Variant report

Variant	esv3424964
Chromosome Location	chr4:96179179-96181177
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	chr4:96170637..96175521-chr4:96175696..96180371,8	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182061629	chr4:96179232-96179233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559409473	chr4:96179306-96179307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185967428	chr4:96179408-96179409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76164224	chr4:96179424-96179425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371323840	chr4:96179466-96179467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374731697	chr4:96179507-96179508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549461284	chr4:96179544-96179545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539549936	chr4:96179637-96179638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548294263	chr4:96179686-96179687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561309843	chr4:96179695-96179696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530359747	chr4:96179705-96179706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35363325	chr4:96179724-96179725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6838035	chr4:96179750-96179751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569972525	chr4:96179758-96179759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552133066	chr4:96179814-96179815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552124579	chr4:96179832-96179833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372175952	chr4:96179838-96179839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565762259	chr4:96179842-96179843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149773962	chr4:96179895-96179896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555084825	chr4:96179953-96179954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190426502	chr4:96179976-96179977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12108433	chr4:96180057-96180058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373541192	chr4:96180067-96180068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556056886	chr4:96180075-96180076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528743195	chr4:96180079-96180080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577178923	chr4:96180158-96180159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546143460	chr4:96180159-96180160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375273985	chr4:96180291-96180292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552983214	chr4:96180322-96180323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369190371	chr4:96180380-96180381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572831160	chr4:96180405-96180406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541552527	chr4:96180463-96180464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561775377	chr4:96180467-96180468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115063227	chr4:96180484-96180485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543961508	chr4:96180508-96180509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563560632	chr4:96180539-96180540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17352477	chr4:96180560-96180561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73837516	chr4:96180582-96180583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565725573	chr4:96180584-96180585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145736072	chr4:96180595-96180596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571269581	chr4:96180622-96180623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548296995	chr4:96180659-96180660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140000201	chr4:96180749-96180750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537168073	chr4:96180765-96180766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112631739	chr4:96180818-96180819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77925336	chr4:96180864-96180865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371364861	chr4:96180892-96180893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533211686	chr4:96180988-96180989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs67374207	chr4:96181016-96181017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4254782	chr4:96181034-96181035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

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
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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96153200-96189600	Weak transcription	Fetal Kidney	kidney
2	chr4:96171400-96184600	Weak transcription	Fetal Lung	lung
3	chr4:96171600-96181600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:96171800-96187600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:96177000-96184000	Weak transcription	Ovary	ovary
6	chr4:96177600-96179200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:96177600-96184600	Weak transcription	Brain Angular Gyrus	brain
8	chr4:96177800-96181600	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:96177800-96184400	Weak transcription	Brain Substantia Nigra	brain
10	chr4:96177800-96184600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:96178800-96182000	Weak transcription	K562	blood
12	chr4:96179200-96179800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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