Variant report

Variant	nsv888660
Chromosome Location	chr7:85187214-85444989
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	ATF2	chr7:85435728-85435968	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr7:85324945-85325334	A549	lung:	n/a	n/a
5	ATF3	chr7:85324800-85325257	A549	lung:	n/a	n/a
6	BACH1	chr7:85229703-85230012	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:85362473-85362491	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr7:85343575-85343840	GM12878	blood:	n/a	n/a
9	BCL3	chr7:85349735-85350327	A549	lung:	n/a	n/a
10	BCL3	chr7:85324797-85325464	A549	lung:	n/a	n/a
11	BCL3	chr7:85221189-85221679	A549	lung:	n/a	n/a
12	BHLHE40	chr7:85343571-85343913	GM12878	blood:	n/a	n/a
13	BHLHE40	chr7:85221305-85221476	HepG2	liver:	n/a	n/a
14	BRCA1	chr7:85349322-85349783	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr7:85363774-85363793	Hela-S3	cervix:	n/a	n/a
16	CCNT2	chr7:85231581-85231835	K562	blood:	n/a	n/a
17	CEBPB	chr7:85356139-85356457	HepG2	liver:	n/a	chr7:85356296-85356307 chr7:85356297-85356306 chr7:85356297-85356306
18	CEBPB	chr7:85441740-85442067	HepG2	liver:	n/a	n/a
19	CEBPB	chr7:85229849-85230092	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr7:85260085-85260722	A549	lung:	n/a	n/a
21	CEBPB	chr7:85251491-85251687	A549	lung:	n/a	n/a
22	CEBPB	chr7:85278050-85278263	Hela-S3	cervix:	n/a	chr7:85278124-85278135
23	CEBPB	chr7:85362444-85362900	A549	lung:	n/a	n/a
24	CEBPB	chr7:85270520-85270828	A549	lung:	n/a	chr7:85270598-85270609
25	CEBPB	chr7:85349350-85350293	A549	lung:	n/a	n/a
26	CEBPB	chr7:85349420-85349797	A549	lung:	n/a	n/a
27	CEBPB	chr7:85312150-85312537	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr7:85402871-85402964	A549	lung:	n/a	chr7:85402918-85402931
29	CEBPB	chr7:85329869-85330155	A549	lung:	n/a	chr7:85330002-85330013
30	CEBPB	chr7:85349447-85350296	IMR90	lung:	n/a	n/a
31	CEBPB	chr7:85386827-85386956	A549	lung:	n/a	chr7:85386876-85386887
32	CEBPB	chr7:85266363-85266490	A549	lung:	n/a	n/a
33	CEBPB	chr7:85270505-85271102	Hela-S3	cervix:	n/a	chr7:85270598-85270609
34	CEBPB	chr7:85255501-85255560	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr7:85356135-85356429	A549	lung:	n/a	chr7:85356296-85356307 chr7:85356297-85356306 chr7:85356297-85356306
36	CEBPB	chr7:85349794-85350323	HCT-116	colon:	n/a	n/a
37	CEBPB	chr7:85270494-85270984	IMR90	lung:	n/a	chr7:85270598-85270609
38	CEBPB	chr7:85324928-85325276	A549	lung:	n/a	n/a
39	CEBPB	chr7:85356130-85356426	IMR90	lung:	n/a	chr7:85356296-85356307 chr7:85356297-85356306 chr7:85356297-85356306
40	CEBPB	chr7:85332203-85332416	HepG2	liver:	n/a	chr7:85332259-85332270
41	CEBPB	chr7:85324745-85325466	A549	lung:	n/a	n/a
42	CEBPB	chr7:85277974-85278295	IMR90	lung:	n/a	chr7:85278124-85278135
43	CEBPB	chr7:85225271-85225515	IMR90	lung:	n/a	n/a
44	CEBPB	chr7:85386794-85387014	HepG2	liver:	n/a	chr7:85386876-85386887
45	CEBPB	chr7:85224999-85225591	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr7:85401038-85401262	HepG2	liver:	n/a	chr7:85401150-85401161 chr7:85401133-85401144 chr7:85401147-85401164
47	CEBPB	chr7:85270672-85270912	MCF-7	breast:	n/a	n/a
48	CEBPB	chr7:85349214-85350369	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr7:85402437-85403115	IMR90	lung:	n/a	chr7:85402918-85402931
50	CEBPB	chr7:85260258-85260678	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:85253799..85255323-chr7:85392933..85394931,2	K562	blood:
2	chr7:85315775..85319352-chr7:85321463..85324593,3	K562	blood:
3	chr7:85393175..85394828-chr7:85402335..85404296,2	K562	blood:
4	chr7:85183273..85184394-chr7:85379037..85380205,4	MCF-7	breast:
5	chr7:85283178..85285409-chr7:85295868..85298479,2	K562	blood:
6	chr7:85308217..85310976-chr7:85319163..85322845,3	K562	blood:
7	chr7:84670634..84671600-chr7:85379520..85380121,2	MCF-7	breast:
8	chr12:7024083..7024583-chr7:85192420..85193063,2	MCF-7	breast:
9	chr7:85224212..85226454-chr7:85229348..85230972,2	MCF-7	breast:
10	chr7:85253799..85255323-chr7:85392933..85394931,2	K562	blood:
11	chr7:85153959..85156643-chr7:85186340..85188558,2	K562	blood:
12	chr7:85224212..85226454-chr7:85229348..85230972,2	MCF-7	breast:
13	chr7:85393175..85394828-chr7:85402335..85404296,2	K562	blood:
14	chr7:85308217..85310976-chr7:85319163..85322845,3	K562	blood:
15	chr7:85373526..85376335-chr7:85378810..85381383,2	K562	blood:
16	chr7:85373526..85376335-chr7:85378810..85381383,2	K562	blood:
17	chr7:85324970..85325867-chr9:91930662..91931441,2	HCT-116	colon:
18	chr7:85283178..85285409-chr7:85295868..85298479,2	K562	blood:
19	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
ENSG00000111674	chromatin interactions
ENSG00000153993	chromatin interactions

Extended variants
information (count: 5201 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:5201 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10252987	chr7:85187214-85187215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139659500	chr7:85187254-85187255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115045708	chr7:85187276-85187277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62459747	chr7:85187357-85187358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550166561	chr7:85187419-85187420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568422729	chr7:85187432-85187433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529412460	chr7:85187477-85187478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547960220	chr7:85187486-85187487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181045302	chr7:85187487-85187488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185126785	chr7:85187682-85187683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545070901	chr7:85187698-85187699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563455033	chr7:85187704-85187705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145266199	chr7:85187716-85187717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570739745	chr7:85187739-85187740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537402112	chr7:85187749-85187750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189875932	chr7:85187757-85187758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7801592	chr7:85187817-85187818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574396491	chr7:85187864-85187865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541515044	chr7:85187926-85187927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182562614	chr7:85187934-85187935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572284389	chr7:85187953-85187954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187590501	chr7:85187963-85187964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191917541	chr7:85187989-85187990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150985671	chr7:85187991-85187992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183752895	chr7:85188022-85188023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559531608	chr7:85188028-85188029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187353871	chr7:85188072-85188073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562113247	chr7:85188082-85188083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529338143	chr7:85188084-85188085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191811300	chr7:85188119-85188120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566197881	chr7:85188141-85188142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527446432	chr7:85188146-85188147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182816858	chr7:85188200-85188201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187133296	chr7:85188265-85188266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140857595	chr7:85188383-85188384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192766260	chr7:85188405-85188406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184250270	chr7:85188424-85188425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149750440	chr7:85188435-85188436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190690822	chr7:85188462-85188463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561192249	chr7:85188468-85188469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117420514	chr7:85188507-85188508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553423935	chr7:85188530-85188531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11771641	chr7:85188547-85188548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559066734	chr7:85188567-85188568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558335899	chr7:85188624-85188625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576609361	chr7:85188636-85188637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544086889	chr7:85188654-85188655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562270137	chr7:85188695-85188696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529273519	chr7:85188732-85188733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145441336	chr7:85188737-85188738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Acute lymphoblastic leukemia	21339820	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85184600-85193400	Weak transcription	Fetal Lung	lung
2	chr7:85193200-85193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:85193400-85194000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr7:85193400-85194400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:85193400-85195800	Enhancers	Fetal Lung	lung
6	chr7:85194200-85195000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:85194200-85196000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:85194400-85194800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:85194800-85196800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:85195800-85199600	Weak transcription	Fetal Lung	lung
11	chr7:85196800-85198200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:85198400-85198600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:85199600-85201000	Enhancers	Fetal Lung	lung
14	chr7:85201200-85201800	Enhancers	Fetal Kidney	kidney
15	chr7:85202800-85203200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:85202800-85204000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr7:85207600-85208600	Enhancers	Fetal Lung	lung
18	chr7:85208600-85208800	Active TSS	Fetal Lung	lung
19	chr7:85211200-85213000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:85212600-85213000	Enhancers	Fetal Heart	heart
21	chr7:85215600-85218000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:85216600-85217200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:85217000-85217400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:85218000-85218200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:85221400-85221800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:85221400-85222000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:85221800-85222800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:85222800-85223200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:85222800-85223200	Enhancers	Fetal Intestine Small	intestine
30	chr7:85223200-85223400	Enhancers	Fetal Lung	lung
31	chr7:85223200-85224600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:85224400-85224800	Weak transcription	Fetal Lung	lung
33	chr7:85224600-85225200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:85224800-85225400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:85224800-85225800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:85224800-85225800	Enhancers	A549	lung
37	chr7:85225000-85225400	Enhancers	Hela-S3	cervix
38	chr7:85225000-85225400	Enhancers	NHDF-Ad	bronchial
39	chr7:85225000-85225600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:85225000-85225600	Enhancers	Fetal Lung	lung
41	chr7:85225000-85225800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:85225200-85225600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:85225200-85225600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:85225200-85225800	Enhancers	Adipose Nuclei	Adipose
45	chr7:85225200-85227200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:85225600-85228800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:85225600-85229400	Weak transcription	Fetal Lung	lung
48	chr7:85225600-85229600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:85225800-85229800	Weak transcription	A549	lung
50	chr7:85227200-85229000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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