Variant report

Variant	esv3421464
Chromosome Location	chr4:110673703-110675801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110665767..110668257-chr4:110672848..110675356,2	K562	blood:
2	chr4:110650142..110652890-chr4:110673060..110675833,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123739	chromatin interactions
ENSG00000205403	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555398819	chr4:110673743-110673744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs80236313	chr4:110673754-110673755	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs78981775	chr4:110673803-110673804	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182349302	chr4:110673850-110673851	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573983113	chr4:110673883-110673884	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34799143	chr4:110673886-110673887	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs370066674	chr4:110673920-110673921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562906990	chr4:110673934-110673935	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11936921	chr4:110673953-110673954	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542635854	chr4:110673991-110673992	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs138887685	chr4:110674007-110674008	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528027198	chr4:110674019-110674020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112727801	chr4:110674020-110674021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs71591773	chr4:110674038-110674039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564672919	chr4:110674041-110674042	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533425597	chr4:110674054-110674055	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368406586	chr4:110674076-110674077	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192301139	chr4:110674083-110674084	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185041533	chr4:110674092-110674093	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs11936977	chr4:110674110-110674111	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372007629	chr4:110674162-110674163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113236696	chr4:110674165-110674166	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs547836310	chr4:110674205-110674206	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs70954180	chr4:110674210-110674211	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375278346	chr4:110674211-110674212	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368829612	chr4:110674212-110674213	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371449936	chr4:110674213-110674214	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs375415879	chr4:110674214-110674215	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372171480	chr4:110674220-110674221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs193155995	chr4:110674255-110674256	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184232424	chr4:110674284-110674285	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs11941783	chr4:110674287-110674288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs369939254	chr4:110674309-110674310	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200694103	chr4:110674316-110674317	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527427506	chr4:110674330-110674331	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373105752	chr4:110674339-110674340	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs184632323	chr4:110674373-110674374	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs377287681	chr4:110674456-110674457	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs189652327	chr4:110674469-110674470	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375526085	chr4:110674509-110674510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs369570457	chr4:110674570-110674571	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373765042	chr4:110674609-110674610	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs556428476	chr4:110674610-110674611	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs535844386	chr4:110674611-110674612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs572554523	chr4:110674628-110674629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs11946218	chr4:110674645-110674646	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs186602392	chr4:110674670-110674671	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs190999020	chr4:110674688-110674689	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs181672192	chr4:110674697-110674698	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs558040583	chr4:110674699-110674700	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110652000-110682800	Weak transcription	Left Ventricle	heart
2	chr4:110652000-110686000	Weak transcription	Ovary	ovary
3	chr4:110658000-110684000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:110659200-110689000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:110665000-110690400	Weak transcription	Fetal Intestine Small	intestine
6	chr4:110670600-110692000	Weak transcription	Pancreas	Pancrea
7	chr4:110670800-110676600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:110672400-110676600	Weak transcription	Liver	Liver
9	chr4:110672400-110681000	Weak transcription	HepG2	liver
10	chr4:110672600-110676600	Weak transcription	K562	blood

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