Variant report

Variant	nsv4436
Chromosome Location	chr4:98960857-99006834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:98998918-98999191	HepG2	liver:	n/a	chr4:98999042-98999051 chr4:98999042-98999051 chr4:98999042-98999051 chr4:98999041-98999052 chr4:98999040-98999051 chr4:98999042-98999051 chr4:98999040-98999053
2	CEBPB	chr4:98975792-98975954	HepG2	liver:	n/a	chr4:98975918-98975929
3	CEBPB	chr4:98989787-98989990	HepG2	liver:	n/a	chr4:98989872-98989883
4	CEBPB	chr4:99005909-99006159	IMR90	lung:	n/a	chr4:99006022-99006033
5	CEBPB	chr4:99005951-99006103	A549	lung:	n/a	chr4:99006022-99006033
6	CEBPB	chr4:99005881-99006191	HepG2	liver:	n/a	chr4:99006022-99006033
7	CEBPB	chr4:98973085-98973241	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr4:98999062-98999081	K562	blood:	n/a	n/a
9	CEBPB	chr4:98967948-98968326	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr4:99001733-99001756	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr4:98977460-98977610	A549	lung:	n/a	n/a
12	CTCF	chr4:98977380-98977530	GM12871	blood:	n/a	n/a
13	CTCF	chr4:98968020-98968170	HCT-116	colon:	n/a	n/a
14	CTCF	chr4:98977420-98977570	GM12872	blood:	n/a	n/a
15	CTCF	chr4:98977460-98977610	GM12873	blood:	n/a	n/a
16	CTCF	chr4:98977360-98977510	HMEC	breast:	n/a	n/a
17	CTCF	chr4:98977466-98977500	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr4:98968000-98968150	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr4:98977440-98977590	HEK293	kidney:	n/a	n/a
20	CTCF	chr4:98977393-98977586	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr4:98967940-98968090	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:98977460-98977610	HCT-116	colon:	n/a	n/a
23	CTCF	chr4:98977407-98977563	MCF-7	breast:	n/a	n/a
24	CTCF	chr4:98969680-98969730	GM20000	blood:	n/a	n/a
25	CTCF	chr4:98977461-98977509	MCF-7	breast:	n/a	n/a
26	CTCF	chr4:98977380-98977530	GM12869	blood:	n/a	n/a
27	CTCF	chr4:98977420-98977570	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr4:98967960-98968110	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr4:98977429-98977541	NHEK	skin:	n/a	n/a
30	CTCF	chr4:98968020-98968170	BE2_C	brain:	n/a	n/a
31	CTCF	chr4:98967960-98968110	RPTEC	kidney:	n/a	n/a
32	CTCF	chr4:98967980-98968130	HMEC	breast:	n/a	n/a
33	CTCF	chr4:98965684-98965719	GM13976	blood:	n/a	n/a
34	CTCF	chr4:98977436-98977519	GM12891	blood:	n/a	n/a
35	CTCF	chr4:98977437-98977516	Fibrobl	skin:	n/a	n/a
36	CTCF	chr4:98977360-98977510	BE2_C	brain:	n/a	n/a
37	CTCF	chr4:98977400-98977550	GM12872	blood:	n/a	n/a
38	CTCF	chr4:98977360-98977510	HEK293	kidney:	n/a	n/a
39	CTCF	chr4:98977520-98977670	GM12872	blood:	n/a	n/a
40	CTCF	chr4:98967969-98968063	MCF-7	breast:	n/a	n/a
41	CTCF	chr4:98977400-98977549	HepG2	liver:	n/a	n/a
42	CTCF	chr4:98977420-98977570	GM12864	blood:	n/a	n/a
43	CTCF	chr4:98977440-98977590	Caco-2	colon:	n/a	n/a
44	CTCF	chr4:98977400-98977550	GM12874	blood:	n/a	n/a
45	CTCF	chr4:98967901-98968222	MCF-7	breast:	n/a	n/a
46	CTCF	chr4:98977400-98977550	GM12867	blood:	n/a	n/a
47	CTCF	chr4:98967920-98968187	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr4:98977400-98977550	SAEC	small airway:	n/a	n/a
49	CTCF	chr4:98967872-98968147	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr4:98967934-98968112	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99001766..99003673-chr4:99063340..99066059,2	MCF-7	breast:
2	chr4:98995356..98997429-chr4:98998775..99000432,2	MCF-7	breast:
3	chr4:98967509..98968412-chr4:99013843..99014513,4	MCF-7	breast:
4	chr4:98995356..98997429-chr4:98998775..99000432,2	MCF-7	breast:
5	chr4:99002780..99005606-chr4:99010089..99012416,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAP1GDS1-6	chr4:98969706-98970194	NONHSAT097481

No data

Variant related genes	Relation type
DUTP8	TF binding region
ENSG00000163116	chromatin interactions

Extended variants
information (count: 302 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7677523	chr4:98965696-98965697	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553699743	chr4:98965777-98965778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs572252182	chr4:98965813-98965814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs149671813	chr4:98965832-98965833	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs112925068	chr4:98965882-98965883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531799417	chr4:98965891-98965892	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs188942445	chr4:98965894-98965895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs182075289	chr4:98965911-98965912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs191466877	chr4:98967404-98967405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541034305	chr4:98967444-98967445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531607284	chr4:98967465-98967466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4699323	chr4:98967484-98967485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs577936838	chr4:98967490-98967491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4699324	chr4:98967496-98967497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146861852	chr4:98967546-98967547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140669345	chr4:98967597-98967598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547512533	chr4:98967602-98967603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531111468	chr4:98967610-98967611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549655803	chr4:98967629-98967630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572787486	chr4:98967706-98967707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183684454	chr4:98967782-98967783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188604013	chr4:98967785-98967786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559485924	chr4:98967854-98967855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565646744	chr4:98967904-98967905	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs1527516	chr4:98967937-98967938	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551681243	chr4:98967962-98967963	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs540162430	chr4:98968017-98968018	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs7666738	chr4:98968077-98968078	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs145748041	chr4:98968088-98968089	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs567749869	chr4:98968110-98968111	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs7691433	chr4:98968118-98968119	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs552961970	chr4:98968122-98968123	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs146642379	chr4:98968151-98968152	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs545320755	chr4:98968192-98968193	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs557629866	chr4:98968224-98968225	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs368465616	chr4:98968251-98968252	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs116389570	chr4:98968265-98968266	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs141078732	chr4:98968296-98968297	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs35271750	chr4:98968311-98968312	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs558299854	chr4:98968432-98968433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550561892	chr4:98968449-98968450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142781383	chr4:98968474-98968475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567298310	chr4:98968483-98968484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192462093	chr4:98968484-98968485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182279538	chr4:98968486-98968487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13118892	chr4:98968497-98968498	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532956157	chr4:98968507-98968508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186934221	chr4:98968509-98968510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150201673	chr4:98968544-98968545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13118945	chr4:98968586-98968587	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
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
Gastric cancer	16891809	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98967400-98968600	Enhancers	HSMMtube	muscle
2	chr4:98968000-98968400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:98968000-98968600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:98968000-98968600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:98968200-98968400	ZNF genes & repeats	Pancreas	Pancrea
6	chr4:98968200-98968600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:98968400-98972000	Weak transcription	Pancreas	Pancrea
8	chr4:98982400-98982800	Enhancers	Dnd41	blood
9	chr4:98998600-99000000	Enhancers	Dnd41	blood

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