Variant report

Variant	nsv877817
Chromosome Location	chr3:163365504-163510195
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	ARID3A	chr3:163497758-163497988	HepG2	liver:	n/a	n/a
2	CBX3	chr3:163407248-163407637	HCT-116	colon:	n/a	n/a
3	CBX3	chr3:163407246-163407611	HCT-116	colon:	n/a	n/a
4	CBX3	chr3:163407253-163407603	K562	blood:	n/a	n/a
5	CCNT2	chr3:163442858-163443039	K562	blood:	n/a	n/a
6	CEBPB	chr3:163448502-163448824	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr3:163391438-163391752	HepG2	liver:	n/a	chr3:163391584-163391595
8	CEBPB	chr3:163383184-163383425	HepG2	liver:	n/a	chr3:163383292-163383303
9	CEBPB	chr3:163452673-163452921	A549	lung:	n/a	chr3:163452812-163452823
10	CEBPB	chr3:163452706-163452911	HepG2	liver:	n/a	chr3:163452812-163452823
11	CEBPB	chr3:163391405-163391731	A549	lung:	n/a	chr3:163391584-163391595
12	CEBPB	chr3:163458491-163458734	HepG2	liver:	n/a	chr3:163458570-163458581 chr3:163458609-163458620
13	CEBPB	chr3:163490952-163491296	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr3:163383149-163383396	K562	blood:	n/a	chr3:163383292-163383303
15	CEBPB	chr3:163390814-163391023	K562	blood:	n/a	chr3:163390913-163390922 chr3:163390913-163390924 chr3:163390911-163390922 chr3:163390911-163390924
16	CEBPB	chr3:163458470-163458736	A549	lung:	n/a	chr3:163458570-163458581 chr3:163458609-163458620
17	CEBPB	chr3:163458451-163458756	Hela-S3	cervix:	n/a	chr3:163458570-163458581 chr3:163458609-163458620
18	CEBPB	chr3:163452578-163453006	Hela-S3	cervix:	n/a	chr3:163452812-163452823
19	CEBPB	chr3:163454303-163454543	HepG2	liver:	n/a	chr3:163454427-163454438
20	CEBPB	chr3:163383116-163383374	Hela-S3	cervix:	n/a	chr3:163383292-163383303
21	CEBPB	chr3:163454313-163454558	K562	blood:	n/a	chr3:163454427-163454438
22	CEBPB	chr3:163390874-163391061	HepG2	liver:	n/a	chr3:163390913-163390922 chr3:163390913-163390924 chr3:163390911-163390922 chr3:163390911-163390924
23	CHD2	chr3:163490323-163490413	GM12878	blood:	n/a	n/a
24	CTCF	chr3:163497880-163498030	HepG2	liver:	n/a	n/a
25	CTCF	chr3:163503640-163503790	K562	blood:	n/a	n/a
26	CTCF	chr3:163503540-163503758	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr3:163503635-163503733	GM20000	blood:	n/a	n/a
28	CTCF	chr3:163459320-163459363	GM13977	blood:	n/a	n/a
29	CTCF	chr3:163497920-163498070	RPTEC	kidney:	n/a	n/a
30	CTCF	chr3:163497880-163498030	BE2_C	brain:	n/a	n/a
31	CTCF	chr3:163503563-163503743	GM10266	blood:	n/a	n/a
32	CTCF	chr3:163497920-163498070	HCT-116	colon:	n/a	n/a
33	CTCF	chr3:163503600-163503750	HCT-116	colon:	n/a	n/a
34	CTCF	chr3:163503540-163503690	GM12871	blood:	n/a	n/a
35	CTCF	chr3:163503580-163503730	HepG2	liver:	n/a	n/a
36	CTCF	chr3:163490157-163490357	GM12878	blood:	n/a	n/a
37	CTCF	chr3:163497840-163497990	GM12875	blood:	n/a	n/a
38	CTCF	chr3:163503600-163503750	GM12868	blood:	n/a	n/a
39	CTCF	chr3:163497924-163497975	Medullo	brain:	n/a	n/a
40	CTCF	chr3:163503600-163503750	HepG2	liver:	n/a	n/a
41	CTCF	chr3:163503453-163503823	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr3:163497851-163498037	LNCaP	prostate:	n/a	n/a
43	CTCF	chr3:163503540-163503690	AG09319	gingival:	n/a	n/a
44	CTCF	chr3:163503476-163503863	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr3:163497899-163497974	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr3:163503635-163503738	A549	lung:	n/a	n/a
47	CTCF	chr3:163503600-163503750	GM12874	blood:	n/a	n/a
48	CTCF	chr3:163503620-163503770	GM12869	blood:	n/a	n/a
49	CTCF	chr3:163497880-163498030	MCF-7	breast:	n/a	n/a
50	CTCF	chr3:163503620-163503770	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:163388063..163389955-chr3:163392155..163394079,2	K562	blood:
2	chr3:163497409..163497997-chr3:163668939..163669921,2	MCF-7	breast:
3	chr3:163388063..163389955-chr3:163392155..163394079,2	K562	blood:
4	chr3:163445006..163447474-chr3:163468904..163470885,2	K562	blood:
5	chr3:163454507..163456923-chr3:163459104..163461818,2	K562	blood:
6	chr3:163369185..163370732-chr3:163383412..163385221,2	K562	blood:
7	chr3:163449943..163452710-chr3:163479713..163481500,2	K562	blood:
8	chr3:163503157..163504078-chr3:163634240..163634926,2	MCF-7	breast:
9	chr3:163419104..163421344-chr3:163422068..163423672,2	K562	blood:
10	chr3:163339598..163342556-chr3:163364653..163367485,2	K562	blood:
11	chr3:163468452..163470741-chr3:163472461..163474157,2	K562	blood:
12	chr3:163366953..163369523-chr3:163371535..163373205,2	K562	blood:
13	chr3:163468452..163470741-chr3:163472461..163474157,2	K562	blood:
14	chr3:163449943..163452710-chr3:163479713..163481500,2	K562	blood:
15	chr3:163445006..163447474-chr3:163468904..163470885,2	K562	blood:
16	chr3:163454507..163456923-chr3:163459104..163461818,2	K562	blood:
17	chr3:163419104..163421344-chr3:163422068..163423672,2	K562	blood:
18	chr3:163369185..163370732-chr3:163383412..163385221,2	K562	blood:

Variant related genes	Relation type
ENSG00000266757	TF binding region
ENSG00000266757	chromatin interactions

Extended variants
information (count: 1831 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1831 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189801325	chr3:163366956-163366957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs6764526	chr3:163367084-163367085	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs17478859	chr3:163367109-163367110	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566908171	chr3:163367130-163367131	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568783819	chr3:163367169-163367170	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537212550	chr3:163367190-163367191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531287737	chr3:163367229-163367230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182835566	chr3:163367269-163367270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555956370	chr3:163367272-163367273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537251492	chr3:163367286-163367287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187078033	chr3:163367302-163367303	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574020290	chr3:163367361-163367362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74887721	chr3:163367392-163367393	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539181363	chr3:163367399-163367400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200065887	chr3:163367456-163367457	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552628353	chr3:163367471-163367472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572550012	chr3:163367491-163367492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376357282	chr3:163367495-163367496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541414868	chr3:163367546-163367547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562415606	chr3:163367569-163367570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575801873	chr3:163367611-163367612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544813364	chr3:163367631-163367632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73876465	chr3:163367645-163367646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533552534	chr3:163367664-163367665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192970585	chr3:163367681-163367682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185142493	chr3:163367745-163367746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370680855	chr3:163367757-163367758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568407424	chr3:163367812-163367813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143999008	chr3:163367841-163367842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572576807	chr3:163367872-163367873	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541200228	chr3:163367875-163367876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561412014	chr3:163367900-163367901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs116181865	chr3:163367960-163367961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374956894	chr3:163368008-163368009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535292078	chr3:163368025-163368026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188865740	chr3:163368060-163368061	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553372056	chr3:163368077-163368078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570581090	chr3:163368105-163368106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539245069	chr3:163368281-163368282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552690125	chr3:163368307-163368308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369109723	chr3:163368316-163368317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372817999	chr3:163368328-163368329	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs193207284	chr3:163368339-163368340	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146439326	chr3:163368377-163368378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs9826321	chr3:163368399-163368400	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546528636	chr3:163368425-163368426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563598686	chr3:163368426-163368427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530748953	chr3:163368438-163368439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544615012	chr3:163368440-163368441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558409759	chr3:163368459-163368460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163388600-163389600	Enhancers	K562	blood
2	chr3:163389200-163389600	Active TSS	A549	lung
3	chr3:163412400-163415800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:163414000-163417200	Enhancers	Placenta	Placenta
5	chr3:163415800-163417200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:163417200-163418400	Weak transcription	Placenta	Placenta
7	chr3:163418400-163418800	Enhancers	Placenta	Placenta
8	chr3:163426000-163426600	Enhancers	Colon Smooth Muscle	Colon
9	chr3:163431200-163431600	Active TSS	Hela-S3	cervix
10	chr3:163431600-163434200	Weak transcription	Hela-S3	cervix
11	chr3:163434200-163434800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:163434200-163435600	Active TSS	Hela-S3	cervix
13	chr3:163436600-163439800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:163438600-163439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:163438800-163440400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr3:163439200-163440200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr3:163439200-163440200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr3:163439200-163440200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr3:163439400-163439800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:163439400-163440000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
21	chr3:163439400-163440000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:163439400-163440200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr3:163439400-163440400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr3:163439800-163441400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr3:163440000-163440400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr3:163440000-163447000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:163440200-163440600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr3:163440200-163440600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr3:163440200-163440600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:163440400-163440600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:163440400-163440800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:163440600-163440800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr3:163440600-163441200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:163440600-163441400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:163440800-163441000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:163440800-163441000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:163441000-163441200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:163441200-163441400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:163441200-163441600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:163441600-163446800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:163446800-163447400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:163447000-163447200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr3:163448200-163449000	Enhancers	Liver	Liver
44	chr3:163462600-163463800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:163462800-163463600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:163467000-163467200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:163467200-163468600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:163470200-163471400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:163470200-163471600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:163470200-163472000	Enhancers	Dnd41	blood

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