Variant report

Variant	esv3387336
Chromosome Location	chr5:115986601-115986914
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	chr5:115981549..115984671-chr5:115985029..115987618,3	K562	blood:
2	chr5:115985452..115987393-chr5:115988593..115990486,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545146224	chr5:115986603-115986604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191376580	chr5:115986613-115986614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572275307	chr5:115986658-115986659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183514438	chr5:115986725-115986726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556765098	chr5:115986726-115986727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115981230	chr5:115986733-115986734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187049992	chr5:115986734-115986735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192542091	chr5:115986756-115986757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532113003	chr5:115986767-115986768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76744450	chr5:115986775-115986776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151051915	chr5:115986787-115986788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545640494	chr5:115986792-115986793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566159682	chr5:115986803-115986804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140938361	chr5:115986809-115986810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548629100	chr5:115986821-115986822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568112181	chr5:115986844-115986845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61518662	chr5:115986896-115986897	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556945842	chr5:115986912-115986913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115965000-115987200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:115976400-115987000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:115981800-115987000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:115981800-115987200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:115982400-115987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:115983800-115987200	Weak transcription	HepG2	liver
7	chr5:115984000-115986800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:115984000-115986800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:115984000-115987000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:115984000-115987200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:115984800-115986800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:115985600-115987600	Enhancers	Brain Anterior Caudate	brain
13	chr5:115985600-115988000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:115985600-115991600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:115985800-115989800	Enhancers	Fetal Brain Male	brain
16	chr5:115986000-115988000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:115986200-115987600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:115986200-115987600	Enhancers	Brain Hippocampus Middle	brain
19	chr5:115986200-115987800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:115986200-115987800	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:115986200-115987800	Enhancers	Brain Substantia Nigra	brain
22	chr5:115986400-115987600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:115986400-115987600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:115986400-115987600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:115986400-115988000	Enhancers	GM12878-XiMat	blood
26	chr5:115986600-115987400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:115986800-115987600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:115986800-115987600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:115986800-115988000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:115986800-115988000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:115986800-115988000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:115986800-115988000	Enhancers	Brain Angular Gyrus	brain

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