Variant report

Variant	esv3448463
Chromosome Location	chr5:112880753-112882751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112882423..112884896-chr5:112886237..112887987,3	K562	blood:
2	chr5:112879476..112882434-chr5:112884296..112887058,2	MCF-7	breast:
3	chr5:112881042..112882693-chr5:112886312..112889101,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552981623	chr5:112880796-112880797	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543358383	chr5:112880813-112880814	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567955660	chr5:112880837-112880838	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77142605	chr5:112880872-112880873	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76241296	chr5:112880998-112880999	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115727068	chr5:112881014-112881015	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79409364	chr5:112881055-112881056	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141322258	chr5:112881085-112881086	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs398065109	chr5:112881095-112881096	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377156521	chr5:112881096-112881097	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58837820	chr5:112881099-112881100	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10477496	chr5:112881124-112881125	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs13180262	chr5:112881145-112881146	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs67295576	chr5:112881223-112881224	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372089100	chr5:112881225-112881226	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575463631	chr5:112881261-112881262	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577297110	chr5:112881267-112881268	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138981731	chr5:112881270-112881271	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559756991	chr5:112881276-112881277	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148541763	chr5:112881283-112881284	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186820710	chr5:112881288-112881289	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564214015	chr5:112881294-112881295	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191618048	chr5:112881305-112881306	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563984390	chr5:112881323-112881324	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567800567	chr5:112881327-112881328	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184153954	chr5:112881370-112881371	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552763404	chr5:112881397-112881398	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190000300	chr5:112881412-112881413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138640211	chr5:112881425-112881426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6893758	chr5:112881476-112881477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528232495	chr5:112881500-112881501	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546389424	chr5:112881536-112881537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541046187	chr5:112881659-112881660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62373763	chr5:112881683-112881684	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs370022315	chr5:112881715-112881716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373905706	chr5:112881717-112881718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535106729	chr5:112881726-112881727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556505346	chr5:112881728-112881729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568848063	chr5:112881731-112881732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539327737	chr5:112881732-112881733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546478622	chr5:112881736-112881737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185394869	chr5:112881759-112881760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557981148	chr5:112881805-112881806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190250611	chr5:112881808-112881809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181904196	chr5:112881821-112881822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377463463	chr5:112881837-112881838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553213443	chr5:112881855-112881856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569920522	chr5:112881868-112881869	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111953783	chr5:112881894-112881895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370349183	chr5:112881930-112881931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
2	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
3	chr5:112851600-112893200	Weak transcription	Fetal Brain Male	brain
4	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:112852400-112882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:112852400-112882200	Weak transcription	Fetal Heart	heart
7	chr5:112853200-112882400	Weak transcription	Brain Angular Gyrus	brain
8	chr5:112858800-112882000	Weak transcription	Brain Substantia Nigra	brain
9	chr5:112858800-112882200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:112860400-112882200	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:112862800-112891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:112864200-112882200	Weak transcription	Stomach Mucosa	stomach
13	chr5:112867000-112882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:112867000-112888200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
16	chr5:112867200-112882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:112867200-112903400	Weak transcription	Pancreas	Pancrea
18	chr5:112867200-112904000	Weak transcription	Lung	lung
19	chr5:112867200-112904200	Weak transcription	Aorta	Aorta
20	chr5:112867200-112909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:112867200-112909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:112867200-112910000	Weak transcription	Esophagus	oesophagus
23	chr5:112867400-112882200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:112867400-112888000	Weak transcription	HSMMtube	muscle
25	chr5:112867400-112888800	Weak transcription	Ovary	ovary
26	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
27	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:112867600-112882600	Weak transcription	Fetal Brain Female	brain
29	chr5:112867600-112891200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:112868000-112893400	Strong transcription	Dnd41	blood
31	chr5:112868400-112893600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:112868600-112886400	Strong transcription	Liver	Liver
33	chr5:112868600-112911400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:112869200-112910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:112869400-112881000	Weak transcription	Fetal Intestine Small	intestine
36	chr5:112869800-112884200	Weak transcription	Fetal Kidney	kidney
37	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr5:112871200-112882200	Weak transcription	NH-A	brain
39	chr5:112871600-112881400	Strong transcription	Fetal Muscle Leg	muscle
40	chr5:112872000-112904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:112872000-112915000	Weak transcription	Hela-S3	cervix
42	chr5:112872200-112882000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:112873000-112883200	Strong transcription	Fetal Thymus	thymus
44	chr5:112873000-112894000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:112873000-112900600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr5:112873400-112908800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:112873800-112883000	Strong transcription	Adipose Nuclei	Adipose
48	chr5:112873800-112888400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:112874000-112909600	Weak transcription	Spleen	Spleen
50	chr5:112874200-112880800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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