Variant report

Variant	nsv982945
Chromosome Location	chr11:49979925-50039194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:270)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:270 , 50 per page) page: 1 2 3 4 5 6

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	chr11:49982821-49983021	HepG2	liver:	n/a	chr11:49982866-49982877
6	CHD2	chr11:50017167-50017356	K562	blood:	n/a	n/a
7	CTCF	chr11:50017193-50017413	GM19238	blood:	n/a	n/a
8	CTCF	chr11:50017200-50017350	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr11:50017120-50017270	RPTEC	kidney:	n/a	n/a
10	CTCF	chr11:50017057-50017519	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:50017140-50017290	HFF	foreskin:	n/a	n/a
12	CTCF	chr11:50017140-50017290	AG09309	skin:	n/a	n/a
13	CTCF	chr11:50026978-50027022	GM13977	blood:	n/a	n/a
14	CTCF	chr11:50017220-50017370	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr11:50017182-50017465	Gliobla	brain:	n/a	n/a
16	CTCF	chr11:50017240-50017390	HCM	heart:	n/a	n/a
17	CTCF	chr11:50017240-50017390	GM12865	blood:	n/a	n/a
18	CTCF	chr11:50017220-50017370	HCFaa	heart:	n/a	n/a
19	CTCF	chr11:50017208-50017356	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr11:50017220-50017370	GM12878	blood:	n/a	n/a
21	CTCF	chr11:50017260-50017410	HPF	lung:	n/a	n/a
22	CTCF	chr11:50017220-50017370	HepG2	liver:	n/a	n/a
23	CTCF	chr11:50017199-50017452	GM10266	blood:	n/a	n/a
24	CTCF	chr11:50017140-50017290	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr11:50017042-50017717	A549	lung:	n/a	n/a
26	CTCF	chr11:50017280-50017430	BJ	skin:	n/a	n/a
27	CTCF	chr11:50017240-50017390	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr11:50017240-50017390	HPF	lung:	n/a	n/a
29	CTCF	chr11:50017340-50017490	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr11:50017200-50017350	AG09319	gingival:	n/a	n/a
31	CTCF	chr11:49982435-49982493	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:50017240-50017390	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:50017200-50017350	BJ	skin:	n/a	n/a
34	CTCF	chr11:50017208-50017421	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr11:50017220-50017370	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr11:50017200-50017350	AG09309	skin:	n/a	n/a
37	CTCF	chr11:50017240-50017390	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr11:50017200-50017350	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr11:50017200-50017350	HRE	kidney:	n/a	n/a
40	CTCF	chr11:49982956-49982985	GM20000	blood:	n/a	n/a
41	CTCF	chr11:50017220-50017370	AG10803	skin:	n/a	n/a
42	CTCF	chr11:50017104-50017451	K562	blood:	n/a	n/a
43	CTCF	chr11:50017140-50017290	A549	lung:	n/a	n/a
44	CTCF	chr11:50017182-50017456	LNCaP	prostate:	n/a	n/a
45	CTCF	chr11:49994396-49994512	LNCaP	prostate:	n/a	n/a
46	CTCF	chr11:50017260-50017410	AG10803	skin:	n/a	n/a
47	CTCF	chr11:50017212-50017399	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:50017140-50017290	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr11:50017320-50017470	MCF-7	breast:	n/a	n/a
50	CTCF	chr11:50017220-50017370	HUVEC	blood vessel:	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	chr11:50005399-50005449	IMR90	lung:	fetal
2	chr11:50005457-50005507	PANC-1	pancreas:	n/a
3	chr11:50004210-50004260	SAEC	small airway:	n/a
4	chr11:50005457-50005507	Hela-S3	cervix:	n/a
5	chr11:50005399-50005449	NT2-D1	testis:	n/a
6	chr11:50004210-50004260	H1-hESC	embryonic stem cell:	embryo
7	chr11:50003963-50004013	HL-60	blood:	n/a
8	chr11:50004210-50004260	HRCEpiC	kidney:	n/a
9	chr11:50003963-50004013	HepG2	liver:	n/a
10	chr11:50003963-50004013	PANC-1	pancreas:	n/a
11	chr11:50005399-50005449	HRE	kidney:	n/a
12	chr11:50003963-50004013	PrEC	prostate:	n/a
13	chr11:50005399-50005449	NHDF-neo	bronchial:	n/a
14	chr11:50005399-50005449	K562	blood:	n/a
15	chr11:50005457-50005507	MCF-7	breast:	n/a
16	chr11:50005457-50005507	AG10803	skin:	n/a
17	chr11:50004210-50004260	HepG2	liver:	n/a
18	chr11:50003963-50004013	AG09309	skin:	n/a
19	chr11:50003963-50004013	A549	lung:	n/a
20	chr11:50005399-50005449	AG09309	skin:	n/a
21	chr11:50005399-50005449	GM12878	blood:	n/a
22	chr11:50003963-50004013	HRPEpiC	eye:	n/a
23	chr11:50005457-50005507	CMK	blood:	n/a
24	chr11:50005457-50005507	AoSMC	blood vessel:	n/a
25	chr11:50003963-50004013	SKMC	muscle:	n/a
26	chr11:50005457-50005507	A549	lung:	n/a
27	chr11:50005399-50005449	U87	brain:	n/a
28	chr11:50003963-50004013	SK-N-SH	brain:	n/a
29	chr11:50003963-50004013	HRCEpiC	kidney:	n/a
30	chr11:50005399-50005449	Hela-S3	cervix:	n/a
31	chr11:50005399-50005449	H1-hESC	embryonic stem cell:	embryo
32	chr11:50003963-50004013	HRE	kidney:	n/a
33	chr11:50004210-50004260	HAEpiC	amniotic membrane:	n/a
34	chr11:50005399-50005449	HCPEpiC	choroid plexus:	n/a
35	chr11:50005399-50005449	HIPEpiC	eye:	n/a
36	chr11:50003963-50004013	SK-N-MC	brain:	n/a
37	chr11:50005399-50005449	NHBE	bronchial:	n/a
38	chr11:50004210-50004260	MCF10A-Er-Src	breast:	n/a
39	chr11:50005457-50005507	HAEpiC	amniotic membrane:	n/a
40	chr11:50004210-50004260	ECC-1	luminal epithelium:	n/a
41	chr11:50005399-50005449	HRPEpiC	eye:	n/a
42	chr11:50005457-50005507	AG04450	lung:	fetal
43	chr11:50005457-50005507	SK-N-MC	brain:	n/a
44	chr11:50004210-50004260	BJ	skin:	n/a
45	chr11:50005399-50005449	ECC-1	luminal epithelium:	n/a
46	chr11:50003963-50004013	T-47D	breast:	n/a
47	chr11:50004210-50004260	PFSK-1	brain:	n/a
48	chr11:50005457-50005507	K562	blood:	n/a
49	chr11:50005399-50005449	HCF	heart:	n/a
50	chr11:50004210-50004260	AG04450	lung:	fetal

(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: 114 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188821245	chr11:49982808-49982809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs192824013	chr11:49982838-49982839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150950378	chr11:49982865-49982866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs575809106	chr11:49982876-49982877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541703611	chr11:49982897-49982898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184129052	chr11:49982898-49982899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs527600224	chr11:49982911-49982912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs140724046	chr11:49982937-49982938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs569436966	chr11:49982973-49982974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs1949795	chr11:49982974-49982975	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555058455	chr11:49982977-49982978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs371386485	chr11:49983000-49983001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs569812913	chr11:49983003-49983004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs538423158	chr11:49983004-49983005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs548504746	chr11:49983006-49983007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145726532	chr11:49983030-49983031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs187754329	chr11:49983037-49983038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs553718548	chr11:49983068-49983069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs576814485	chr11:49983076-49983077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs4528310	chr11:49983106-49983107	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192467435	chr11:49983125-49983126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs541968162	chr11:49983134-49983135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528155921	chr11:49983143-49983144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs55801025	chr11:49983207-49983208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561736288	chr11:49983247-49983248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs183892325	chr11:49983265-49983266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574867928	chr11:49983305-49983306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs78806922	chr11:49983318-49983319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs540306227	chr11:49983319-49983320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs111807164	chr11:49983322-49983323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs527313435	chr11:49983326-49983327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs11040682	chr11:49983355-49983356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528981396	chr11:49983382-49983383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs4329694	chr11:49983402-49983403	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568579006	chr11:49983407-49983408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs146902282	chr11:49983408-49983409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs547665190	chr11:49983427-49983428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570859400	chr11:49983439-49983440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs188266876	chr11:49983527-49983528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539440124	chr11:49983537-49983538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556148513	chr11:49983539-49983540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs570086696	chr11:49983633-49983634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs7932683	chr11:49983640-49983641	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376229344	chr11:49983650-49983651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs7947526	chr11:49983654-49983655	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572125568	chr11:49983660-49983661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs541272346	chr11:49983686-49983687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs558072407	chr11:49983688-49983689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs578004358	chr11:49983689-49983690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs543393689	chr11:49983703-49983704	ZNF genes & repeats	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49982800-49984200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:50003400-50003800	Active TSS	Brain Substantia Nigra	brain

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