Variant report

Variant	esv1797417
Chromosome Location	chr4:165826948-165844648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:165834764-165834970	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:165834769-165834969	K562	blood:	n/a	n/a
3	CTCF	chr4:165834720-165834870	GM12864	blood:	n/a	n/a
4	CTCF	chr4:165834680-165834830	RPTEC	kidney:	n/a	n/a
5	CTCF	chr4:165834680-165834830	GM12866	blood:	n/a	n/a
6	CTCF	chr4:165834880-165835030	GM12868	blood:	n/a	n/a
7	CTCF	chr4:165834920-165835070	MCF-7	breast:	n/a	n/a
8	CTCF	chr4:165834780-165834930	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr4:165834769-165834906	ProgFib	skin:	n/a	n/a
10	CTCF	chr4:165834780-165834930	GM12878	blood:	n/a	n/a
11	CTCF	chr4:165834821-165834878	NHEK	skin:	n/a	n/a
12	CTCF	chr4:165834860-165835010	GM12866	blood:	n/a	n/a
13	CTCF	chr4:165834779-165834909	HepG2	liver:	n/a	n/a
14	CTCF	chr4:165834763-165834933	Gliobla	brain:	n/a	n/a
15	CTCF	chr4:165834800-165834950	GM12872	blood:	n/a	n/a
16	CTCF	chr4:165834760-165834910	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr4:165834748-165834970	GM12878	blood:	n/a	n/a
18	CTCF	chr4:165834732-165834957	K562	blood:	n/a	n/a
19	CTCF	chr4:165834880-165835030	RPTEC	kidney:	n/a	n/a
20	CTCF	chr4:165834718-165835018	GM12878	blood:	n/a	n/a
21	CTCF	chr4:165834794-165834943	GM13977	blood:	n/a	n/a
22	CTCF	chr4:165834780-165834930	GM12865	blood:	n/a	n/a
23	CTCF	chr4:165834740-165834890	GM12873	blood:	n/a	n/a
24	CTCF	chr4:165834780-165834930	GM12874	blood:	n/a	n/a
25	CTCF	chr4:165834711-165834919	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr4:165834760-165834910	HAc	cerebellar:	n/a	n/a
27	CTCF	chr4:165834762-165834944	Medullo	brain:	n/a	n/a
28	CTCF	chr4:165834710-165834999	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr4:165834720-165834870	GM12867	blood:	n/a	n/a
30	CTCF	chr4:165834747-165834912	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr4:165834709-165834940	K562	blood:	n/a	n/a
32	CTCF	chr4:165834780-165834930	GM12864	blood:	n/a	n/a
33	CTCF	chr4:165834720-165834870	GM12872	blood:	n/a	n/a
34	CTCF	chr4:165834778-165834913	GM19239	blood:	n/a	n/a
35	CTCF	chr4:165834780-165834930	GM06990	blood:	n/a	n/a
36	CTCF	chr4:165834700-165834850	GM12869	blood:	n/a	n/a
37	CTCF	chr4:165834814-165834956	LNCaP	prostate:	n/a	n/a
38	CTCF	chr4:165834680-165834830	MCF-7	breast:	n/a	n/a
39	CTCF	chr4:165834760-165834910	HEK293	kidney:	n/a	n/a
40	CTCF	chr4:165834772-165834937	GM20000	blood:	n/a	n/a
41	CTCF	chr4:165834760-165834910	Caco-2	colon:	n/a	n/a
42	CTCF	chr4:165834785-165834906	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr4:165834857-165834929	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr4:165834880-165835030	GM06990	blood:	n/a	n/a
45	CTCF	chr4:165834773-165834930	LNCaP	prostate:	n/a	n/a
46	CTCF	chr4:165837198-165837238	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr4:165834780-165834930	GM12872	blood:	n/a	n/a
48	CTCF	chr4:165834772-165834945	MCF-7	breast:	n/a	n/a
49	CTCF	chr4:165834760-165834910	GM12878	blood:	n/a	n/a
50	CTCF	chr4:165834788-165834928	GM10248	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:165833603..165835632-chr4:165838442..165840941,2	MCF-7	breast:
2	chr4:165833603..165835632-chr4:165838442..165840941,2	MCF-7	breast:
3	chr4:165830577..165832077-chr7:25164613..25166543,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM61-5	chr4:165841770-165842215	NONHSAT099088
2	lnc-C4orf39-6	chr4:165836717-165838135	NONHSAT099087

No data

Variant related genes	Relation type
TRIM60P14	TF binding region
ENSG00000244146	TF binding region
ENSG00000172115	chromatin interactions

Extended variants
information (count: 484 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193191309	chr4:165826953-165826954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534281463	chr4:165826955-165826956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185095609	chr4:165826967-165826968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188441794	chr4:165826986-165826987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28415564	chr4:165827009-165827010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs28611087	chr4:165827015-165827016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs28440034	chr4:165827064-165827065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545399220	chr4:165827074-165827075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563729865	chr4:165827086-165827087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528219008	chr4:165827094-165827095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138398303	chr4:165827118-165827119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571767067	chr4:165827181-165827182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62355803	chr4:165827216-165827217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529099542	chr4:165827217-165827218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550473452	chr4:165827235-165827236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6849706	chr4:165827236-165827237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539701302	chr4:165827292-165827293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375487063	chr4:165827302-165827303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551843084	chr4:165827306-165827307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566871311	chr4:165827331-165827332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6831544	chr4:165827370-165827371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148026636	chr4:165827378-165827379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574016966	chr4:165827390-165827391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149160043	chr4:165827407-165827408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12649227	chr4:165827415-165827416	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577926642	chr4:165827455-165827456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10014297	chr4:165827478-165827479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112444637	chr4:165827479-165827480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572488485	chr4:165827484-165827485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368068286	chr4:165827495-165827496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539807182	chr4:165827496-165827497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143212639	chr4:165827514-165827515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528931638	chr4:165827528-165827529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555995371	chr4:165827547-165827548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146168257	chr4:165827555-165827556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6854816	chr4:165827632-165827633	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139102509	chr4:165827638-165827639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6854988	chr4:165827698-165827699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6854993	chr4:165827749-165827750	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549081591	chr4:165827866-165827867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528347286	chr4:165827870-165827871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567752266	chr4:165827891-165827892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183999734	chr4:165827892-165827893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188292594	chr4:165827935-165827936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61063144	chr4:165827936-165827937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138427518	chr4:165827945-165827946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148452965	chr4:165827956-165827957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180757713	chr4:165827960-165827961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113593809	chr4:165827991-165827992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538980597	chr4:165828001-165828002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165820200-165827600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:165825600-165827800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:165826200-165827400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:165826400-165827600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:165826600-165827600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:165826800-165827000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:165826800-165827600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:165826800-165828000	Weak transcription	Placenta	Placenta
9	chr4:165827400-165827800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:165827600-165827800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:165827600-165827800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:165827600-165827800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:165827600-165827800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:165827800-165828000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:165827800-165834800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:165828000-165828400	Enhancers	Placenta	Placenta
17	chr4:165834800-165835600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:165835000-165835400	Enhancers	HUES48 Cell Line	embryonic stem cell

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