Variant report

Variant	esv3404718
Chromosome Location	chr5:147111059-147115357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116252945	chr5:147111090-147111091	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs148317575	chr5:147111130-147111131	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562369451	chr5:147111216-147111217	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs140512449	chr5:147111217-147111218	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541985016	chr5:147111227-147111228	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560384398	chr5:147111243-147111244	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150398235	chr5:147111272-147111273	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77323336	chr5:147111347-147111348	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552146482	chr5:147111356-147111357	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs570739954	chr5:147111411-147111412	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs189206804	chr5:147111426-147111427	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs531579324	chr5:147111458-147111459	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373484477	chr5:147111489-147111490	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568402802	chr5:147111509-147111510	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570964025	chr5:147111524-147111525	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs535552866	chr5:147111540-147111541	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553853384	chr5:147111603-147111604	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs138173477	chr5:147111616-147111617	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs539662868	chr5:147111627-147111628	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181804008	chr5:147111631-147111632	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576656068	chr5:147111655-147111656	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376402168	chr5:147111698-147111699	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570055099	chr5:147111789-147111790	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs547162704	chr5:147111796-147111797	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566948314	chr5:147111817-147111818	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs543790514	chr5:147111857-147111858	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556113850	chr5:147111885-147111886	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs73797165	chr5:147111947-147111948	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs527851999	chr5:147111949-147111950	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs535884610	chr5:147111961-147111962	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541899037	chr5:147111987-147111988	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs549132733	chr5:147111988-147111989	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs113070444	chr5:147112058-147112059	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs386405246	chr5:147112059-147112060	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs527448460	chr5:147112087-147112088	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537760886	chr5:147112116-147112117	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375384645	chr5:147112143-147112144	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs545999978	chr5:147112149-147112150	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs564161236	chr5:147112176-147112177	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562390411	chr5:147112211-147112212	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs531624648	chr5:147112342-147112343	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186406123	chr5:147112356-147112357	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs12653715	chr5:147112357-147112358	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529261433	chr5:147112404-147112405	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs547453997	chr5:147112478-147112479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs565860967	chr5:147112482-147112483	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539578845	chr5:147112496-147112497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs558312867	chr5:147112516-147112517	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577465566	chr5:147112541-147112542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs570191710	chr5:147112601-147112602	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147078600-147146000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:147101600-147114400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:147102000-147111600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:147102000-147112000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:147102200-147114400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:147102600-147111600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:147103600-147111600	Weak transcription	Fetal Brain Female	brain
8	chr5:147103600-147121800	Weak transcription	Fetal Brain Male	brain
9	chr5:147105600-147114200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:147105800-147114400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:147106600-147111200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:147107200-147112800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:147108600-147111200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:147109800-147113400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:147110400-147111200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:147110400-147111200	Enhancers	Brain Anterior Caudate	brain
17	chr5:147110400-147111400	Enhancers	Brain Angular Gyrus	brain
18	chr5:147110400-147113000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:147110400-147113000	Enhancers	Brain Substantia Nigra	brain
20	chr5:147110600-147111200	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:147110600-147111200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:147110600-147111200	Enhancers	Stomach Mucosa	stomach
23	chr5:147110600-147112000	Enhancers	Fetal Intestine Small	intestine
24	chr5:147110600-147112200	Enhancers	Duodenum Mucosa	Duodenum
25	chr5:147110800-147111200	Enhancers	Fetal Intestine Large	intestine
26	chr5:147110800-147111400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr5:147110800-147112200	Enhancers	Fetal Lung	lung
28	chr5:147111000-147111400	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr5:147111000-147111600	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr5:147111200-147111400	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr5:147111200-147111800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:147111200-147111800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr5:147111200-147112000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:147111200-147112000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:147111200-147112200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:147111200-147112200	Active TSS	Brain Cingulate Gyrus	brain
37	chr5:147111200-147112200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr5:147111200-147112600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:147111200-147114600	Weak transcription	Stomach Mucosa	stomach
40	chr5:147111400-147111600	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr5:147111400-147111600	Active TSS	Brain Germinal Matrix	brain
42	chr5:147111400-147112200	Active TSS	Brain Anterior Caudate	brain
43	chr5:147111400-147112400	Active TSS	Brain Angular Gyrus	brain
44	chr5:147111400-147112600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:147111600-147111800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr5:147111600-147111800	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr5:147111600-147111800	Active TSS	Brain Hippocampus Middle	brain
48	chr5:147111600-147112000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:147111600-147112000	Active TSS	Fetal Brain Female	brain
50	chr5:147111600-147112200	Enhancers	HUES64 Cell Line	embryonic stem cell

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