Variant report

Variant	esv3469692
Chromosome Location	chr5:107198400-107199363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186294716	chr5:107198408-107198409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201109869	chr5:107198459-107198460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4957725	chr5:107198461-107198462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76753283	chr5:107198490-107198491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35445231	chr5:107198491-107198492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571077121	chr5:107198500-107198501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77845409	chr5:107198509-107198510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549887201	chr5:107198554-107198555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76569407	chr5:107198603-107198604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370603934	chr5:107198670-107198671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555945026	chr5:107198680-107198681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565834275	chr5:107198684-107198685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534820874	chr5:107198686-107198687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554210064	chr5:107198702-107198703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557997637	chr5:107198779-107198780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146215460	chr5:107198874-107198875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78287792	chr5:107198875-107198876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73780442	chr5:107198917-107198918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573340141	chr5:107198946-107198947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370037842	chr5:107198962-107198963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563837418	chr5:107198968-107198969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542308128	chr5:107198980-107198981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559024200	chr5:107198992-107198993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530923037	chr5:107199020-107199021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527847650	chr5:107199055-107199056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577354517	chr5:107199146-107199147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373354623	chr5:107199189-107199190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541252959	chr5:107199251-107199252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564732991	chr5:107199308-107199309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533444669	chr5:107199321-107199322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550492865	chr5:107199352-107199353	Weak transcription 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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107189000-107204000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:107189000-107212200	Weak transcription	Fetal Brain Male	brain
3	chr5:107194000-107219000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:107195200-107214800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:107195400-107204800	Weak transcription	Brain Anterior Caudate	brain
6	chr5:107195400-107205000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:107195400-107207600	Weak transcription	Spleen	Spleen
8	chr5:107195400-107208600	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:107195400-107211600	Weak transcription	Aorta	Aorta
10	chr5:107195400-107214200	Weak transcription	Primary B cells from cord blood	blood
11	chr5:107195400-107215000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:107195400-107215000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:107195400-107217800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:107195400-107220000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:107195400-107223200	Weak transcription	Left Ventricle	heart
16	chr5:107195600-107204600	Weak transcription	Fetal Stomach	stomach
17	chr5:107195800-107214400	Weak transcription	Fetal Intestine Small	intestine
18	chr5:107195800-107218200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:107196000-107199200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:107196000-107204200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:107196000-107210800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:107196200-107199000	Weak transcription	Dnd41	blood
23	chr5:107196200-107200200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:107196400-107200800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:107196400-107202600	Weak transcription	Placenta	Placenta
26	chr5:107196800-107203400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:107196800-107205000	Weak transcription	HSMM	muscle
28	chr5:107196800-107223200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:107197000-107200800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:107197400-107198600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:107197600-107200200	Weak transcription	Pancreas	Pancrea
32	chr5:107197600-107204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:107197600-107215400	Weak transcription	Ovary	ovary
34	chr5:107197800-107199400	Weak transcription	Right Ventricle	heart
35	chr5:107197800-107200200	Weak transcription	Esophagus	oesophagus
36	chr5:107197800-107200400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:107197800-107204800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:107197800-107210400	Weak transcription	Primary T cells from cord blood	blood
39	chr5:107197800-107215400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:107197800-107215800	Weak transcription	Lung	lung
41	chr5:107197800-107219000	Weak transcription	Gastric	stomach
42	chr5:107197800-107228800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:107198000-107199800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:107198000-107223000	Weak transcription	Adipose Nuclei	Adipose
45	chr5:107198200-107209200	Weak transcription	Liver	Liver
46	chr5:107198600-107211400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:107198800-107199000	Enhancers	Rectal Smooth Muscle	rectum
48	chr5:107199000-107199600	Enhancers	Fetal Lung	lung
49	chr5:107199200-107200200	Weak transcription	Rectal Smooth Muscle	rectum

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