Variant report

Variant	nsv554217
Chromosome Location	chr11:48387186-48604187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:307)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

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	chr11:48393835-48394182	GM12878	blood:	n/a	n/a
3	CEBPB	chr11:48477590-48477827	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr11:48497081-48497188	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:48477489-48477840	A549	lung:	n/a	n/a
6	CEBPB	chr11:48477613-48477707	K562	blood:	n/a	n/a
7	CEBPB	chr11:48477506-48477722	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr11:48477483-48477823	HepG2	liver:	n/a	n/a
9	CEBPB	chr11:48477500-48477793	IMR90	lung:	n/a	n/a
10	CTCF	chr11:48406380-48406530	GM12866	blood:	n/a	n/a
11	CTCF	chr11:48406331-48406526	A549	lung:	n/a	n/a
12	CTCF	chr11:48387519-48387561	HepG2	liver:	n/a	n/a
13	CTCF	chr11:48406380-48406530	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr11:48387426-48387586	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:48406440-48406590	NHEK	skin:	n/a	n/a
16	CTCF	chr11:48387460-48387610	Caco-2	colon:	n/a	n/a
17	CTCF	chr11:48387380-48387530	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:48406371-48406484	MCF-7	breast:	n/a	n/a
19	CTCF	chr11:48406360-48406510	GM12870	blood:	n/a	n/a
20	CTCF	chr11:48387445-48387596	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:48406367-48406497	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr11:48406340-48406541	GM12878	blood:	n/a	n/a
23	CTCF	chr11:48440733-48440772	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr11:48455736-48455815	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr11:48406321-48406528	K562	blood:	n/a	n/a
26	CTCF	chr11:48406379-48406509	A549	lung:	n/a	n/a
27	CTCF	chr11:48406400-48406550	GM12874	blood:	n/a	n/a
28	CTCF	chr11:48406380-48406530	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr11:48477977-48478225	LNCaP	prostate:	n/a	n/a
30	CTCF	chr11:48478020-48478170	A549	lung:	n/a	n/a
31	CTCF	chr11:48477999-48478181	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:48406360-48406510	GM12869	blood:	n/a	n/a
33	CTCF	chr11:48523124-48523262	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr11:48406345-48406533	GM12891	blood:	n/a	n/a
35	CTCF	chr11:48555446-48555538	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:48406400-48406550	K562	blood:	n/a	n/a
37	CTCF	chr11:48406380-48406530	NB4	blood:	n/a	n/a
38	CTCF	chr11:48406380-48406530	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr11:48477982-48478165	LNCaP	prostate:	n/a	n/a
40	CTCF	chr11:48406340-48406490	AG04449	skin:	n/a	n/a
41	CTCF	chr11:48387420-48387570	HepG2	liver:	n/a	n/a
42	CTCF	chr11:48406360-48406510	GM12867	blood:	n/a	n/a
43	CTCF	chr11:48477962-48478148	MCF-7	breast:	n/a	n/a
44	CTCF	chr11:48480118-48480215	LNCaP	prostate:	n/a	n/a
45	CTCF	chr11:48387460-48387610	HEK293	kidney:	n/a	n/a
46	CTCF	chr11:48387460-48387610	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:48479011-48479096	Fibrobl	skin:	n/a	n/a
48	CTCF	chr11:48406380-48406477	Fibrobl	skin:	n/a	n/a
49	CTCF	chr11:48445392-48445457	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr11:48406320-48406470	GM12878	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	chr11:48510647-48510697	T-47D	breast:	n/a
2	chr11:48509778-48509828	HCM	heart:	n/a
3	chr11:48510647-48510697	IMR90	lung:	fetal
4	chr11:48509488-48509538	Hepatocyte	liver:	n/a
5	chr11:48509778-48509828	NHDF-neo	bronchial:	n/a
6	chr11:48509488-48509538	GM12891	blood:	n/a
7	chr11:48509488-48509538	BE2_C	brain:	n/a
8	chr11:48509488-48509538	SAEC	small airway:	n/a
9	chr11:48509488-48509538	AoSMC	blood vessel:	n/a
10	chr11:48509488-48509538	AG09319	gingival:	n/a
11	chr11:48509778-48509828	Hepatocyte	liver:	n/a
12	chr11:48510647-48510697	HEK293	kidney:	embryo
13	chr11:48509778-48509828	ECC-1	luminal epithelium:	n/a
14	chr11:48509778-48509828	AG04449	skin:	fetal
15	chr11:48509778-48509828	IMR90	lung:	fetal
16	chr11:48509488-48509538	HMEC	breast:	n/a
17	chr11:48509488-48509538	MCF10A-Er-Src	breast:	n/a
18	chr11:48509778-48509828	HPAEpiC	pulmonary alveolar:	n/a
19	chr11:48509778-48509828	BE2_C	brain:	n/a
20	chr11:48510647-48510697	ovcar-3	ovarian:	n/a
21	chr11:48509488-48509538	NH-A	brain:	n/a
22	chr11:48509778-48509828	SK-N-SH_RA	brain:	n/a
23	chr11:48509778-48509828	NH-A	brain:	n/a
24	chr11:48509778-48509828	NB4	blood:	n/a
25	chr11:48509488-48509538	SK-N-SH_RA	brain:	n/a
26	chr11:48510647-48510697	Hepatocyte	liver:	n/a
27	chr11:48510647-48510697	NHDF-neo	bronchial:	n/a
28	chr11:48509778-48509828	MCF-7	breast:	n/a
29	chr11:48509778-48509828	HCF	heart:	n/a
30	chr11:48509488-48509538	HUVEC	blood vessel:	n/a
31	chr11:48510647-48510697	LNCaP	prostate:	n/a
32	chr11:48509488-48509538	RPTEC	kidney:	n/a
33	chr11:48509778-48509828	HIPEpiC	eye:	n/a
34	chr11:48509488-48509538	HIPEpiC	eye:	n/a
35	chr11:48509488-48509538	HEEpiC	esophagus:	n/a
36	chr11:48509778-48509828	HRCEpiC	kidney:	n/a
37	chr11:48509488-48509538	NB4	blood:	n/a
38	chr11:48510647-48510697	ECC-1	luminal epithelium:	n/a
39	chr11:48509778-48509828	GM19239	blood:	n/a
40	chr11:48510647-48510697	Hela-S3	cervix:	n/a
41	chr11:48509488-48509538	HL-60	blood:	n/a
42	chr11:48509778-48509828	H1-hESC	embryonic stem cell:	embryo
43	chr11:48509778-48509828	HRE	kidney:	n/a
44	chr11:48510647-48510697	PFSK-1	brain:	n/a
45	chr11:48509488-48509538	U87	brain:	n/a
46	chr11:48509488-48509538	K562	blood:	n/a
47	chr11:48509488-48509538	NHDF-neo	bronchial:	n/a
48	chr11:48510647-48510697	HRCEpiC	kidney:	n/a
49	chr11:48510647-48510697	HCPEpiC	choroid plexus:	n/a
50	chr11:48509488-48509538	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
OR4C5	TF binding region
OR4C10P	TF binding region
OR4A47	TF binding region
OR4C2P	TF binding region
OR4A40P	TF binding region
OR4A46P	TF binding region
OR4A45P	TF binding region
OR4A48P	TF binding region
OR4R1P	TF binding region
OR4A43P	TF binding region
OR4C9P	CpG island
OR4C5	CpG island
OR4C10P	CpG island
OR4A47	CpG island
OR4C2P	CpG island
OR4A40P	CpG island
OR4A46P	CpG island
OR4A45P	CpG island
OR4A48P	CpG island
OR4R1P	CpG island
OR4A43P	CpG island

Extended variants
information (count: 608 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1994140	chr11:48387186-48387187	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77053100	chr11:48387201-48387202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76817095	chr11:48387206-48387207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs78428763	chr11:48387210-48387211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs79985800	chr11:48387211-48387212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575211923	chr11:48387215-48387216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs199753293	chr11:48387235-48387236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs72898877	chr11:48387237-48387238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs200811929	chr11:48387238-48387239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7130061	chr11:48387244-48387245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs75441735	chr11:48387254-48387255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs78030134	chr11:48387258-48387259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs75430864	chr11:48387262-48387263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs10838881	chr11:48387275-48387276	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs139139147	chr11:48387278-48387279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs76306144	chr11:48387279-48387280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs369896820	chr11:48387285-48387286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76220342	chr11:48387301-48387302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540969683	chr11:48387307-48387308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs73460769	chr11:48387335-48387336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560621031	chr11:48387343-48387344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs73460771	chr11:48387354-48387355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs73460772	chr11:48387370-48387371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546041572	chr11:48387376-48387377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs563015644	chr11:48387412-48387413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs61917478	chr11:48387424-48387425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs77144540	chr11:48387490-48387491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs72898882	chr11:48387506-48387507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531718545	chr11:48387518-48387519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78378263	chr11:48387526-48387527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs72898883	chr11:48387535-48387536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs72898885	chr11:48387540-48387541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs527674874	chr11:48387569-48387570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs78299098	chr11:48387580-48387581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75027745	chr11:48387582-48387583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs75821991	chr11:48387584-48387585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs146834236	chr11:48387590-48387591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs75297075	chr11:48387591-48387592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs554773218	chr11:48387595-48387596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs72898886	chr11:48387604-48387605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs569015234	chr11:48387627-48387628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs140665145	chr11:48387628-48387629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs73460777	chr11:48387630-48387631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs554698444	chr11:48387632-48387633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs75615667	chr11:48387647-48387648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs533724202	chr11:48387656-48387657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs151060469	chr11:48387663-48387664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs10769651	chr11:48387668-48387669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs76209049	chr11:48387679-48387680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs67755516	chr11:48387684-48387685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48382200-48388400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:48400000-48401600	ZNF genes & repeats	Liver	Liver
3	chr11:48404600-48405800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr11:48413000-48413400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:48515600-48516600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr11:48569000-48569600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr11:48569200-48569600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr11:48576800-48577000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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