Variant report

Variant	nsv888667
Chromosome Location	chr7:85224664-85356773
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	ATF3	chr7:85324800-85325257	A549	lung:	n/a	n/a
2	ATF3	chr7:85324945-85325334	A549	lung:	n/a	n/a
3	BACH1	chr7:85229703-85230012	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr7:85343575-85343840	GM12878	blood:	n/a	n/a
5	BCL3	chr7:85324797-85325464	A549	lung:	n/a	n/a
6	BCL3	chr7:85349735-85350327	A549	lung:	n/a	n/a
7	BHLHE40	chr7:85343571-85343913	GM12878	blood:	n/a	n/a
8	BRCA1	chr7:85349322-85349783	Hela-S3	cervix:	n/a	n/a
9	CCNT2	chr7:85231581-85231835	K562	blood:	n/a	n/a
10	CEBPB	chr7:85349447-85350296	IMR90	lung:	n/a	n/a
11	CEBPB	chr7:85329869-85330155	A549	lung:	n/a	chr7:85330002-85330013
12	CEBPB	chr7:85329839-85330128	Hela-S3	cervix:	n/a	chr7:85330002-85330013
13	CEBPB	chr7:85266363-85266490	A549	lung:	n/a	n/a
14	CEBPB	chr7:85229849-85230092	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr7:85356135-85356429	A549	lung:	n/a	chr7:85356296-85356307 chr7:85356297-85356306 chr7:85356297-85356306
16	CEBPB	chr7:85349263-85350401	A549	lung:	n/a	n/a
17	CEBPB	chr7:85332157-85332447	K562	blood:	n/a	chr7:85332259-85332270
18	CEBPB	chr7:85277952-85278313	HepG2	liver:	n/a	chr7:85278124-85278135
19	CEBPB	chr7:85270485-85270737	HepG2	liver:	n/a	chr7:85270598-85270609
20	CEBPB	chr7:85329851-85330178	IMR90	lung:	n/a	chr7:85330002-85330013
21	CEBPB	chr7:85224999-85225591	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr7:85324852-85325324	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr7:85260254-85260658	A549	lung:	n/a	n/a
24	CEBPB	chr7:85324871-85325311	MCF-7	breast:	n/a	n/a
25	CEBPB	chr7:85329862-85330164	HepG2	liver:	n/a	chr7:85330002-85330013
26	CEBPB	chr7:85356139-85356457	HepG2	liver:	n/a	chr7:85356296-85356307 chr7:85356297-85356306 chr7:85356297-85356306
27	CEBPB	chr7:85277985-85278260	A549	lung:	n/a	chr7:85278124-85278135
28	CEBPB	chr7:85350014-85350216	HepG2	liver:	n/a	n/a
29	CEBPB	chr7:85349420-85349797	A549	lung:	n/a	n/a
30	CEBPB	chr7:85270505-85271102	Hela-S3	cervix:	n/a	chr7:85270598-85270609
31	CEBPB	chr7:85277974-85278295	IMR90	lung:	n/a	chr7:85278124-85278135
32	CEBPB	chr7:85266317-85266413	HepG2	liver:	n/a	n/a
33	CEBPB	chr7:85332203-85332416	HepG2	liver:	n/a	chr7:85332259-85332270
34	CEBPB	chr7:85349880-85350303	A549	lung:	n/a	n/a
35	CEBPB	chr7:85349214-85350369	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr7:85324745-85325466	A549	lung:	n/a	n/a
37	CEBPB	chr7:85349350-85350293	A549	lung:	n/a	n/a
38	CEBPB	chr7:85329881-85330071	H1-hESC	embryonic stem cell:	n/a	chr7:85330002-85330013
39	CEBPB	chr7:85260258-85260678	HepG2	liver:	n/a	n/a
40	CEBPB	chr7:85312150-85312537	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr7:85270494-85270984	IMR90	lung:	n/a	chr7:85270598-85270609
42	CEBPB	chr7:85260085-85260722	A549	lung:	n/a	n/a
43	CEBPB	chr7:85332164-85332443	IMR90	lung:	n/a	chr7:85332259-85332270
44	CEBPB	chr7:85324856-85325329	MCF-7	breast:	n/a	n/a
45	CEBPB	chr7:85270672-85270912	MCF-7	breast:	n/a	n/a
46	CEBPB	chr7:85278050-85278263	Hela-S3	cervix:	n/a	chr7:85278124-85278135
47	CEBPB	chr7:85324928-85325276	A549	lung:	n/a	n/a
48	CEBPB	chr7:85225271-85225515	IMR90	lung:	n/a	n/a
49	CEBPB	chr7:85251491-85251687	A549	lung:	n/a	n/a
50	CEBPB	chr7:85324928-85325290	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:85308217..85310976-chr7:85319163..85322845,3	K562	blood:
2	chr7:85253799..85255323-chr7:85392933..85394931,2	K562	blood:
3	chr7:85224212..85226454-chr7:85229348..85230972,2	MCF-7	breast:
4	chr7:85324970..85325867-chr9:91930662..91931441,2	HCT-116	colon:
5	chr7:85315775..85319352-chr7:85321463..85324593,3	K562	blood:
6	chr7:85315775..85319352-chr7:85321463..85324593,3	K562	blood:
7	chr7:85308217..85310976-chr7:85319163..85322845,3	K562	blood:
8	chr7:85224212..85226454-chr7:85229348..85230972,2	MCF-7	breast:
9	chr7:85283178..85285409-chr7:85295868..85298479,2	K562	blood:
10	chr7:85283178..85285409-chr7:85295868..85298479,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA3D-4	chr7:85265329-85265660	NONHSAT121800

Variant related genes	Relation type
ENSG00000227785	TF binding region

Extended variants
information (count: 2756 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2756 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4301374	chr7:85224664-85224665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541939033	chr7:85224672-85224673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372508982	chr7:85224712-85224713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148873741	chr7:85224723-85224724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559256687	chr7:85224734-85224735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75007455	chr7:85224770-85224771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73706357	chr7:85224779-85224780	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563566904	chr7:85224800-85224801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191552927	chr7:85224868-85224869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530873345	chr7:85224901-85224902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184162084	chr7:85224999-85225000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567268361	chr7:85225039-85225040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189130191	chr7:85225049-85225050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546676082	chr7:85225058-85225059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571707001	chr7:85225078-85225079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143527045	chr7:85225086-85225087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557177142	chr7:85225109-85225110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568143022	chr7:85225113-85225114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73706358	chr7:85225123-85225124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536580896	chr7:85225126-85225127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535584440	chr7:85225131-85225132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78700153	chr7:85225145-85225146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573213881	chr7:85225146-85225147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565910499	chr7:85225213-85225214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565391116	chr7:85225280-85225281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577456358	chr7:85225342-85225343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377222117	chr7:85225466-85225467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545222654	chr7:85225488-85225489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193002602	chr7:85225520-85225521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368361585	chr7:85225523-85225524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530810963	chr7:85225524-85225525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549280603	chr7:85225545-85225546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560674817	chr7:85225563-85225564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115931700	chr7:85225609-85225610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539384391	chr7:85225617-85225618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556386427	chr7:85225639-85225640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546319514	chr7:85225653-85225654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571004718	chr7:85225655-85225656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368654253	chr7:85225658-85225659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538371659	chr7:85225661-85225662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73706359	chr7:85225663-85225664	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569126670	chr7:85225698-85225699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563499780	chr7:85225699-85225700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185318536	chr7:85225703-85225704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59131285	chr7:85225745-85225746	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569910797	chr7:85225758-85225759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375727365	chr7:85225761-85225762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199854226	chr7:85225810-85225811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76467656	chr7:85225818-85225819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12704149	chr7:85225819-85225820	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85224400-85224800	Weak transcription	Fetal Lung	lung
2	chr7:85224600-85225200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:85224800-85225400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:85224800-85225800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:85224800-85225800	Enhancers	A549	lung
6	chr7:85225000-85225400	Enhancers	Hela-S3	cervix
7	chr7:85225000-85225400	Enhancers	NHDF-Ad	bronchial
8	chr7:85225000-85225600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:85225000-85225600	Enhancers	Fetal Lung	lung
10	chr7:85225000-85225800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:85225200-85225600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:85225200-85225600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:85225200-85225800	Enhancers	Adipose Nuclei	Adipose
14	chr7:85225200-85227200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:85225600-85228800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:85225600-85229400	Weak transcription	Fetal Lung	lung
17	chr7:85225600-85229600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:85225800-85229800	Weak transcription	A549	lung
19	chr7:85227200-85229000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:85228000-85228400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:85228400-85228800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:85228800-85230600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:85228800-85230800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:85229000-85229600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:85229000-85230600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:85229000-85230800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:85229400-85230600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:85229400-85232200	Enhancers	Fetal Lung	lung
29	chr7:85229600-85230000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:85229600-85230200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:85229600-85230400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:85229600-85230600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:85229600-85230600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:85229800-85230000	Enhancers	A549	lung
35	chr7:85229800-85230800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:85230000-85230200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:85230000-85230400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:85230000-85230600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:85230000-85230600	Enhancers	Brain Hippocampus Middle	brain
40	chr7:85230200-85230400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:85230400-85230800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:85230800-85232200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:85244000-85244400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:85244000-85244400	ZNF genes & repeats	Pancreas	Pancrea
45	chr7:85244200-85244600	Enhancers	Esophagus	oesophagus
46	chr7:85246600-85252000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr7:85248600-85249400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:85248800-85249400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:85248800-85249600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:85249000-85249200	Enhancers	Primary monocytes fromperipheralblood	blood

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