Variant report

Variant	esv3469605
Chromosome Location	chr5:98714226-98715400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 83 )

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	rs35675157	chr5:98714282-98714283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183896263	chr5:98714340-98714341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553452801	chr5:98714400-98714401	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs140919491	chr5:98714470-98714471	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143754159	chr5:98714503-98714504	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564239051	chr5:98714506-98714507	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576259250	chr5:98714526-98714527	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549146982	chr5:98714537-98714538	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs79125431	chr5:98714569-98714570	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs554433755	chr5:98714638-98714639	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs377748664	chr5:98714656-98714657	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs572797005	chr5:98714882-98714883	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs77547065	chr5:98714927-98714928	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs529000428	chr5:98714941-98714942	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547067394	chr5:98714971-98714972	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs558956582	chr5:98714973-98714974	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538439673	chr5:98714976-98714977	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs145819188	chr5:98715008-98715009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551325645	chr5:98715016-98715017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185966492	chr5:98715087-98715088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376752528	chr5:98715209-98715210	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs549355555	chr5:98715238-98715239	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs76068278	chr5:98715250-98715251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs148992255	chr5:98715251-98715252	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553489621	chr5:98715260-98715261	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs114405809	chr5:98715277-98715278	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558136580	chr5:98715297-98715298	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs539057862	chr5:98715344-98715345	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs35331786	chr5:98715376-98715377	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571169508	chr5:98715381-98715382	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557280933	chr5:98715382-98715383	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98713200-98715600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:98713600-98714600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:98713800-98715000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr5:98713800-98715400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:98713800-98715600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:98713800-98716000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:98714000-98715000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:98714000-98715800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:98714200-98715000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:98714200-98715400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:98714400-98714600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:98714400-98715200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:98714400-98715400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:98714400-98715400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:98714600-98714800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:98714600-98715000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:98714600-98715000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr5:98714600-98715600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:98714600-98715600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:98715000-98715200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:98715000-98715600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:98715000-98716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:98715200-98715400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:98715200-98715400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:98715400-98715600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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