Variant report

Variant	nsv888664
Chromosome Location	chr7:85194414-85381614
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	chr7:85194316-85194431	HepG2	liver:	n/a	n/a
2	ATF1	chr7:85210707-85210842	K562	blood:	n/a	n/a
3	ATF3	chr7:85324945-85325334	A549	lung:	n/a	n/a
4	ATF3	chr7:85324800-85325257	A549	lung:	n/a	n/a
5	BACH1	chr7:85229703-85230012	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr7:85362473-85362491	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr7:85343575-85343840	GM12878	blood:	n/a	n/a
8	BCL3	chr7:85349735-85350327	A549	lung:	n/a	n/a
9	BCL3	chr7:85221189-85221679	A549	lung:	n/a	n/a
10	BCL3	chr7:85324797-85325464	A549	lung:	n/a	n/a
11	BHLHE40	chr7:85343571-85343913	GM12878	blood:	n/a	n/a
12	BHLHE40	chr7:85221305-85221476	HepG2	liver:	n/a	n/a
13	BRCA1	chr7:85349322-85349783	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr7:85363774-85363793	Hela-S3	cervix:	n/a	n/a
15	CCNT2	chr7:85231581-85231835	K562	blood:	n/a	n/a
16	CEBPB	chr7:85329839-85330128	Hela-S3	cervix:	n/a	chr7:85330002-85330013
17	CEBPB	chr7:85229849-85230092	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr7:85322611-85322860	Hela-S3	cervix:	n/a	chr7:85322711-85322722 chr7:85322711-85322724 chr7:85322713-85322722
19	CEBPB	chr7:85270672-85270912	MCF-7	breast:	n/a	n/a
20	CEBPB	chr7:85324928-85325276	A549	lung:	n/a	n/a
21	CEBPB	chr7:85349263-85350401	A549	lung:	n/a	n/a
22	CEBPB	chr7:85324856-85325329	MCF-7	breast:	n/a	n/a
23	CEBPB	chr7:85332203-85332416	HepG2	liver:	n/a	chr7:85332259-85332270
24	CEBPB	chr7:85255501-85255560	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr7:85266317-85266413	HepG2	liver:	n/a	n/a
26	CEBPB	chr7:85277952-85278313	HepG2	liver:	n/a	chr7:85278124-85278135
27	CEBPB	chr7:85324928-85325290	A549	lung:	n/a	n/a
28	CEBPB	chr7:85356135-85356429	A549	lung:	n/a	chr7:85356296-85356307 chr7:85356297-85356306 chr7:85356297-85356306
29	CEBPB	chr7:85349420-85349797	A549	lung:	n/a	n/a
30	CEBPB	chr7:85224999-85225591	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr7:85362444-85362900	A549	lung:	n/a	n/a
32	CEBPB	chr7:85251491-85251687	A549	lung:	n/a	n/a
33	CEBPB	chr7:85260085-85260722	A549	lung:	n/a	n/a
34	CEBPB	chr7:85270485-85270737	HepG2	liver:	n/a	chr7:85270598-85270609
35	CEBPB	chr7:85278050-85278263	Hela-S3	cervix:	n/a	chr7:85278124-85278135
36	CEBPB	chr7:85349794-85350323	HCT-116	colon:	n/a	n/a
37	CEBPB	chr7:85349880-85350303	A549	lung:	n/a	n/a
38	CEBPB	chr7:85350014-85350216	HepG2	liver:	n/a	n/a
39	CEBPB	chr7:85329851-85330178	IMR90	lung:	n/a	chr7:85330002-85330013
40	CEBPB	chr7:85356130-85356426	IMR90	lung:	n/a	chr7:85356296-85356307 chr7:85356297-85356306 chr7:85356297-85356306
41	CEBPB	chr7:85356139-85356457	HepG2	liver:	n/a	chr7:85356296-85356307 chr7:85356297-85356306 chr7:85356297-85356306
42	CEBPB	chr7:85349214-85350369	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr7:85349363-85349820	HCT-116	colon:	n/a	n/a
44	CEBPB	chr7:85349447-85350296	IMR90	lung:	n/a	n/a
45	CEBPB	chr7:85260258-85260678	HepG2	liver:	n/a	n/a
46	CEBPB	chr7:85260254-85260658	A549	lung:	n/a	n/a
47	CEBPB	chr7:85270494-85270984	IMR90	lung:	n/a	chr7:85270598-85270609
48	CEBPB	chr7:85324852-85325324	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr7:85288718-85289013	Hela-S3	cervix:	n/a	chr7:85288866-85288883 chr7:85288926-85288937
50	CEBPB	chr7:85312150-85312537	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:84670634..84671600-chr7:85379520..85380121,2	MCF-7	breast:
2	chr7:85283178..85285409-chr7:85295868..85298479,2	K562	blood:
3	chr7:85308217..85310976-chr7:85319163..85322845,3	K562	blood:
4	chr7:85224212..85226454-chr7:85229348..85230972,2	MCF-7	breast:
5	chr7:85183273..85184394-chr7:85379037..85380205,4	MCF-7	breast:
6	chr7:85315775..85319352-chr7:85321463..85324593,3	K562	blood:
7	chr7:85373526..85376335-chr7:85378810..85381383,2	K562	blood:
8	chr7:85373526..85376335-chr7:85378810..85381383,2	K562	blood:
9	chr7:85283178..85285409-chr7:85295868..85298479,2	K562	blood:
10	chr7:85253799..85255323-chr7:85392933..85394931,2	K562	blood:
11	chr7:85324970..85325867-chr9:91930662..91931441,2	HCT-116	colon:
12	chr7:85308217..85310976-chr7:85319163..85322845,3	K562	blood:
13	chr7:85224212..85226454-chr7:85229348..85230972,2	MCF-7	breast:
14	chr7:85315775..85319352-chr7:85321463..85324593,3	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
ENSG00000153993	chromatin interactions

Extended variants
information (count: 4023 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4023 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10499891	chr7:85194414-85194415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201491945	chr7:85194464-85194465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144962169	chr7:85194471-85194472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201208247	chr7:85194477-85194478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372077481	chr7:85194478-85194479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148307218	chr7:85194489-85194490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs5885475	chr7:85194499-85194500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3081620	chr7:85194500-85194501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560275503	chr7:85194506-85194507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181642120	chr7:85194526-85194527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114572234	chr7:85194541-85194542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570678393	chr7:85194542-85194543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566794727	chr7:85194544-85194545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185976179	chr7:85194547-85194548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191440531	chr7:85194569-85194570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150118363	chr7:85194572-85194573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs67780798	chr7:85194573-85194574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572583570	chr7:85194586-85194587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539659439	chr7:85194617-85194618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113864233	chr7:85194638-85194639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542693999	chr7:85194648-85194649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145333291	chr7:85194674-85194675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543796714	chr7:85194678-85194679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562063268	chr7:85194709-85194710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538448657	chr7:85194710-85194711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149198942	chr7:85194732-85194733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182815903	chr7:85194745-85194746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559609803	chr7:85194820-85194821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200321422	chr7:85194836-85194837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556846690	chr7:85194878-85194879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575206642	chr7:85194888-85194889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535812238	chr7:85194912-85194913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564365439	chr7:85194927-85194928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531493510	chr7:85195032-85195033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188236981	chr7:85195076-85195077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567696716	chr7:85195082-85195083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528890058	chr7:85195095-85195096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547432847	chr7:85195119-85195120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555294084	chr7:85195134-85195135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67533357	chr7:85195202-85195203	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370010199	chr7:85195218-85195219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558075224	chr7:85195280-85195281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570312748	chr7:85195283-85195284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190978628	chr7:85195320-85195321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74480806	chr7:85195333-85195334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80229358	chr7:85195353-85195354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538257976	chr7:85195354-85195355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574050687	chr7:85195388-85195389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111640719	chr7:85195400-85195401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553386344	chr7:85195403-85195404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Williams Syndrome	20824207	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85193400-85195800	Enhancers	Fetal Lung	lung
2	chr7:85194200-85195000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:85194200-85196000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:85194400-85194800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:85194800-85196800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:85195800-85199600	Weak transcription	Fetal Lung	lung
7	chr7:85196800-85198200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:85198400-85198600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:85199600-85201000	Enhancers	Fetal Lung	lung
10	chr7:85201200-85201800	Enhancers	Fetal Kidney	kidney
11	chr7:85202800-85203200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr7:85202800-85204000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr7:85207600-85208600	Enhancers	Fetal Lung	lung
14	chr7:85208600-85208800	Active TSS	Fetal Lung	lung
15	chr7:85211200-85213000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr7:85212600-85213000	Enhancers	Fetal Heart	heart
17	chr7:85215600-85218000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:85216600-85217200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:85217000-85217400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:85218000-85218200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:85221400-85221800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:85221400-85222000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:85221800-85222800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:85222800-85223200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:85222800-85223200	Enhancers	Fetal Intestine Small	intestine
26	chr7:85223200-85223400	Enhancers	Fetal Lung	lung
27	chr7:85223200-85224600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:85224400-85224800	Weak transcription	Fetal Lung	lung
29	chr7:85224600-85225200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:85224800-85225400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:85224800-85225800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:85224800-85225800	Enhancers	A549	lung
33	chr7:85225000-85225400	Enhancers	Hela-S3	cervix
34	chr7:85225000-85225400	Enhancers	NHDF-Ad	bronchial
35	chr7:85225000-85225600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:85225000-85225600	Enhancers	Fetal Lung	lung
37	chr7:85225000-85225800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:85225200-85225600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:85225200-85225600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:85225200-85225800	Enhancers	Adipose Nuclei	Adipose
41	chr7:85225200-85227200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:85225600-85228800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:85225600-85229400	Weak transcription	Fetal Lung	lung
44	chr7:85225600-85229600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:85225800-85229800	Weak transcription	A549	lung
46	chr7:85227200-85229000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:85228000-85228400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:85228400-85228800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:85228800-85230600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:85228800-85230800	Enhancers	Cortex derived primary cultured neurospheres	brain

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