Variant report

Variant	nsv428254
Chromosome Location	chr11:50002975-50058422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:312)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:312 , 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	chr11:50017185-50017430	HepG2	liver:	n/a	n/a
2	BHLHE40	chr11:50017239-50017377	K562	blood:	n/a	n/a
3	CBX3	chr11:50017158-50017392	K562	blood:	n/a	n/a
4	CBX3	chr11:50017099-50017442	K562	blood:	n/a	n/a
5	CEBPB	chr11:50047487-50047664	A549	lung:	n/a	n/a
6	CEBPB	chr11:50056041-50056226	HepG2	liver:	n/a	chr11:50056106-50056117
7	CHD2	chr11:50017167-50017356	K562	blood:	n/a	n/a
8	CTCF	chr11:50017140-50017290	GM12871	blood:	n/a	n/a
9	CTCF	chr11:50017195-50017415	Fibrobl	skin:	n/a	n/a
10	CTCF	chr11:50017240-50017390	BE2_C	brain:	n/a	n/a
11	CTCF	chr11:50017042-50017717	A549	lung:	n/a	n/a
12	CTCF	chr11:50017118-50017484	GM12878	blood:	n/a	n/a
13	CTCF	chr11:50048487-50048532	LNCaP	prostate:	n/a	n/a
14	CTCF	chr11:50017140-50017290	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr11:50017217-50017384	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:50017226-50017404	Lung_OC	lung:	n/a	n/a
17	CTCF	chr11:50017184-50017440	LNCaP	prostate:	n/a	n/a
18	CTCF	chr11:50017240-50017390	GM12865	blood:	n/a	n/a
19	CTCF	chr11:50017280-50017430	BJ	skin:	n/a	n/a
20	CTCF	chr11:50017260-50017410	AG04449	skin:	n/a	n/a
21	CTCF	chr11:50019396-50019436	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr11:50017200-50017350	GM12872	blood:	n/a	n/a
23	CTCF	chr11:50017240-50017390	HPF	lung:	n/a	n/a
24	CTCF	chr11:50017203-50017426	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr11:50018758-50018782	GM20000	blood:	n/a	n/a
26	CTCF	chr11:50017193-50017409	GM10248	blood:	n/a	n/a
27	CTCF	chr11:50017220-50017370	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr11:50017200-50017350	GM12870	blood:	n/a	n/a
29	CTCF	chr11:50017240-50017390	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr11:50017208-50017356	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr11:50017140-50017290	A549	lung:	n/a	n/a
32	CTCF	chr11:50017240-50017390	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:50017184-50017439	MCF-7	breast:	n/a	n/a
34	CTCF	chr11:50017280-50017430	NHLF	lung:	n/a	n/a
35	CTCF	chr11:50017200-50017350	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr11:50017168-50017385	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr11:50017210-50017409	A549	lung:	n/a	n/a
38	CTCF	chr11:50017057-50017519	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:50017200-50017350	GM12873	blood:	n/a	n/a
40	CTCF	chr11:50017192-50017431	GM12878	blood:	n/a	n/a
41	CTCF	chr11:50017140-50017290	GM12865	blood:	n/a	n/a
42	CTCF	chr11:50017240-50017390	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr11:50017340-50017490	HRE	kidney:	n/a	n/a
44	CTCF	chr11:50017213-50017400	GM19240	blood:	n/a	n/a
45	CTCF	chr11:50017160-50017310	GM12870	blood:	n/a	n/a
46	CTCF	chr11:50017140-50017290	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:50054510-50054612	NHEK	skin:	n/a	n/a
48	CTCF	chr11:50017217-50017418	HepG2	liver:	n/a	n/a
49	CTCF	chr11:50017132-50017419	A549	lung:	n/a	n/a
50	CTCF	chr11:50017220-50017370	GM12874	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:50003963-50004013	SKMC	muscle:	n/a
2	chr11:50005399-50005449	AG04450	lung:	fetal
3	chr11:50005399-50005449	HepG2	liver:	n/a
4	chr11:50004210-50004260	HMEC	breast:	n/a
5	chr11:50003963-50004013	GM12891	blood:	n/a
6	chr11:50003963-50004013	HRCEpiC	kidney:	n/a
7	chr11:50004210-50004260	AG10803	skin:	n/a
8	chr11:50003963-50004013	AoSMC	blood vessel:	n/a
9	chr11:50005399-50005449	SAEC	small airway:	n/a
10	chr11:50003963-50004013	HAEpiC	amniotic membrane:	n/a
11	chr11:50003963-50004013	HCPEpiC	choroid plexus:	n/a
12	chr11:50003963-50004013	A549	lung:	n/a
13	chr11:50005399-50005449	SKMC	muscle:	n/a
14	chr11:50004210-50004260	AoSMC	blood vessel:	n/a
15	chr11:50004210-50004260	RPTEC	kidney:	n/a
16	chr11:50005457-50005507	AG04449	skin:	fetal
17	chr11:50003963-50004013	HMEC	breast:	n/a
18	chr11:50005457-50005507	HEEpiC	esophagus:	n/a
19	chr11:50005399-50005449	GM19239	blood:	n/a
20	chr11:50003963-50004013	PrEC	prostate:	n/a
21	chr11:50004210-50004260	NT2-D1	testis:	n/a
22	chr11:50004210-50004260	MCF10A-Er-Src	breast:	n/a
23	chr11:50005457-50005507	HAEpiC	amniotic membrane:	n/a
24	chr11:50003963-50004013	HL-60	blood:	n/a
25	chr11:50003963-50004013	GM06990	blood:	n/a
26	chr11:50005399-50005449	CMK	blood:	n/a
27	chr11:50005399-50005449	K562	blood:	n/a
28	chr11:50005457-50005507	Hepatocyte	liver:	n/a
29	chr11:50005457-50005507	NH-A	brain:	n/a
30	chr11:50004210-50004260	HL-60	blood:	n/a
31	chr11:50004210-50004260	HepG2	liver:	n/a
32	chr11:50005457-50005507	K562	blood:	n/a
33	chr11:50004210-50004260	IMR90	lung:	fetal
34	chr11:50005457-50005507	HMEC	breast:	n/a
35	chr11:50004210-50004260	A549	lung:	n/a
36	chr11:50005457-50005507	HEK293	kidney:	embryo
37	chr11:50003963-50004013	RPTEC	kidney:	n/a
38	chr11:50004210-50004260	GM12891	blood:	n/a
39	chr11:50005399-50005449	HPAEpiC	pulmonary alveolar:	n/a
40	chr11:50003963-50004013	SK-N-SH	brain:	n/a
41	chr11:50005399-50005449	SK-N-MC	brain:	n/a
42	chr11:50003963-50004013	IMR90	lung:	fetal
43	chr11:50003963-50004013	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:50004210-50004260	HCM	heart:	n/a
45	chr11:50005457-50005507	SK-N-SH_RA	brain:	n/a
46	chr11:50005399-50005449	HEK293	kidney:	embryo
47	chr11:50005457-50005507	ECC-1	luminal epithelium:	n/a
48	chr11:50004210-50004260	SK-N-SH	brain:	n/a
49	chr11:50005457-50005507	NHBE	bronchial:	n/a
50	chr11:50005399-50005449	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:49547545..49548055-chr11:50016701..50017446,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR4C12	TF binding region
OR4C12	CpG island

Extended variants
information (count: 1041 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369617851	chr11:50003413-50003414	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs147181422	chr11:50003428-50003429	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs374542319	chr11:50003431-50003432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545187798	chr11:50003443-50003444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs201564751	chr11:50003448-50003449	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs377698711	chr11:50003461-50003462	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147895623	chr11:50003469-50003470	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114706080	chr11:50003508-50003509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371209365	chr11:50003523-50003524	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144596966	chr11:50003527-50003528	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs267602935	chr11:50003581-50003582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs568189298	chr11:50003596-50003597	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374949660	chr11:50003625-50003626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139887616	chr11:50003627-50003628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377392786	chr11:50003636-50003637	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370533796	chr11:50003651-50003652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374549077	chr11:50003736-50003737	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368427781	chr11:50003769-50003770	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs553820430	chr11:50003795-50003796	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181521994	chr11:50004233-50004234	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs61893962	chr11:50005400-50005401	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569628938	chr11:50005406-50005407	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs150164676	chr11:50005458-50005459	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs373586596	chr11:50005921-50005922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs117539803	chr11:50005939-50005940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs569858171	chr11:50005947-50005948	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs533897754	chr11:50005962-50005963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs112828389	chr11:50005983-50005984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs565705808	chr11:50005991-50005992	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs534405515	chr11:50006058-50006059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs367763930	chr11:50006063-50006064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs550690508	chr11:50007290-50007291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs570145698	chr11:50007325-50007326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs192864913	chr11:50007334-50007335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs190262285	chr11:50039211-50039212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182395209	chr11:50039237-50039238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574678132	chr11:50039258-50039259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530988689	chr11:50039279-50039280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201831370	chr11:50039358-50039359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75388644	chr11:50039359-50039360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28411228	chr11:50039363-50039364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202163031	chr11:50039365-50039366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550798187	chr11:50039370-50039371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187394240	chr11:50039406-50039407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536550079	chr11:50039458-50039459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191724797	chr11:50039463-50039464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533900234	chr11:50039491-50039492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150370720	chr11:50039505-50039506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566288066	chr11:50039513-50039514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145024458	chr11:50039531-50039532	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Mortal	21835882	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	22495309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50003400-50003800	Active TSS	Brain Substantia Nigra	brain
2	chr11:50039200-50040600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:50040600-50049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:50047400-50047600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:50049200-50049600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:50049600-50054400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:50054400-50058600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:50056000-50056400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:50057400-50058000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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