Variant report

Variant	esv2148081
Chromosome Location	chr4:8394887-8395355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532601496	chr4:8394887-8394888	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386671364	chr4:8394903-8394904	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112441314	chr4:8394904-8394905	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28637781	chr4:8394905-8394906	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147568665	chr4:8394932-8394933	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142254732	chr4:8394936-8394937	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189717846	chr4:8394951-8394952	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73087705	chr4:8394978-8394979	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs542702467	chr4:8394981-8394982	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561469194	chr4:8395029-8395030	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368943614	chr4:8395031-8395032	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74221270	chr4:8395033-8395034	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28547301	chr4:8395057-8395058	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13135580	chr4:8395139-8395140	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368679190	chr4:8395188-8395189	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531989125	chr4:8395194-8395195	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370772609	chr4:8395197-8395198	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550098078	chr4:8395210-8395211	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565604195	chr4:8395211-8395212	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544098846	chr4:8395215-8395216	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138758419	chr4:8395217-8395218	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373973189	chr4:8395218-8395219	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71175483	chr4:8395237-8395238	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75440089	chr4:8395244-8395245	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532670852	chr4:8395245-8395246	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9291391	chr4:8395265-8395266	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs565701006	chr4:8395279-8395280	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9291392	chr4:8395284-8395285	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148146536	chr4:8395292-8395293	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111674272	chr4:8395295-8395296	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74800592	chr4:8395297-8395298	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113788487	chr4:8395317-8395318	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144258877	chr4:8395319-8395320	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367967142	chr4:8395321-8395322	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559059061	chr4:8395332-8395333	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541836443	chr4:8395336-8395337	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386671365	chr4:8395340-8395341	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373197386	chr4:8395343-8395344	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377232722	chr4:8395344-8395345	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8360400-8395600	Weak transcription	NHEK	skin
2	chr4:8362000-8395400	Weak transcription	Fetal Brain Male	brain
3	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:8373400-8401600	Strong transcription	Fetal Intestine Small	intestine
5	chr4:8375000-8401600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:8378600-8398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:8378600-8398800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:8378800-8397800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:8379000-8395400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:8381800-8398600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:8382400-8401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:8383800-8419000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:8384000-8395600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:8384000-8399600	Strong transcription	Spleen	Spleen
15	chr4:8384800-8401600	Strong transcription	Thymus	Thymus
16	chr4:8384800-8418600	Strong transcription	Primary T cells from cord blood	blood
17	chr4:8385200-8395200	Weak transcription	Fetal Kidney	kidney
18	chr4:8385200-8411600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:8385400-8395600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:8385600-8407000	Weak transcription	Stomach Mucosa	stomach
21	chr4:8386400-8398200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:8386400-8408400	Strong transcription	Fetal Intestine Large	intestine
23	chr4:8386600-8398600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr4:8386600-8399400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr4:8386600-8400600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:8386800-8396600	Strong transcription	Lung	lung
27	chr4:8387200-8395000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:8387200-8395600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:8387400-8399600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:8387400-8412000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:8388000-8395000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:8388400-8396200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr4:8388400-8399200	Strong transcription	Liver	Liver
34	chr4:8389000-8399600	Strong transcription	Pancreas	Pancrea
35	chr4:8389400-8399200	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr4:8389400-8399200	Genic enhancers	Fetal Muscle Leg	muscle
37	chr4:8389800-8411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:8390200-8395600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:8390200-8396000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:8391000-8395600	Weak transcription	Dnd41	blood
41	chr4:8391200-8395800	Weak transcription	HepG2	liver
42	chr4:8391200-8406400	Weak transcription	Fetal Thymus	thymus
43	chr4:8391400-8395000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:8391400-8397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:8391600-8397600	Weak transcription	Colonic Mucosa	Colon
46	chr4:8392000-8395000	Genic enhancers	HSMM	muscle
47	chr4:8392000-8396400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:8392000-8396600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr4:8392200-8395600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:8392200-8396000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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