Variant report

Variant	esv2752839
Chromosome Location	chr5:116461101-116504101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1466 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559114272	chr5:116462835-116462836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs572591392	chr5:116462836-116462837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs374222525	chr5:116462865-116462866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561072394	chr5:116462878-116462879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs368149613	chr5:116462880-116462881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs574474345	chr5:116462983-116462984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs543424153	chr5:116462997-116462998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs6880933	chr5:116463005-116463006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531645629	chr5:116463031-116463032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551429150	chr5:116463032-116463033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183362531	chr5:116463039-116463040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189165814	chr5:116463050-116463051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547500196	chr5:116463064-116463065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192506593	chr5:116463073-116463074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558603356	chr5:116463106-116463107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141295489	chr5:116463130-116463131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549752648	chr5:116463135-116463136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570212096	chr5:116463181-116463182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35792749	chr5:116463186-116463187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539308391	chr5:116463252-116463253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577085933	chr5:116463280-116463281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371797030	chr5:116463290-116463291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572281980	chr5:116463293-116463294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183934582	chr5:116463356-116463357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554606960	chr5:116463370-116463371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574598967	chr5:116463371-116463372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186820654	chr5:116463378-116463379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191232142	chr5:116463379-116463380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561389136	chr5:116463401-116463402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114176095	chr5:116463451-116463452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540632099	chr5:116463454-116463455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545268471	chr5:116463481-116463482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146979061	chr5:116463487-116463488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527448584	chr5:116463493-116463494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184961600	chr5:116463495-116463496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559305403	chr5:116463524-116463525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549768982	chr5:116463549-116463550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549991402	chr5:116463618-116463619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200645862	chr5:116463619-116463620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574192782	chr5:116463639-116463640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549649492	chr5:116463703-116463704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142057295	chr5:116463743-116463744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151100721	chr5:116463744-116463745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79935765	chr5:116463761-116463762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56056305	chr5:116463763-116463764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569629098	chr5:116463793-116463794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532036434	chr5:116463794-116463795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541566420	chr5:116463815-116463816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566045329	chr5:116463818-116463819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561131089	chr5:116463822-116463823	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:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116462800-116463000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr5:116463000-116467600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:116464200-116465800	Weak transcription	Esophagus	oesophagus
4	chr5:116464400-116465200	Enhancers	Gastric	stomach
5	chr5:116464800-116465800	Enhancers	Stomach Mucosa	stomach
6	chr5:116465200-116466400	Weak transcription	Gastric	stomach
7	chr5:116465400-116467800	Enhancers	GM12878-XiMat	blood
8	chr5:116465800-116466600	Weak transcription	Stomach Mucosa	stomach
9	chr5:116466000-116466200	Enhancers	Esophagus	oesophagus
10	chr5:116466200-116468600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:116466600-116467200	Enhancers	Brain Anterior Caudate	brain
12	chr5:116466600-116468000	Enhancers	Brain Hippocampus Middle	brain
13	chr5:116466600-116468000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:116466600-116468000	Enhancers	HMEC	breast
15	chr5:116466600-116468000	Enhancers	NHEK	skin
16	chr5:116466600-116468200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:116466600-116468200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:116466800-116467000	Enhancers	Gastric	stomach
19	chr5:116466800-116467000	Enhancers	Stomach Mucosa	stomach
20	chr5:116466800-116467200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:116466800-116467200	Enhancers	Brain Angular Gyrus	brain
22	chr5:116466800-116468000	Enhancers	Brain Substantia Nigra	brain
23	chr5:116466800-116468200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:116467200-116467600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:116467200-116467800	Weak transcription	Brain Anterior Caudate	brain
26	chr5:116467200-116468000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:116467400-116468000	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:116467600-116468000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:116467600-116468000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:116467800-116468000	Enhancers	Brain Anterior Caudate	brain
31	chr5:116468000-116468200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:116468200-116469000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:116469000-116469200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:116471400-116471800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr5:116471400-116472000	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:116471600-116472000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:116476800-116477000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:116476800-116477600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr5:116477000-116488800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:116478400-116479600	Enhancers	Fetal Muscle Leg	muscle
41	chr5:116478800-116479200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:116478800-116479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:116478800-116479600	Enhancers	Placenta	Placenta
44	chr5:116479000-116479800	Enhancers	Fetal Lung	lung
45	chr5:116479200-116479600	Enhancers	Brain Substantia Nigra	brain
46	chr5:116479800-116480800	Weak transcription	Fetal Lung	lung
47	chr5:116480800-116481200	Enhancers	Fetal Lung	lung
48	chr5:116484800-116485600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr5:116485000-116485400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:116485000-116485600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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