Variant report

Variant	nsv888666
Chromosome Location	chr7:85206084-85356773
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	ATF1	chr7:85210707-85210842	K562	blood:	n/a	n/a
2	ATF3	chr7:85324800-85325257	A549	lung:	n/a	n/a
3	ATF3	chr7:85324945-85325334	A549	lung:	n/a	n/a
4	BACH1	chr7:85229703-85230012	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr7:85343575-85343840	GM12878	blood:	n/a	n/a
6	BCL3	chr7:85221189-85221679	A549	lung:	n/a	n/a
7	BCL3	chr7:85324797-85325464	A549	lung:	n/a	n/a
8	BCL3	chr7:85349735-85350327	A549	lung:	n/a	n/a
9	BHLHE40	chr7:85221305-85221476	HepG2	liver:	n/a	n/a
10	BHLHE40	chr7:85343571-85343913	GM12878	blood:	n/a	n/a
11	BRCA1	chr7:85349322-85349783	Hela-S3	cervix:	n/a	n/a
12	CCNT2	chr7:85231581-85231835	K562	blood:	n/a	n/a
13	CEBPB	chr7:85349350-85350293	A549	lung:	n/a	n/a
14	CEBPB	chr7:85349263-85350401	A549	lung:	n/a	n/a
15	CEBPB	chr7:85229849-85230092	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr7:85277952-85278313	HepG2	liver:	n/a	chr7:85278124-85278135
17	CEBPB	chr7:85270672-85270912	MCF-7	breast:	n/a	n/a
18	CEBPB	chr7:85266317-85266413	HepG2	liver:	n/a	n/a
19	CEBPB	chr7:85349794-85350323	HCT-116	colon:	n/a	n/a
20	CEBPB	chr7:85329869-85330155	A549	lung:	n/a	chr7:85330002-85330013
21	CEBPB	chr7:85332203-85332416	HepG2	liver:	n/a	chr7:85332259-85332270
22	CEBPB	chr7:85270494-85270984	IMR90	lung:	n/a	chr7:85270598-85270609
23	CEBPB	chr7:85324856-85325329	MCF-7	breast:	n/a	n/a
24	CEBPB	chr7:85356135-85356429	A549	lung:	n/a	chr7:85356296-85356307 chr7:85356297-85356306 chr7:85356297-85356306
25	CEBPB	chr7:85329851-85330178	IMR90	lung:	n/a	chr7:85330002-85330013
26	CEBPB	chr7:85312150-85312537	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr7:85251491-85251687	A549	lung:	n/a	n/a
28	CEBPB	chr7:85278050-85278263	Hela-S3	cervix:	n/a	chr7:85278124-85278135
29	CEBPB	chr7:85266363-85266490	A549	lung:	n/a	n/a
30	CEBPB	chr7:85349447-85350296	IMR90	lung:	n/a	n/a
31	CEBPB	chr7:85322611-85322860	Hela-S3	cervix:	n/a	chr7:85322711-85322722 chr7:85322711-85322724 chr7:85322713-85322722
32	CEBPB	chr7:85324928-85325276	A549	lung:	n/a	n/a
33	CEBPB	chr7:85356130-85356426	IMR90	lung:	n/a	chr7:85356296-85356307 chr7:85356297-85356306 chr7:85356297-85356306
34	CEBPB	chr7:85288718-85289013	Hela-S3	cervix:	n/a	chr7:85288866-85288883 chr7:85288926-85288937
35	CEBPB	chr7:85225271-85225515	IMR90	lung:	n/a	n/a
36	CEBPB	chr7:85324871-85325311	MCF-7	breast:	n/a	n/a
37	CEBPB	chr7:85324852-85325324	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr7:85324745-85325466	A549	lung:	n/a	n/a
39	CEBPB	chr7:85277985-85278260	A549	lung:	n/a	chr7:85278124-85278135
40	CEBPB	chr7:85270520-85270828	A549	lung:	n/a	chr7:85270598-85270609
41	CEBPB	chr7:85260085-85260722	A549	lung:	n/a	n/a
42	CEBPB	chr7:85350014-85350216	HepG2	liver:	n/a	n/a
43	CEBPB	chr7:85324928-85325290	A549	lung:	n/a	n/a
44	CEBPB	chr7:85260258-85260678	HepG2	liver:	n/a	n/a
45	CEBPB	chr7:85332164-85332443	IMR90	lung:	n/a	chr7:85332259-85332270
46	CEBPB	chr7:85329862-85330164	HepG2	liver:	n/a	chr7:85330002-85330013
47	CEBPB	chr7:85349420-85349797	A549	lung:	n/a	n/a
48	CEBPB	chr7:85329881-85330071	H1-hESC	embryonic stem cell:	n/a	chr7:85330002-85330013
49	CEBPB	chr7:85332157-85332447	K562	blood:	n/a	chr7:85332259-85332270
50	CEBPB	chr7:85349363-85349820	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:85253799..85255323-chr7:85392933..85394931,2	K562	blood:
2	chr7:85224212..85226454-chr7:85229348..85230972,2	MCF-7	breast:
3	chr7:85315775..85319352-chr7:85321463..85324593,3	K562	blood:
4	chr7:85283178..85285409-chr7:85295868..85298479,2	K562	blood:
5	chr7:85224212..85226454-chr7:85229348..85230972,2	MCF-7	breast:
6	chr7:85324970..85325867-chr9:91930662..91931441,2	HCT-116	colon:
7	chr7:85308217..85310976-chr7:85319163..85322845,3	K562	blood:
8	chr7:85315775..85319352-chr7:85321463..85324593,3	K562	blood:
9	chr7:85308217..85310976-chr7:85319163..85322845,3	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: 3094 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3094 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148946235	chr7:85207610-85207611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190826799	chr7:85207613-85207614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182958255	chr7:85207633-85207634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372424159	chr7:85207640-85207641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10262932	chr7:85207668-85207669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187304022	chr7:85207670-85207671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369066026	chr7:85207726-85207727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145727783	chr7:85207731-85207732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28456125	chr7:85207738-85207739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4360225	chr7:85207788-85207789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191300537	chr7:85207864-85207865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576410176	chr7:85207879-85207880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537131680	chr7:85207923-85207924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561578782	chr7:85208039-85208040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373260588	chr7:85208057-85208058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532982511	chr7:85208071-85208072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4728593	chr7:85208170-85208171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377276157	chr7:85208181-85208182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574502233	chr7:85208196-85208197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368746351	chr7:85208223-85208224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538837917	chr7:85208227-85208228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559955905	chr7:85208241-85208242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572008760	chr7:85208281-85208282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538199501	chr7:85208306-85208307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563408571	chr7:85208331-85208332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545723273	chr7:85208347-85208348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563725811	chr7:85208358-85208359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541147160	chr7:85208367-85208368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542855650	chr7:85208368-85208369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549581836	chr7:85208369-85208370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561822542	chr7:85208609-85208610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs564206223	chr7:85208666-85208667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs529423663	chr7:85208667-85208668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs372691262	chr7:85208719-85208720	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566323810	chr7:85208722-85208723	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs540116077	chr7:85208754-85208755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs373125269	chr7:85208774-85208775	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs13236680	chr7:85208792-85208793	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73377931	chr7:85211211-85211212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7793165	chr7:85211235-85211236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7812104	chr7:85211245-85211246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536391875	chr7:85211292-85211293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554717724	chr7:85211298-85211299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573132839	chr7:85211420-85211421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373247182	chr7:85211451-85211452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4727105	chr7:85211462-85211463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558844505	chr7:85211484-85211485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577120874	chr7:85211503-85211504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563767313	chr7:85211517-85211518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544289409	chr7:85211534-85211535	Enhancers	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:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85207600-85208600	Enhancers	Fetal Lung	lung
2	chr7:85208600-85208800	Active TSS	Fetal Lung	lung
3	chr7:85211200-85213000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr7:85212600-85213000	Enhancers	Fetal Heart	heart
5	chr7:85215600-85218000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:85216600-85217200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:85217000-85217400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:85218000-85218200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:85221400-85221800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:85221400-85222000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:85221800-85222800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:85222800-85223200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:85222800-85223200	Enhancers	Fetal Intestine Small	intestine
14	chr7:85223200-85223400	Enhancers	Fetal Lung	lung
15	chr7:85223200-85224600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:85224400-85224800	Weak transcription	Fetal Lung	lung
17	chr7:85224600-85225200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:85224800-85225400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:85224800-85225800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:85224800-85225800	Enhancers	A549	lung
21	chr7:85225000-85225400	Enhancers	Hela-S3	cervix
22	chr7:85225000-85225400	Enhancers	NHDF-Ad	bronchial
23	chr7:85225000-85225600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:85225000-85225600	Enhancers	Fetal Lung	lung
25	chr7:85225000-85225800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:85225200-85225600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:85225200-85225600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:85225200-85225800	Enhancers	Adipose Nuclei	Adipose
29	chr7:85225200-85227200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:85225600-85228800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:85225600-85229400	Weak transcription	Fetal Lung	lung
32	chr7:85225600-85229600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:85225800-85229800	Weak transcription	A549	lung
34	chr7:85227200-85229000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:85228000-85228400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:85228400-85228800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:85228800-85230600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:85228800-85230800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:85229000-85229600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:85229000-85230600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:85229000-85230800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:85229400-85230600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:85229400-85232200	Enhancers	Fetal Lung	lung
44	chr7:85229600-85230000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:85229600-85230200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:85229600-85230400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:85229600-85230600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:85229600-85230600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr7:85229800-85230000	Enhancers	A549	lung
50	chr7:85229800-85230800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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