	n/a
47	chr11:48510647-48510697	HEK293	kidney:	embryo
48	chr11:48509778-48509828	MCF-7	breast:	n/a
49	chr11:48509778-48509828	AG09319	gingival:	n/a
50	chr11:48509778-48509828	NHBE	bronchial:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48478071..48478587-chr11:49191267..49191777,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C5-1	chr11:48507915-48508377	NONHSAT021297

No data

Variant related genes	Relation type
OR4C9P	TF binding region
OR4C10P	TF binding region
OR4A47	TF binding region
OR4C2P	TF binding region
OR4A41P	TF binding region
OR4A46P	TF binding region
OR4A45P	TF binding region
OR4R1P	TF binding region
OR4A43P	TF binding region
OR4C5	TF binding region
OR4C4P	TF binding region
OR4A40P	TF binding region
OR4A44P	TF binding region
OR4A48P	TF binding region
OR4A42P	TF binding region
OR4C9P	CpG island
OR4C10P	CpG island
OR4A47	CpG island
OR4C2P	CpG island
OR4A41P	CpG island
OR4A46P	CpG island
OR4A45P	CpG island
OR4R1P	CpG island
OR4A43P	CpG island
OR4C5	CpG island
OR4C4P	CpG island
OR4A40P	CpG island
OR4A44P	CpG island
OR4A48P	CpG island
OR4A42P	CpG island

Extended variants
information (count: 1379 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1379 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73455066	chr11:48378946-48378947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs563587895	chr11:48378958-48378959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76614712	chr11:48378990-48378991	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs75503815	chr11:48379002-48379003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76101850	chr11:48379007-48379008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79152347	chr11:48379019-48379020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs76409051	chr11:48379027-48379028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs386753351	chr11:48379028-48379029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs77226054	chr11:48379029-48379030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs372480620	chr11:48379030-48379031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138204163	chr11:48379032-48379033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542365213	chr11:48379033-48379034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs559031840	chr11:48379092-48379093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs73455069	chr11:48379105-48379106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs528146782	chr11:48379144-48379145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs72896892	chr11:48379186-48379187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2128675	chr11:48379193-48379194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs74386332	chr11:48379194-48379195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530518997	chr11:48379196-48379197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs79968400	chr11:48379201-48379202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373806275	chr11:48379219-48379220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs386753352	chr11:48379220-48379221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113989034	chr11:48379221-48379222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs369705273	chr11:48379222-48379223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs567903871	chr11:48379223-48379224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs76477661	chr11:48379232-48379233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs386753353	chr11:48379254-48379255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76353732	chr11:48379256-48379257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs536458477	chr11:48379257-48379258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs79630241	chr11:48379259-48379260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547183535	chr11:48379261-48379262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78593187	chr11:48379268-48379269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs77166527	chr11:48379274-48379275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs370592707	chr11:48379304-48379305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539160382	chr11:48379305-48379306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs74917605	chr11:48379312-48379313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs386753354	chr11:48379327-48379328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs80336530	chr11:48379328-48379329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76109386	chr11:48379342-48379343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559077333	chr11:48379345-48379346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs75306208	chr11:48379356-48379357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs77441882	chr11:48379371-48379372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79721483	chr11:48379383-48379384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs76055108	chr11:48379388-48379389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs79266150	chr11:48379390-48379391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73455071	chr11:48379443-48379444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs72896894	chr11:48379463-48379464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs75865935	chr11:48379471-48379472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538235005	chr11:48379475-48379476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs556978039	chr11:48379478-48379479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
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
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
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48373800-48379800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:48376200-48385000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:48376800-48379400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:48379200-48379600	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr11:48382200-48388400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr11:48382600-48383200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:48400000-48401600	ZNF genes & repeats	Liver	Liver
8	chr11:48404600-48405800	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr11:48413000-48413400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:48515600-48516600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr11:48569000-48569600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr11:48569200-48569600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr11:48576800-48577000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:48632800-48633200	Active TSS	Fetal Heart	heart

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