Variant report

Variant	esv2557297
Chromosome Location	chr5:118202080-118203427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375191344	chr5:118202084-118202085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190658900	chr5:118202118-118202119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569769982	chr5:118202141-118202142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192817790	chr5:118202210-118202211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78174773	chr5:118202265-118202266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565713930	chr5:118202286-118202287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534298989	chr5:118202307-118202308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1355377	chr5:118202316-118202317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574364033	chr5:118202336-118202337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143018695	chr5:118202343-118202344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563185403	chr5:118202392-118202393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555209709	chr5:118202410-118202411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556700572	chr5:118202473-118202474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576954394	chr5:118202479-118202480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185442817	chr5:118202507-118202508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188655288	chr5:118202543-118202544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4013139	chr5:118202551-118202552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2376855	chr5:118202560-118202561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2376856	chr5:118202562-118202563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572439339	chr5:118202563-118202564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2376857	chr5:118202566-118202567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376106049	chr5:118202612-118202613	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs541401840	chr5:118202637-118202638	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs545662599	chr5:118202654-118202655	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561588140	chr5:118202661-118202662	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs530370413	chr5:118202673-118202674	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs550405822	chr5:118202765-118202766	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181362690	chr5:118202783-118202784	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532591229	chr5:118202806-118202807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552274688	chr5:118202869-118202870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576380154	chr5:118202885-118202886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564983274	chr5:118202894-118202895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530088100	chr5:118202919-118202920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183720959	chr5:118202927-118202928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547740240	chr5:118202950-118202951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147055081	chr5:118202974-118202975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565071192	chr5:118203027-118203028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146813420	chr5:118203057-118203058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188151398	chr5:118203059-118203060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180987156	chr5:118203067-118203068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576998014	chr5:118203072-118203073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539243193	chr5:118203104-118203105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149208393	chr5:118203105-118203106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62374075	chr5:118203116-118203117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187016825	chr5:118203167-118203168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192470036	chr5:118203171-118203172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561226040	chr5:118203180-118203181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574873671	chr5:118203195-118203196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544172000	chr5:118203220-118203221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368954499	chr5:118203249-118203250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	21509527	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118169600-118208600	Weak transcription	Aorta	Aorta
2	chr5:118189400-118209400	Weak transcription	Primary T cells from cord blood	blood
3	chr5:118189600-118205400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:118189600-118210600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:118190600-118209000	Weak transcription	Left Ventricle	heart
6	chr5:118190800-118210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:118193600-118205600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:118193800-118209200	Weak transcription	Pancreas	Pancrea
9	chr5:118194000-118210200	Weak transcription	Primary B cells from cord blood	blood
10	chr5:118194800-118208200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:118196000-118210800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:118196800-118202600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:118196800-118210600	Weak transcription	Liver	Liver
14	chr5:118197800-118205600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:118199400-118203000	Weak transcription	NHDF-Ad	bronchial
16	chr5:118202600-118202800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:118203000-118203200	Enhancers	NHDF-Ad	bronchial

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