Variant report

Variant	esv3343241
Chromosome Location	chr5:106234102-106248540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 411 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538228871	chr5:106234111-106234112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548580269	chr5:106234114-106234115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530098504	chr5:106234118-106234119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568342196	chr5:106234139-106234140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2454890	chr5:106234174-106234175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547565159	chr5:106234191-106234192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570758953	chr5:106234198-106234199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539650981	chr5:106234249-106234250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139947503	chr5:106234255-106234256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556301385	chr5:106234272-106234273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150995726	chr5:106234277-106234278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578032274	chr5:106234293-106234294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367657732	chr5:106234325-106234326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533118569	chr5:106234339-106234340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79535263	chr5:106234341-106234342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571928183	chr5:106234371-106234372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541159979	chr5:106234379-106234380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369779646	chr5:106240006-106240007	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186444564	chr5:106240014-106240015	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570695410	chr5:106240054-106240055	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539782806	chr5:106240056-106240057	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191269662	chr5:106240072-106240073	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183453367	chr5:106240116-106240117	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535111528	chr5:106240124-106240125	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188849661	chr5:106240128-106240129	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572196226	chr5:106240132-106240133	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146689829	chr5:106240154-106240155	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190468227	chr5:106240164-106240165	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183405406	chr5:106240169-106240170	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139239122	chr5:106240180-106240181	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563439624	chr5:106240185-106240186	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187682434	chr5:106240224-106240225	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541879308	chr5:106240277-106240278	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143985511	chr5:106240287-106240288	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527813866	chr5:106240329-106240330	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547476477	chr5:106240345-106240346	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564384575	chr5:106240348-106240349	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533363717	chr5:106240378-106240379	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550306408	chr5:106240424-106240425	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191365982	chr5:106240428-106240429	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536122000	chr5:106240445-106240446	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548734169	chr5:106240446-106240447	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371253527	chr5:106240447-106240448	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534752659	chr5:106240463-106240464	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2086115	chr5:106240468-106240469	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577765801	chr5:106240489-106240490	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184306326	chr5:106240495-106240496	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188012392	chr5:106240507-106240508	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370143857	chr5:106240512-106240513	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550495212	chr5:106240516-106240517	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106233400-106234400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:106240000-106240800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:106240000-106241000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:106240200-106241000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr5:106240200-106241200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:106240200-106241400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:106240400-106240800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr5:106240600-106240800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:106240600-106241200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr5:106241000-106241800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:106241000-106242200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:106241000-106242400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:106241000-106242600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:106241200-106241800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:106241200-106242400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:106241800-106242800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:106242400-106252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:106244400-106247000	Enhancers	Fetal Brain Male	brain

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