Variant report

Variant	esv2830335
Chromosome Location	chr4:94440026-94629367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:94606143..94607649-chr4:94607785..94609951,2	K562	blood:
2	chr4:94586387..94588031-chr4:94591400..94593375,2	K562	blood:
3	chr4:94506844..94508363-chr5:5980571..5982412,2	MCF-7	breast:
4	chr4:94606143..94607649-chr4:94607785..94609951,2	K562	blood:
5	chr4:94586387..94588031-chr4:94591400..94593375,2	K562	blood:
6	chr4:94580724..94582519-chr4:94706811..94708361,2	MCF-7	breast:

Extended variants
information (count: 3107 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3107 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4286488	chr4:94440026-94440027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190030354	chr4:94440082-94440083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529883703	chr4:94440121-94440122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377408274	chr4:94440128-94440129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546398048	chr4:94440137-94440138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192897004	chr4:94440165-94440166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142344165	chr4:94440172-94440173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534350271	chr4:94440242-94440243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184343316	chr4:94440244-94440245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552457060	chr4:94440265-94440266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188212890	chr4:94440307-94440308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533951872	chr4:94440330-94440331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144678701	chr4:94440334-94440335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567453694	chr4:94440367-94440368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147901119	chr4:94440374-94440375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556526808	chr4:94440389-94440390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78724699	chr4:94440398-94440399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538916554	chr4:94440422-94440423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181001929	chr4:94440478-94440479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528183781	chr4:94440523-94440524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183865059	chr4:94440524-94440525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141696484	chr4:94440573-94440574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4582123	chr4:94440597-94440598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543596302	chr4:94440657-94440658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528681414	chr4:94440667-94440668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13125997	chr4:94440691-94440692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190435366	chr4:94440717-94440718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182154967	chr4:94440744-94440745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556696666	chr4:94440772-94440773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527660855	chr4:94440785-94440786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529692484	chr4:94440855-94440856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6813717	chr4:94440898-94440899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs150344715	chr4:94440908-94440909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546281775	chr4:94440973-94440974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550258382	chr4:94441037-94441038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570123062	chr4:94441040-94441041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539238209	chr4:94441073-94441074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138054359	chr4:94441078-94441079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559280066	chr4:94441090-94441091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111425471	chr4:94441177-94441178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572805620	chr4:94441190-94441191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186919012	chr4:94441226-94441227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13102803	chr4:94441283-94441284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574386696	chr4:94441290-94441291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543106666	chr4:94441357-94441358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191769256	chr4:94441368-94441369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576925983	chr4:94441395-94441396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4535307	chr4:94441437-94441438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557186364	chr4:94441490-94441491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545625410	chr4:94441494-94441495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94432200-94443000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:94443000-94444000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:94450000-94452200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:94450600-94451400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:94451400-94455000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:94452800-94454000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:94453000-94453600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:94453200-94453600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:94453200-94453600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:94453200-94453800	Enhancers	Fetal Brain Male	brain
11	chr4:94453400-94453800	Enhancers	Brain Germinal Matrix	brain
12	chr4:94453800-94454800	Weak transcription	Brain Germinal Matrix	brain
13	chr4:94454800-94455000	Enhancers	Brain Germinal Matrix	brain
14	chr4:94455000-94455200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:94457000-94457600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:94457400-94458000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:94463000-94464000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:94464000-94464600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:94464600-94465000	Enhancers	Fetal Lung	lung
20	chr4:94464600-94465200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:94464600-94465200	Enhancers	Brain Substantia Nigra	brain
22	chr4:94465000-94466200	Weak transcription	Fetal Lung	lung
23	chr4:94466400-94466600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:94466400-94466600	Enhancers	Fetal Lung	lung
25	chr4:94466600-94488200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:94488200-94489000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:94498600-94499000	Enhancers	Brain Germinal Matrix	brain
28	chr4:94498800-94499400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:94498800-94499600	Enhancers	Fetal Brain Male	brain
30	chr4:94499000-94499400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:94499200-94499600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:94503200-94503400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr4:94503400-94504800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:94504000-94504400	ZNF genes & repeats	Aorta	Aorta
35	chr4:94521800-94522200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:94538400-94538600	Enhancers	Brain Angular Gyrus	brain
37	chr4:94538400-94539000	Active TSS	Brain Anterior Caudate	brain
38	chr4:94538400-94539000	Active TSS	Brain Cingulate Gyrus	brain
39	chr4:94538400-94539200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr4:94538400-94539200	Active TSS	Brain Substantia Nigra	brain
41	chr4:94538600-94539000	Active TSS	Brain Angular Gyrus	brain
42	chr4:94538600-94539000	Active TSS	Brain Hippocampus Middle	brain
43	chr4:94538600-94539400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:94538800-94539400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr4:94539000-94539200	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr4:94539000-94539200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr4:94539000-94539600	Enhancers	Brain Angular Gyrus	brain
48	chr4:94539200-94539800	Enhancers	Brain Cingulate Gyrus	brain
49	chr4:94539200-94539800	Enhancers	Brain Substantia Nigra	brain
50	chr4:94539400-94539600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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