Variant report

Variant	nsv869892
Chromosome Location	chr7:85218966-85334376
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	chr7:85324945-85325334	A549	lung:	n/a	n/a
2	ATF3	chr7:85324800-85325257	A549	lung:	n/a	n/a
3	BACH1	chr7:85229703-85230012	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr7:85324797-85325464	A549	lung:	n/a	n/a
5	BCL3	chr7:85221189-85221679	A549	lung:	n/a	n/a
6	BHLHE40	chr7:85221305-85221476	HepG2	liver:	n/a	n/a
7	CCNT2	chr7:85231581-85231835	K562	blood:	n/a	n/a
8	CEBPB	chr7:85312150-85312537	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr7:85329862-85330164	HepG2	liver:	n/a	chr7:85330002-85330013
10	CEBPB	chr7:85270485-85270737	HepG2	liver:	n/a	chr7:85270598-85270609
11	CEBPB	chr7:85229849-85230092	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr7:85332203-85332416	HepG2	liver:	n/a	chr7:85332259-85332270
13	CEBPB	chr7:85277952-85278313	HepG2	liver:	n/a	chr7:85278124-85278135
14	CEBPB	chr7:85251491-85251687	A549	lung:	n/a	n/a
15	CEBPB	chr7:85224999-85225591	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr7:85332164-85332443	IMR90	lung:	n/a	chr7:85332259-85332270
17	CEBPB	chr7:85270520-85270828	A549	lung:	n/a	chr7:85270598-85270609
18	CEBPB	chr7:85324856-85325329	MCF-7	breast:	n/a	n/a
19	CEBPB	chr7:85312180-85312451	IMR90	lung:	n/a	n/a
20	CEBPB	chr7:85324928-85325276	A549	lung:	n/a	n/a
21	CEBPB	chr7:85255501-85255560	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr7:85329851-85330178	IMR90	lung:	n/a	chr7:85330002-85330013
23	CEBPB	chr7:85266317-85266413	HepG2	liver:	n/a	n/a
24	CEBPB	chr7:85266363-85266490	A549	lung:	n/a	n/a
25	CEBPB	chr7:85324871-85325311	MCF-7	breast:	n/a	n/a
26	CEBPB	chr7:85270505-85271102	Hela-S3	cervix:	n/a	chr7:85270598-85270609
27	CEBPB	chr7:85324852-85325324	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr7:85329881-85330071	H1-hESC	embryonic stem cell:	n/a	chr7:85330002-85330013
29	CEBPB	chr7:85260254-85260658	A549	lung:	n/a	n/a
30	CEBPB	chr7:85270672-85270912	MCF-7	breast:	n/a	n/a
31	CEBPB	chr7:85329839-85330128	Hela-S3	cervix:	n/a	chr7:85330002-85330013
32	CEBPB	chr7:85270494-85270984	IMR90	lung:	n/a	chr7:85270598-85270609
33	CEBPB	chr7:85322611-85322860	Hela-S3	cervix:	n/a	chr7:85322711-85322722 chr7:85322711-85322724 chr7:85322713-85322722
34	CEBPB	chr7:85324745-85325466	A549	lung:	n/a	n/a
35	CEBPB	chr7:85277985-85278260	A549	lung:	n/a	chr7:85278124-85278135
36	CEBPB	chr7:85329869-85330155	A549	lung:	n/a	chr7:85330002-85330013
37	CEBPB	chr7:85324928-85325290	A549	lung:	n/a	n/a
38	CEBPB	chr7:85277974-85278295	IMR90	lung:	n/a	chr7:85278124-85278135
39	CEBPB	chr7:85225271-85225515	IMR90	lung:	n/a	n/a
40	CEBPB	chr7:85260085-85260722	A549	lung:	n/a	n/a
41	CEBPB	chr7:85260258-85260678	HepG2	liver:	n/a	n/a
42	CEBPB	chr7:85288718-85289013	Hela-S3	cervix:	n/a	chr7:85288866-85288883 chr7:85288926-85288937
43	CEBPB	chr7:85332157-85332447	K562	blood:	n/a	chr7:85332259-85332270
44	CEBPB	chr7:85278050-85278263	Hela-S3	cervix:	n/a	chr7:85278124-85278135
45	CTCF	chr7:85308181-85308224	GM10266	blood:	n/a	n/a
46	CTCF	chr7:85271180-85271330	NHLF	lung:	n/a	n/a
47	CTCF	chr7:85222750-85222824	GM20000	blood:	n/a	n/a
48	CTCF	chr7:85325000-85325150	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr7:85325040-85325190	MCF-7	breast:	n/a	n/a
50	CTCF	chr7:85327960-85328110	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:85283178..85285409-chr7:85295868..85298479,2	K562	blood:
2	chr7:85315775..85319352-chr7:85321463..85324593,3	K562	blood:
3	chr7:85283178..85285409-chr7:85295868..85298479,2	K562	blood:
4	chr7:85308217..85310976-chr7:85319163..85322845,3	K562	blood:
5	chr7:85224212..85226454-chr7:85229348..85230972,2	MCF-7	breast:
6	chr7:85224212..85226454-chr7:85229348..85230972,2	MCF-7	breast:
7	chr7:85324970..85325867-chr9:91930662..91931441,2	HCT-116	colon:
8	chr7:85315775..85319352-chr7:85321463..85324593,3	K562	blood:
9	chr7:85253799..85255323-chr7:85392933..85394931,2	K562	blood:
10	chr7:85308217..85310976-chr7:85319163..85322845,3	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: 2155 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2155 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545637239	chr7:85221414-85221415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565976919	chr7:85221432-85221433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562692871	chr7:85221434-85221435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386715422	chr7:85221534-85221535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7800640	chr7:85221547-85221548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs79971700	chr7:85221587-85221588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148769971	chr7:85221599-85221600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529506484	chr7:85221625-85221626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555981239	chr7:85221630-85221631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181056140	chr7:85221649-85221650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535417920	chr7:85221669-85221670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547645474	chr7:85221705-85221706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559624326	chr7:85221760-85221761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553692581	chr7:85221767-85221768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185428942	chr7:85221787-85221788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189896365	chr7:85221844-85221845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527642696	chr7:85221894-85221895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547689950	chr7:85221897-85221898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4147416	chr7:85221926-85221927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs73706335	chr7:85221937-85221938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551749478	chr7:85221960-85221961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73706337	chr7:85221996-85221997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570464535	chr7:85222016-85222017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61103848	chr7:85222026-85222027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182131564	chr7:85222034-85222035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10273513	chr7:85222045-85222046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs377282954	chr7:85222158-85222159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559671894	chr7:85222168-85222169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577321303	chr7:85222206-85222207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568120000	chr7:85222227-85222228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4147417	chr7:85222246-85222247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569805852	chr7:85222273-85222274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537176094	chr7:85222299-85222300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116094247	chr7:85222302-85222303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141544240	chr7:85222420-85222421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386715423	chr7:85222442-85222443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553783399	chr7:85222449-85222450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6953137	chr7:85222453-85222454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539051168	chr7:85222524-85222525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557830712	chr7:85222557-85222558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11345148	chr7:85222579-85222580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541275757	chr7:85222623-85222624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559404262	chr7:85222646-85222647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77621445	chr7:85222659-85222660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150880174	chr7:85222669-85222670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187624322	chr7:85222834-85222835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574175553	chr7:85222835-85222836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541664521	chr7:85222882-85222883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58936144	chr7:85222883-85222884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12704145	chr7:85222974-85222975	Enhancers	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:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85221400-85221800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:85221400-85222000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:85221800-85222800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:85222800-85223200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:85222800-85223200	Enhancers	Fetal Intestine Small	intestine
6	chr7:85223200-85223400	Enhancers	Fetal Lung	lung
7	chr7:85223200-85224600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:85224400-85224800	Weak transcription	Fetal Lung	lung
9	chr7:85224600-85225200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:85224800-85225400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:85224800-85225800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:85224800-85225800	Enhancers	A549	lung
13	chr7:85225000-85225400	Enhancers	Hela-S3	cervix
14	chr7:85225000-85225400	Enhancers	NHDF-Ad	bronchial
15	chr7:85225000-85225600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:85225000-85225600	Enhancers	Fetal Lung	lung
17	chr7:85225000-85225800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:85225200-85225600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:85225200-85225600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:85225200-85225800	Enhancers	Adipose Nuclei	Adipose
21	chr7:85225200-85227200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:85225600-85228800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:85225600-85229400	Weak transcription	Fetal Lung	lung
24	chr7:85225600-85229600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:85225800-85229800	Weak transcription	A549	lung
26	chr7:85227200-85229000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:85228000-85228400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:85228400-85228800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:85228800-85230600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:85228800-85230800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:85229000-85229600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:85229000-85230600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:85229000-85230800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:85229400-85230600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:85229400-85232200	Enhancers	Fetal Lung	lung
36	chr7:85229600-85230000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:85229600-85230200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:85229600-85230400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:85229600-85230600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:85229600-85230600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr7:85229800-85230000	Enhancers	A549	lung
42	chr7:85229800-85230800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:85230000-85230200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:85230000-85230400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:85230000-85230600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:85230000-85230600	Enhancers	Brain Hippocampus Middle	brain
47	chr7:85230200-85230400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:85230400-85230800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:85230800-85232200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:85244000-85244400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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