Variant report

Variant	nsv877815
Chromosome Location	chr3:163323028-163527425
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	BACH1	chr3:163332402-163332473	K562	blood:	n/a	n/a
3	BCL3	chr3:163527358-163527640	GM12878	blood:	n/a	n/a
4	BHLHE40	chr3:163527203-163527847	GM12878	blood:	n/a	n/a
5	BRCA1	chr3:163527371-163527380	GM12878	blood:	n/a	n/a
6	BRCA1	chr3:163340493-163340554	GM12878	blood:	n/a	n/a
7	BRCA1	chr3:163512131-163512204	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr3:163407246-163407611	HCT-116	colon:	n/a	n/a
9	CBX3	chr3:163407253-163407603	K562	blood:	n/a	n/a
10	CBX3	chr3:163407248-163407637	HCT-116	colon:	n/a	n/a
11	CCNT2	chr3:163442858-163443039	K562	blood:	n/a	n/a
12	CEBPB	chr3:163327669-163327982	Hela-S3	cervix:	n/a	chr3:163327813-163327824
13	CEBPB	chr3:163391438-163391752	HepG2	liver:	n/a	chr3:163391584-163391595
14	CEBPB	chr3:163452578-163453006	Hela-S3	cervix:	n/a	chr3:163452812-163452823
15	CEBPB	chr3:163324840-163325091	A549	lung:	n/a	n/a
16	CEBPB	chr3:163448502-163448824	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr3:163390814-163391023	K562	blood:	n/a	chr3:163390913-163390922 chr3:163390913-163390924 chr3:163390911-163390922 chr3:163390911-163390924
18	CEBPB	chr3:163327644-163327996	K562	blood:	n/a	chr3:163327813-163327824
19	CEBPB	chr3:163383149-163383396	K562	blood:	n/a	chr3:163383292-163383303
20	CEBPB	chr3:163327651-163327959	A549	lung:	n/a	chr3:163327813-163327824
21	CEBPB	chr3:163340325-163340525	HepG2	liver:	n/a	n/a
22	CEBPB	chr3:163454303-163454543	HepG2	liver:	n/a	chr3:163454427-163454438
23	CEBPB	chr3:163458491-163458734	HepG2	liver:	n/a	chr3:163458570-163458581 chr3:163458609-163458620
24	CEBPB	chr3:163458451-163458756	Hela-S3	cervix:	n/a	chr3:163458570-163458581 chr3:163458609-163458620
25	CEBPB	chr3:163327693-163327924	H1-hESC	embryonic stem cell:	n/a	chr3:163327813-163327824
26	CEBPB	chr3:163340239-163340545	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr3:163340132-163340617	MCF-7	breast:	n/a	n/a
28	CEBPB	chr3:163454313-163454558	K562	blood:	n/a	chr3:163454427-163454438
29	CEBPB	chr3:163383184-163383425	HepG2	liver:	n/a	chr3:163383292-163383303
30	CEBPB	chr3:163391405-163391731	A549	lung:	n/a	chr3:163391584-163391595
31	CEBPB	chr3:163383116-163383374	Hela-S3	cervix:	n/a	chr3:163383292-163383303
32	CEBPB	chr3:163340283-163340503	K562	blood:	n/a	n/a
33	CEBPB	chr3:163324781-163325109	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr3:163452706-163452911	HepG2	liver:	n/a	chr3:163452812-163452823
35	CEBPB	chr3:163324771-163325088	HepG2	liver:	n/a	n/a
36	CEBPB	chr3:163342743-163342808	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr3:163390874-163391061	HepG2	liver:	n/a	chr3:163390913-163390922 chr3:163390913-163390924 chr3:163390911-163390922 chr3:163390911-163390924
38	CEBPB	chr3:163490952-163491296	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr3:163452673-163452921	A549	lung:	n/a	chr3:163452812-163452823
40	CEBPB	chr3:163458470-163458736	A549	lung:	n/a	chr3:163458570-163458581 chr3:163458609-163458620
41	CEBPB	chr3:163327634-163327991	HepG2	liver:	n/a	chr3:163327813-163327824
42	CHD2	chr3:163527280-163527820	GM12878	blood:	n/a	n/a
43	CHD2	chr3:163490323-163490413	GM12878	blood:	n/a	n/a
44	CTCF	chr3:163497920-163498070	GM12871	blood:	n/a	n/a
45	CTCF	chr3:163503614-163503730	LNCaP	prostate:	n/a	n/a
46	CTCF	chr3:163497820-163497970	BE2_C	brain:	n/a	n/a
47	CTCF	chr3:163340340-163340490	HRE	kidney:	n/a	n/a
48	CTCF	chr3:163503580-163503730	GM12875	blood:	n/a	n/a
49	CTCF	chr3:163503620-163503770	GM12864	blood:	n/a	n/a
50	CTCF	chr3:163340340-163340490	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:163193836..163194683-chr3:163339947..163340824,6	MCF-7	breast:
2	chr3:163339598..163342556-chr3:163364653..163367485,2	K562	blood:
3	chr3:163449943..163452710-chr3:163479713..163481500,2	K562	blood:
4	chr3:163388063..163389955-chr3:163392155..163394079,2	K562	blood:
5	chr3:163497409..163497997-chr3:163668939..163669921,2	MCF-7	breast:
6	chr3:163454507..163456923-chr3:163459104..163461818,2	K562	blood:
7	chr3:163207821..163208574-chr3:163340096..163340824,2	MCF-7	breast:
8	chr3:163098893..163101155-chr3:163335067..163337245,2	K562	blood:
9	chr3:163468452..163470741-chr3:163472461..163474157,2	K562	blood:
10	chr3:162776529..162777484-chr3:163340191..163340771,2	MCF-7	breast:
11	chr3:163503157..163504078-chr3:163634240..163634926,2	MCF-7	breast:
12	chr3:163454507..163456923-chr3:163459104..163461818,2	K562	blood:
13	chr3:163445006..163447474-chr3:163468904..163470885,2	K562	blood:
14	chr3:163366953..163369523-chr3:163371535..163373205,2	K562	blood:
15	chr3:163339598..163342556-chr3:163364653..163367485,2	K562	blood:
16	chr3:163419104..163421344-chr3:163422068..163423672,2	K562	blood:
17	chr3:163333576..163335440-chr3:163339963..163341748,2	K562	blood:
18	chr3:163419104..163421344-chr3:163422068..163423672,2	K562	blood:
19	chr3:163388063..163389955-chr3:163392155..163394079,2	K562	blood:
20	chr3:163193915..163194594-chr3:163339922..163340818,3	MCF-7	breast:
21	chr3:163244079..163246070-chr3:163322398..163324984,2	MCF-7	breast:
22	chr3:163449943..163452710-chr3:163479713..163481500,2	K562	blood:
23	chr3:163468452..163470741-chr3:163472461..163474157,2	K562	blood:
24	chr3:163333576..163335440-chr3:163339963..163341748,2	K562	blood:
25	chr3:163369185..163370732-chr3:163383412..163385221,2	K562	blood:
26	chr3:163445006..163447474-chr3:163468904..163470885,2	K562	blood:
27	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: 2101 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2101 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116967697	chr3:163344803-163344804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115119657	chr3:163344847-163344848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545861119	chr3:163344863-163344864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541076176	chr3:163344877-163344878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559340094	chr3:163344879-163344880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374693637	chr3:163344895-163344896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528502919	chr3:163344896-163344897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147996536	chr3:163344913-163344914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4855276	chr3:163344920-163344921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141704855	chr3:163344960-163344961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549958935	chr3:163344968-163344969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182824563	chr3:163349603-163349604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533719725	chr3:163349616-163349617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116161941	chr3:163349639-163349640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117813138	chr3:163349644-163349645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187075353	chr3:163349674-163349675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144920371	chr3:163349685-163349686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555847460	chr3:163349705-163349706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542489191	chr3:163349727-163349728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550779442	chr3:163349746-163349747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545412845	chr3:163349802-163349803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78451410	chr3:163349857-163349858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115197123	chr3:163349869-163349870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77010089	chr3:163349906-163349907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565497571	chr3:163349910-163349911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572712085	chr3:163349936-163349937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370204578	chr3:163349938-163349939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374449146	chr3:163349939-163349940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541244503	chr3:163349998-163349999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561480706	chr3:163350017-163350018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547327421	chr3:163350039-163350040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193187063	chr3:163350062-163350063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550150442	chr3:163350123-163350124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115315388	chr3:163350126-163350127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555776475	chr3:163350148-163350149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565240565	chr3:163350153-163350154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527784883	chr3:163350183-163350184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551293567	chr3:163350220-163350221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9861896	chr3:163350227-163350228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534039176	chr3:163350232-163350233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541728248	chr3:163350270-163350271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547264411	chr3:163350286-163350287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149053727	chr3:163350302-163350303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185025344	chr3:163350326-163350327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559978176	chr3:163350335-163350336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567366789	chr3:163350379-163350380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571726970	chr3:163350398-163350399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141368378	chr3:163350444-163350445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189134293	chr3:163350451-163350452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556148913	chr3:163350452-163350453	Enhancers	n/a	n/a	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
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163344800-163345000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:163349600-163350400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163350400-163350800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:163350400-163351000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:163350600-163351200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:163388600-163389600	Enhancers	K562	blood
7	chr3:163389200-163389600	Active TSS	A549	lung
8	chr3:163412400-163415800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:163414000-163417200	Enhancers	Placenta	Placenta
10	chr3:163415800-163417200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:163417200-163418400	Weak transcription	Placenta	Placenta
12	chr3:163418400-163418800	Enhancers	Placenta	Placenta
13	chr3:163426000-163426600	Enhancers	Colon Smooth Muscle	Colon
14	chr3:163431200-163431600	Active TSS	Hela-S3	cervix
15	chr3:163431600-163434200	Weak transcription	Hela-S3	cervix
16	chr3:163434200-163434800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:163434200-163435600	Active TSS	Hela-S3	cervix
18	chr3:163436600-163439800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:163438600-163439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:163438800-163440400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr3:163439200-163440200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr3:163439200-163440200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr3:163439200-163440200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr3:163439400-163439800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:163439400-163440000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr3:163439400-163440000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:163439400-163440200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr3:163439400-163440400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr3:163439800-163441400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr3:163440000-163440400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr3:163440000-163447000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:163440200-163440600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:163440200-163440600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr3:163440200-163440600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:163440400-163440600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:163440400-163440800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:163440600-163440800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr3:163440600-163441200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:163440600-163441400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr3:163440800-163441000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:163440800-163441000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr3:163441000-163441200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:163441200-163441400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:163441200-163441600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:163441600-163446800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:163446800-163447400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:163447000-163447200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr3:163448200-163449000	Enhancers	Liver	Liver
49	chr3:163462600-163463800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:163462800-163463600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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