Variant report

Variant	esv1793931
Chromosome Location	chr4:84704368-84739751
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:84731853..84734647-chr4:84737048..84738986,2	K562	blood:
2	chr4:84723771..84726183-chr4:84739604..84741393,2	MCF-7	breast:
3	chr4:84723771..84726183-chr4:84739604..84741393,2	MCF-7	breast:
4	chr4:84707179..84709047-chr4:84718826..84721742,2	K562	blood:
5	chr4:84707179..84709047-chr4:84718826..84721742,2	K562	blood:
6	chr4:84712497..84715287-chr4:84717300..84719811,2	K562	blood:
7	chr4:84731853..84734647-chr4:84737048..84738986,2	K562	blood:
8	chr4:84706026..84707747-chr4:84709303..84710845,2	K562	blood:
9	chr4:84712497..84715287-chr4:84717300..84719811,2	K562	blood:
10	chr4:84706026..84707747-chr4:84709303..84710845,2	K562	blood:
11	chr4:84698641..84701119-chr4:84702942..84705679,2	MCF-7	breast:
12	chr4:84712497..84716560-chr4:84717300..84721042,4	K562	blood:
13	chr4:84712497..84716560-chr4:84717300..84721042,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NKX6-1-2	chr4:84717589-84717770	NONHSAT097229
2	lnc-NKX6-1-2	chr4:84732644-84732798	NONHSAT097229

No data

Extended variants
information (count: 163 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113589307	chr4:84707837-84707838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115288272	chr4:84707882-84707883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192054424	chr4:84707962-84707963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544062884	chr4:84708039-84708040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112628310	chr4:84708061-84708062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532901600	chr4:84708077-84708078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541756216	chr4:84708083-84708084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559751208	chr4:84708120-84708121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527304728	chr4:84708147-84708148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146122978	chr4:84708159-84708160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146368814	chr4:84712237-84712238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571599840	chr4:84712264-84712265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370714825	chr4:84712266-84712267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71613179	chr4:84712283-84712284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189066279	chr4:84712303-84712304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139401935	chr4:84712309-84712310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553418670	chr4:84712377-84712378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34270776	chr4:84712397-84712398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573185916	chr4:84712398-84712399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374779219	chr4:84712403-84712404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555331372	chr4:84712404-84712405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11383171	chr4:84712406-84712407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375032020	chr4:84712416-84712417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4693643	chr4:84712421-84712422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4693644	chr4:84712469-84712470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150068699	chr4:84712522-84712523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76195429	chr4:84712529-84712530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144891523	chr4:84712606-84712607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4693645	chr4:84712614-84712615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11099616	chr4:84712638-84712639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs148622238	chr4:84712686-84712687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560728890	chr4:84712749-84712750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144205706	chr4:84712752-84712753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4693097	chr4:84712776-84712777	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567838894	chr4:84712790-84712791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79093677	chr4:84712843-84712844	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs76215477	chr4:84712845-84712846	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs147790442	chr4:84712865-84712866	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs550576621	chr4:84712881-84712882	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191466650	chr4:84712907-84712908	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs539534816	chr4:84712942-84712943	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs116768614	chr4:84712952-84712953	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566667704	chr4:84712957-84712958	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533701054	chr4:84712996-84712997	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183079551	chr4:84713014-84713015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541865207	chr4:84713025-84713026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566809489	chr4:84713026-84713027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573563413	chr4:84713030-84713031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3084626	chr4:84713056-84713057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556862415	chr4:84713057-84713058	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
lymphocytic leukemia	21291569	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
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:84704000-84704400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:84707800-84708200	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr4:84712200-84712800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:84712600-84713000	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:84712600-84713000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:84712800-84713000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:84712800-84713200	Enhancers	Fetal Lung	lung
8	chr4:84716000-84716200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:84719800-84720400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:84719800-84721000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:84730600-84732400	Enhancers	Muscle Satellite Cultured Cells	--

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