Variant report

Variant	esv1004880
Chromosome Location	chr4:173779390-173790743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:173772490..173774977-chr4:173778723..173780805,2	MCF-7	breast:
2	chr4:173786122..173788666-chr4:173791027..173793744,2	K562	blood:
3	chr4:173781624..173784619-chr4:173786972..173788996,2	K562	blood:
4	chr4:173771209..173772763-chr4:173784527..173786166,2	K562	blood:
5	chr4:173777187..173778088-chr4:173786612..173787411,2	MCF-7	breast:
6	chr4:173751234..173752114-chr4:173786685..173787554,3	MCF-7	breast:
7	chr4:173787262..173790044-chr4:173794520..173796071,2	MCF-7	breast:
8	chr4:173781624..173784619-chr4:173786972..173788996,2	K562	blood:
9	chr4:173772777..173774432-chr4:173778610..173781377,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGB2-12	chr4:173787663-173787917	ucscGeneNc_uc003isw_2
2	lnc-HMGB2-12	chr4:173789165-173789197	ucscGeneNc_uc003isw_2

No data

Extended variants
information (count: 288 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1459156	chr4:173779703-173779704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1459155	chr4:173779718-173779719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560073104	chr4:173779733-173779734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1459154	chr4:173779735-173779736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549293254	chr4:173779746-173779747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200032976	chr4:173779747-173779748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146828024	chr4:173779768-173779769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11735460	chr4:173779786-173779787	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183209256	chr4:173779828-173779829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140641467	chr4:173779858-173779859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553868204	chr4:173779881-173779882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145797116	chr4:173779883-173779884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11731710	chr4:173779888-173779889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546574544	chr4:173779916-173779917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556342435	chr4:173779917-173779918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566486266	chr4:173779935-173779936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549409415	chr4:173779965-173779966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576290448	chr4:173779969-173779970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115809529	chr4:173779970-173779971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376974311	chr4:173779975-173779976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532306079	chr4:173779977-173779978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187165442	chr4:173780019-173780020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572436126	chr4:173780031-173780032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541154645	chr4:173780057-173780058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138311521	chr4:173780104-173780105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574987221	chr4:173780184-173780185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542802664	chr4:173780192-173780193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75032150	chr4:173780197-173780198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71594016	chr4:173780198-173780199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369906048	chr4:173780209-173780210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201895545	chr4:173780211-173780212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9968432	chr4:173780258-173780259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79419403	chr4:173780279-173780280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531607526	chr4:173780334-173780335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551680319	chr4:173780359-173780360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34547986	chr4:173780405-173780406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73000164	chr4:173780425-173780426	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs567699561	chr4:173780428-173780429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149223058	chr4:173780434-173780435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567307653	chr4:173780487-173780488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535954569	chr4:173780506-173780507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549931269	chr4:173780512-173780513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192038664	chr4:173780562-173780563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538926977	chr4:173780563-173780564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377406596	chr4:173780591-173780592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183358673	chr4:173780598-173780599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544505238	chr4:173784423-173784424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575909591	chr4:173784425-173784426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544435210	chr4:173784458-173784459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189151034	chr4:173784459-173784460	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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173779600-173779800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:173779600-173780400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:173780400-173780600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:173784400-173787200	Enhancers	Liver	Liver
5	chr4:173786200-173786600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:173786400-173787000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:173787200-173790600	Weak transcription	Liver	Liver
8	chr4:173788800-173789200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:173788800-173790200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:173789000-173790800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:173789000-173790800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:173789200-173789600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:173789200-173790200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:173789600-173790200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr4:173789600-173790200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:173789800-173790200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:173789800-173790400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:173790200-173793600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:173790200-173797600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:173790600-173791000	Enhancers	Liver	Liver

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