Variant report

Variant	esv1824291
Chromosome Location	chr4:93900859-93918428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:93908293..93911044-chr4:93911588..93914279,2	MCF-7	breast:
2	chr4:93908293..93911044-chr4:93911588..93914279,2	MCF-7	breast:
3	chr4:93886231..93887821-chr4:93901908..93903959,2	K562	blood:

Extended variants
information (count: 335 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:335 , 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	rs77928870	chr4:93900859-93900860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562551059	chr4:93900862-93900863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531485467	chr4:93900905-93900906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551546837	chr4:93900915-93900916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75606050	chr4:93900917-93900918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140516094	chr4:93900938-93900939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545726431	chr4:93900967-93900968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567223206	chr4:93900971-93900972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187555884	chr4:93900999-93901000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554964129	chr4:93909245-93909246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574702145	chr4:93909254-93909255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143084447	chr4:93909362-93909363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556491671	chr4:93909383-93909384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576342667	chr4:93909399-93909400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188437973	chr4:93909432-93909433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34457771	chr4:93909439-93909440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572129402	chr4:93909467-93909468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540737542	chr4:93909511-93909512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560951200	chr4:93909534-93909535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368033792	chr4:93909565-93909566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529614356	chr4:93909578-93909579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550108652	chr4:93909600-93909601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191520761	chr4:93909610-93909611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182539395	chr4:93909621-93909622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148127761	chr4:93909635-93909636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186638223	chr4:93909636-93909637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568262354	chr4:93909676-93909677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12498874	chr4:93909727-93909728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548346731	chr4:93909730-93909731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544634529	chr4:93909781-93909782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111706995	chr4:93909798-93909799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561396584	chr4:93909802-93909803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556530364	chr4:93909816-93909817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576381408	chr4:93909858-93909859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538909567	chr4:93909879-93909880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530400528	chr4:93909910-93909911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558733139	chr4:93909967-93909968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572105481	chr4:93910068-93910069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541125205	chr4:93910075-93910076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375380621	chr4:93910091-93910092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560820040	chr4:93910126-93910127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574137810	chr4:93910136-93910137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191436153	chr4:93910199-93910200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563668729	chr4:93910227-93910228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532679741	chr4:93910230-93910231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537305169	chr4:93910256-93910257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559898079	chr4:93910309-93910310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528671972	chr4:93910325-93910326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185494622	chr4:93910345-93910346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202102596	chr4:93910448-93910449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	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
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93900800-93901000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:93909200-93910200	Enhancers	Liver	Liver
3	chr4:93909200-93910200	Enhancers	Fetal Intestine Large	intestine
4	chr4:93909400-93909600	Enhancers	Fetal Intestine Small	intestine
5	chr4:93909600-93910000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:93909600-93913800	Weak transcription	Fetal Intestine Small	intestine
7	chr4:93910200-93912400	Weak transcription	Liver	Liver
8	chr4:93912400-93917400	Enhancers	Liver	Liver
9	chr4:93912800-93913000	Enhancers	Brain Germinal Matrix	brain
10	chr4:93913000-93913400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:93913000-93913600	Weak transcription	Brain Germinal Matrix	brain
12	chr4:93913600-93914400	Enhancers	Brain Germinal Matrix	brain
13	chr4:93913800-93914400	Enhancers	Fetal Intestine Small	intestine
14	chr4:93913800-93914600	Enhancers	Fetal Brain Female	brain
15	chr4:93915400-93916400	Enhancers	Pancreas	Pancrea
16	chr4:93916200-93916400	Enhancers	Fetal Intestine Small	intestine
17	chr4:93917400-93922800	Weak transcription	Liver	Liver

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