Variant report

Variant	esv2621797
Chromosome Location	chr5:107502557-107503983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107498967..107500522-chr5:107502162..107503824,2	K562	blood:
2	chr5:107498401..107500522-chr5:107500663..107503662,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183367234	chr5:107502569-107502570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369299277	chr5:107502578-107502579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187621152	chr5:107502588-107502589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569577549	chr5:107502627-107502628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538579911	chr5:107502629-107502630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554945399	chr5:107502632-107502633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75168142	chr5:107502749-107502750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533908585	chr5:107502763-107502764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553871896	chr5:107502776-107502777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191078428	chr5:107502810-107502811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570668643	chr5:107502825-107502826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs286773	chr5:107502842-107502843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34423	chr5:107502872-107502873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562384447	chr5:107502929-107502930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182345917	chr5:107502938-107502939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377150056	chr5:107502941-107502942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542135518	chr5:107502976-107502977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561817844	chr5:107503071-107503072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543811934	chr5:107503101-107503102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374759037	chr5:107503148-107503149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397809917	chr5:107503150-107503151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527294401	chr5:107503158-107503159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547386242	chr5:107503214-107503215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116545766	chr5:107503239-107503240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117927687	chr5:107503261-107503262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563790706	chr5:107503287-107503288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549902353	chr5:107503316-107503317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569465402	chr5:107503363-107503364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs207466313	chr5:107503397-107503398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374322933	chr5:107503410-107503411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144443820	chr5:107503485-107503486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557938070	chr5:107503576-107503577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147504038	chr5:107503587-107503588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569895575	chr5:107503588-107503589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568633538	chr5:107503626-107503627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77165082	chr5:107503627-107503628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77201923	chr5:107503628-107503629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570502995	chr5:107503634-107503635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539591452	chr5:107503648-107503649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556217628	chr5:107503683-107503684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114323833	chr5:107503685-107503686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541624343	chr5:107503694-107503695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555654662	chr5:107503703-107503704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76947126	chr5:107503759-107503760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148859018	chr5:107503878-107503879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372139333	chr5:107503880-107503881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368856695	chr5:107503882-107503883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541034876	chr5:107503891-107503892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564108957	chr5:107503892-107503893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371134180	chr5:107503961-107503962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107474600-107511000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:107475200-107527400	Weak transcription	Liver	Liver
4	chr5:107475800-107510400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:107476000-107535600	Weak transcription	Left Ventricle	heart
6	chr5:107480800-107521000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:107481600-107504400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:107482000-107510800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:107492200-107519800	Weak transcription	Ovary	ovary
10	chr5:107494000-107504600	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:107494800-107503400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:107495400-107548800	Weak transcription	Pancreas	Pancrea
13	chr5:107496800-107528800	Weak transcription	Aorta	Aorta
14	chr5:107497800-107504600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:107501800-107502600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:107501800-107502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:107502800-107503400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:107502800-107503400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:107502800-107505600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:107502800-107505600	Enhancers	Fetal Heart	heart
21	chr5:107503000-107503200	Enhancers	HMEC	breast
22	chr5:107503000-107503400	Enhancers	NHEK	skin
23	chr5:107503000-107504600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:107503400-107504400	Weak transcription	HMEC	breast
25	chr5:107503400-107504600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:107503400-107505600	Enhancers	Cortex derived primary cultured neurospheres	brain

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