Variant report

Variant	nsv877805
Chromosome Location	chr3:163075070-163200865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:163194056-163194256	K562	blood:	n/a	n/a
2	CCNT2	chr3:163113728-163113917	K562	blood:	n/a	n/a
3	CEBPB	chr3:163077613-163077856	HepG2	liver:	n/a	n/a
4	CEBPB	chr3:163171743-163171942	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr3:163135983-163136113	H1-hESC	embryonic stem cell:	n/a	chr3:163135991-163136002 chr3:163135992-163136001 chr3:163135992-163136001
6	CEBPB	chr3:163156613-163156901	A549	lung:	n/a	n/a
7	CEBPB	chr3:163171743-163171956	MCF-7	breast:	n/a	n/a
8	CEBPB	chr3:163097121-163097403	K562	blood:	n/a	chr3:163097277-163097288
9	CEBPB	chr3:163156621-163156876	HepG2	liver:	n/a	n/a
10	CEBPB	chr3:163163503-163163772	A549	lung:	n/a	n/a
11	CEBPB	chr3:163135827-163136125	HepG2	liver:	n/a	chr3:163135991-163136002 chr3:163135992-163136001 chr3:163135992-163136001
12	CEBPB	chr3:163146570-163146752	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr3:163156603-163156994	MCF-7	breast:	n/a	n/a
14	CEBPB	chr3:163097193-163097391	A549	lung:	n/a	chr3:163097277-163097288
15	CEBPB	chr3:163097132-163097429	HepG2	liver:	n/a	chr3:163097277-163097288
16	CEBPB	chr3:163156609-163156913	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr3:163097111-163097457	IMR90	lung:	n/a	chr3:163097277-163097288
18	CHD2	chr3:163105026-163106562	K562	blood:	n/a	n/a
19	CHD2	chr3:163104244-163104528	K562	blood:	n/a	n/a
20	CTCF	chr3:163194100-163194250	SAEC	small airway:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
21	CTCF	chr3:163144038-163144066	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr3:163194100-163194250	NB4	blood:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
23	CTCF	chr3:163140615-163140723	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:163194059-163194246	MCF-7	breast:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
25	CTCF	chr3:163194120-163194270	HBMEC	blood vessel:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
26	CTCF	chr3:163194080-163194230	BE2_C	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
27	CTCF	chr3:163194060-163194210	HEEpiC	esophagus:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
28	CTCF	chr3:163194060-163194210	HA-sp	spinal cord:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
29	CTCF	chr3:163193999-163194304	K562	blood:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
30	CTCF	chr3:163140617-163140729	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:163193885-163194398	HCT-116	colon:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
32	CTCF	chr3:163194120-163194270	HRE	kidney:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
33	CTCF	chr3:163194120-163194270	HEEpiC	esophagus:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
34	CTCF	chr3:163194100-163194250	HPAF	blood vessel:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
35	CTCF	chr3:163194120-163194270	HRPEpiC	eye:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
36	CTCF	chr3:163194060-163194210	HCPEpiC	choroid plexus:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
37	CTCF	chr3:163194100-163194250	HepG2	liver:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
38	CTCF	chr3:163194020-163194170	SK-N-SH_RA	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
39	CTCF	chr3:163194088-163194213	Gliobla	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
40	CTCF	chr3:163194040-163194190	HBMEC	blood vessel:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
41	CTCF	chr3:163194100-163194250	BE2_C	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
42	CTCF	chr3:163194100-163194250	RPTEC	kidney:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
43	CTCF	chr3:163194116-163194165	MCF-7	breast:	n/a	chr3:163194147-163194160 chr3:163194144-163194162
44	CTCF	chr3:163194100-163194250	HMEC	breast:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
45	CTCF	chr3:163194056-163194190	SK-N-SH_RA	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
46	CTCF	chr3:163194040-163194190	SK-N-SH_RA	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
47	CTCF	chr3:163194133-163194226	Pancreas_OC	pancreas:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
48	CTCF	chr3:163171827-163171898	GM20000	blood:	n/a	n/a
49	CTCF	chr3:163190545-163190595	GM10266	blood:	n/a	n/a
50	CTCF	chr3:163194014-163194254	LNCaP	prostate:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167

No.	Distal block	Cell Line	Cell type
1	chr3:163153075..163155845-chr3:163158514..163160684,2	K562	blood:
2	chr3:163105916..163108059-chr3:163125965..163128652,2	K562	blood:
3	chr3:163193734..163194832-chr3:163207697..163208413,4	MCF-7	breast:
4	chr3:163093927..163096694-chr3:163097446..163100303,3	K562	blood:
5	chr3:163105916..163108059-chr3:163125965..163128652,2	K562	blood:
6	chr3:163153075..163155845-chr3:163158514..163160684,2	K562	blood:
7	chr3:163098893..163101155-chr3:163335067..163337245,2	K562	blood:
8	chr3:163099881..163101461-chr3:163102597..163105467,2	K562	blood:
9	chr3:163090274..163091850-chr3:163098856..163100455,2	K562	blood:
10	chr3:163099881..163101461-chr3:163102597..163105467,2	K562	blood:
11	chr3:163193915..163194594-chr3:163339922..163340818,3	MCF-7	breast:
12	chr3:163121369..163123913-chr3:163134434..163136619,2	K562	blood:
13	chr16:17545591..17546532-chr3:163096602..163097414,2	MCF-7	breast:
14	chr3:163121369..163123913-chr3:163134434..163136619,2	K562	blood:
15	chr3:163090274..163091850-chr3:163098856..163100455,2	K562	blood:
16	chr3:163093927..163096694-chr3:163097446..163100303,3	K562	blood:
17	chr3:163193836..163194683-chr3:163339947..163340824,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-3	chr3:163192855-163192939	XLOC_002898
2	lnc-OTOL1-3	chr3:163196490-163197153	XLOC_002898
3	lnc-SI-4	chr3:163079232-163079351	ENSG00000241369

Variant related genes	Relation type
CT64	TF binding region
ENSG00000240792	TF binding region
MEOX2	miRNA target sites

Extended variants
information (count: 1135 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1135 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555212327	chr3:163079023-163079024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs12106974	chr3:163079045-163079046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573340644	chr3:163079049-163079050	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552880612	chr3:163079062-163079063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573036624	chr3:163079063-163079064	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541921832	chr3:163079089-163079090	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113153835	chr3:163079134-163079135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540593804	chr3:163079140-163079141	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561803133	chr3:163079145-163079146	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192630307	chr3:163079146-163079147	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565539182	chr3:163079160-163079161	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184833797	chr3:163079222-163079223	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111622663	chr3:163079251-163079252	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs147276151	chr3:163079289-163079290	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs114956243	chr3:163079309-163079310	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs13075728	chr3:163079336-163079337	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs369936659	chr3:163079337-163079338	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs13075729	chr3:163079338-163079339	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs13075871	chr3:163079359-163079360	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs59958993	chr3:163079361-163079362	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62293464	chr3:163079363-163079364	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs533420072	chr3:163079383-163079384	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs188382605	chr3:163079395-163079396	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs560517130	chr3:163079416-163079417	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544227235	chr3:163079424-163079425	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549181287	chr3:163079481-163079482	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568980195	chr3:163079498-163079499	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs537951163	chr3:163079517-163079518	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs372953957	chr3:163079518-163079519	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs4021212	chr3:163079532-163079533	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs371599537	chr3:163079536-163079537	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571654410	chr3:163079616-163079617	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112770428	chr3:163079732-163079733	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs553257733	chr3:163079738-163079739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs572938485	chr3:163079747-163079748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs143716150	chr3:163079765-163079766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs144979107	chr3:163079778-163079779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs115411260	chr3:163079792-163079793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs575365630	chr3:163079823-163079824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs544335381	chr3:163079834-163079835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs7636016	chr3:163079857-163079858	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs180748299	chr3:163079866-163079867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs540549529	chr3:163079898-163079899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs148138126	chr3:163079915-163079916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs529564982	chr3:163079920-163079921	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs542764339	chr3:163080013-163080014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs141971530	chr3:163080069-163080070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs566550287	chr3:163080187-163080188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs184887438	chr3:163080213-163080214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs189768736	chr3:163080254-163080255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163079000-163079600	Active TSS	Hela-S3	cervix
2	chr3:163085200-163085800	Enhancers	Aorta	Aorta
3	chr3:163086600-163086800	Enhancers	Adipose Nuclei	Adipose
4	chr3:163086800-163087400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr3:163101600-163102800	Enhancers	Dnd41	blood
6	chr3:163103400-163104200	Active TSS	K562	blood
7	chr3:163108600-163109000	Enhancers	Adipose Nuclei	Adipose
8	chr3:163108800-163110400	Enhancers	Dnd41	blood
9	chr3:163136000-163144200	Weak transcription	Aorta	Aorta
10	chr3:163144200-163144400	ZNF genes & repeats	Aorta	Aorta
11	chr3:163156800-163157400	Enhancers	Adipose Nuclei	Adipose
12	chr3:163166400-163168600	Weak transcription	Aorta	Aorta
13	chr3:163168600-163169400	ZNF genes & repeats	Aorta	Aorta
14	chr3:163169400-163179400	Weak transcription	Aorta	Aorta
15	chr3:163171800-163172000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:163172800-163173200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:163172800-163173400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:163176600-163177000	Enhancers	Hela-S3	cervix
19	chr3:163177000-163177400	Active TSS	Hela-S3	cervix
20	chr3:163179200-163180000	Enhancers	Adipose Nuclei	Adipose
21	chr3:163179400-163180000	Enhancers	Aorta	Aorta

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