Variant report

Variant	nsv932060
Chromosome Location	chr4:98696832-98902498
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	BACH1	chr4:98831268-98831463	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr4:98832733-98832877	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr4:98778907-98779234	IMR90	lung:	n/a	chr4:98779056-98779067
4	CEBPB	chr4:98795872-98796026	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr4:98748818-98748844	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr4:98863376-98863833	HCT-116	colon:	n/a	n/a
7	CEBPB	chr4:98766860-98767235	H1-hESC	embryonic stem cell:	n/a	chr4:98767092-98767109
8	CEBPB	chr4:98849976-98850238	IMR90	lung:	n/a	n/a
9	CEBPB	chr4:98778997-98779197	K562	blood:	n/a	chr4:98779056-98779067
10	CEBPB	chr4:98898912-98899245	HepG2	liver:	n/a	chr4:98899094-98899105
11	CEBPB	chr4:98778897-98779215	HepG2	liver:	n/a	chr4:98779056-98779067
12	CTCF	chr4:98832800-98832950	HepG2	liver:	n/a	n/a
13	CTCF	chr4:98831280-98831430	HEK293	kidney:	n/a	chr4:98831342-98831355
14	CTCF	chr4:98858920-98859070	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr4:98832820-98832970	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr4:98831140-98831290	GM12864	blood:	n/a	n/a
17	CTCF	chr4:98831240-98831390	HBMEC	blood vessel:	n/a	chr4:98831342-98831355
18	CTCF	chr4:98844753-98844794	GM20000	blood:	n/a	n/a
19	CTCF	chr4:98775001-98775069	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr4:98831300-98831450	NB4	blood:	n/a	chr4:98831342-98831355
21	CTCF	chr4:98831240-98831390	GM12865	blood:	n/a	chr4:98831342-98831355
22	CTCF	chr4:98831280-98831430	HCT-116	colon:	n/a	chr4:98831342-98831355
23	CTCF	chr4:98831280-98831430	GM12872	blood:	n/a	chr4:98831342-98831355
24	CTCF	chr4:98831260-98831410	WERI-Rb-1	eye:	n/a	chr4:98831342-98831355
25	CTCF	chr4:98831240-98831390	SAEC	small airway:	n/a	chr4:98831342-98831355
26	CTCF	chr4:98831289-98831429	LNCaP	prostate:	n/a	chr4:98831342-98831355
27	CTCF	chr4:98831280-98831400	Hela-S3	cervix:	n/a	chr4:98831342-98831355
28	CTCF	chr4:98831280-98831430	GM12868	blood:	n/a	chr4:98831342-98831355
29	CTCF	chr4:98831320-98831470	GM12864	blood:	n/a	chr4:98831342-98831355
30	CTCF	chr4:98831260-98831410	HRPEpiC	eye:	n/a	chr4:98831342-98831355
31	CTCF	chr4:98809441-98809476	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr4:98831240-98831390	SK-N-SH_RA	brain:	n/a	chr4:98831342-98831355
33	CTCF	chr4:98832799-98832940	Gliobla	brain:	n/a	n/a
34	CTCF	chr4:98831240-98831390	GM12875	blood:	n/a	chr4:98831342-98831355
35	CTCF	chr4:98831280-98831430	HEEpiC	esophagus:	n/a	chr4:98831342-98831355
36	CTCF	chr4:98895798-98895881	GM13976	blood:	n/a	n/a
37	CTCF	chr4:98831287-98831377	SK-N-SH_RA	brain:	n/a	chr4:98831342-98831355
38	CTCF	chr4:98872311-98872378	GM20000	blood:	n/a	n/a
39	CTCF	chr4:98832780-98832930	RPTEC	kidney:	n/a	n/a
40	CTCF	chr4:98831240-98831434	H1-hESC	embryonic stem cell:	n/a	chr4:98831342-98831355
41	CTCF	chr4:98831280-98831430	BE2_C	brain:	n/a	chr4:98831342-98831355
42	CTCF	chr4:98831280-98831430	SK-N-SH_RA	brain:	n/a	chr4:98831342-98831355
43	CTCF	chr4:98832820-98832970	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr4:98832780-98832930	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr4:98831182-98831512	GM12878	blood:	n/a	chr4:98831342-98831355
46	CTCF	chr4:98831328-98831370	GM12892	blood:	n/a	chr4:98831342-98831355
47	CTCF	chr4:98831250-98831442	Gliobla	brain:	n/a	chr4:98831342-98831355
48	CTCF	chr4:98831260-98831410	SAEC	small airway:	n/a	chr4:98831342-98831355
49	CTCF	chr4:98831260-98831410	GM06990	blood:	n/a	chr4:98831342-98831355
50	CTCF	chr4:98831280-98831430	Caco-2	colon:	n/a	chr4:98831342-98831355

No.	Distal block	Cell Line	Cell type
1	chr4:98790810..98793729-chr4:98795373..98798047,2	K562	blood:
2	chr4:98790810..98793729-chr4:98795373..98798047,2	K562	blood:
3	chr4:98765331..98767165-chr4:99012892..99015543,2	K562	blood:
4	chr4:98896668..98898608-chr4:98901811..98903490,2	K562	blood:
5	chr4:98896668..98898608-chr4:98901811..98903490,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN5-3	chr4:98814203-98814354	NONHSAT097477

Variant related genes	Relation type
STPG2	TF binding region
CRYZP2	TF binding region

Extended variants
information (count: 3066 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3066 , 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	rs137978079	chr4:98696843-98696844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562736557	chr4:98696871-98696872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545759392	chr4:98696873-98696874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547383526	chr4:98696883-98696884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182992529	chr4:98696899-98696900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565571342	chr4:98696942-98696943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531596797	chr4:98696976-98696977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76933551	chr4:98697036-98697037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187895596	chr4:98697094-98697095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191683340	chr4:98697117-98697118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529050572	chr4:98697164-98697165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs356548	chr4:98697165-98697166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143753119	chr4:98697179-98697180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539478475	chr4:98697189-98697190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551725501	chr4:98697236-98697237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548520262	chr4:98697269-98697270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537710767	chr4:98697289-98697290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184233196	chr4:98697321-98697322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527388455	chr4:98697324-98697325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376270482	chr4:98697336-98697337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574333607	chr4:98697342-98697343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3852122	chr4:98697400-98697401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572077133	chr4:98697490-98697491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3852123	chr4:98697586-98697587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs77160027	chr4:98697603-98697604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576258689	chr4:98697723-98697724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111825244	chr4:98697732-98697733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561637942	chr4:98697739-98697740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529088114	chr4:98697754-98697755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187382129	chr4:98697756-98697757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73832103	chr4:98697761-98697762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558737478	chr4:98697769-98697770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192163836	chr4:98697838-98697839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533431345	chr4:98697845-98697846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551494858	chr4:98697856-98697857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569987791	chr4:98697860-98697861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530809826	chr4:98697894-98697895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549741364	chr4:98698003-98698004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534677044	chr4:98698056-98698057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567946966	chr4:98698090-98698091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2600611	chr4:98698155-98698156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2605538	chr4:98698224-98698225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138581711	chr4:98698232-98698233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374406046	chr4:98698241-98698242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565645856	chr4:98698272-98698273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10461174	chr4:98698293-98698294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542933489	chr4:98698392-98698393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75080763	chr4:98698449-98698450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74385830	chr4:98698463-98698464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74906196	chr4:98698477-98698478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98693000-98699000	Weak transcription	Pancreas	Pancrea
2	chr4:98699400-98699600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:98699600-98700000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:98707400-98711200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:98711200-98711800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:98725000-98725400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:98730400-98730800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:98730400-98730800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:98730800-98732000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:98732200-98732400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:98738200-98741200	Enhancers	HUVEC	blood vessel
12	chr4:98756800-98757200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:98760000-98761000	Enhancers	Dnd41	blood
14	chr4:98760800-98761000	Enhancers	Liver	Liver
15	chr4:98762800-98763400	Enhancers	Liver	Liver
16	chr4:98763000-98764000	Enhancers	HUVEC	blood vessel
17	chr4:98763400-98767000	Weak transcription	Liver	Liver
18	chr4:98763800-98767000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:98766600-98767400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:98766600-98767400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:98766600-98768000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:98766800-98767400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:98767000-98767400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:98767000-98767400	Active TSS	Liver	Liver
25	chr4:98767000-98767600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:98767200-98767400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:98767200-98767400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:98767200-98767600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:98767400-98768600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:98767400-98768600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:98767400-98768600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:98767400-98772200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:98767600-98768800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:98768000-98768800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:98768000-98769200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:98768600-98769600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:98768600-98769800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:98768800-98769000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:98768800-98769400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr4:98768800-98769800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:98769000-98769800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr4:98772200-98772600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:98787200-98787400	Enhancers	Fetal Kidney	kidney
44	chr4:98787200-98788200	Enhancers	Liver	Liver
45	chr4:98787400-98788800	Weak transcription	Fetal Kidney	kidney
46	chr4:98788000-98788200	Enhancers	Pancreas	Pancrea
47	chr4:98788200-98789400	Flanking Active TSS	Liver	Liver
48	chr4:98788400-98789000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr4:98788400-98789400	Enhancers	Brain Germinal Matrix	brain
50	chr4:98788400-98789600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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