Variant report

Variant	esv1346080
Chromosome Location	chr5:126138748-126139091
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	chr5:126010491..126012654-chr5:126137907..126139641,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549417948	chr5:126138767-126138768	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567726954	chr5:126138779-126138780	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535395481	chr5:126138793-126138794	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548623019	chr5:126138797-126138798	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567133148	chr5:126138802-126138803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534163955	chr5:126138827-126138828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9715916	chr5:126138838-126138839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559188110	chr5:126138842-126138843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182816490	chr5:126138843-126138844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143348215	chr5:126138846-126138847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556656805	chr5:126138858-126138859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199964954	chr5:126138875-126138876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398109401	chr5:126138889-126138890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574759018	chr5:126138933-126138934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542182628	chr5:126138939-126138940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148342687	chr5:126138959-126138960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187532117	chr5:126138972-126138973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191647118	chr5:126138973-126138974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4267910	chr5:126138994-126138995	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531362356	chr5:126139004-126139005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549481116	chr5:126139022-126139023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551172403	chr5:126139050-126139051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
3	chr5:126114600-126161600	Weak transcription	Ovary	ovary
4	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
7	chr5:126116400-126140000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:126116400-126140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:126116400-126140200	Weak transcription	Thymus	Thymus
10	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
12	chr5:126116600-126140000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
15	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
16	chr5:126122600-126141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:126124000-126140200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:126124200-126140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:126124400-126140400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:126125400-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:126125600-126140400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:126127800-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:126128800-126145800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:126129200-126140000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:126129200-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:126129200-126141600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:126129200-126141800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:126130400-126139800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr5:126130400-126142000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:126131200-126140400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:126131600-126141600	Weak transcription	Fetal Intestine Small	intestine
33	chr5:126132000-126141200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:126132200-126141600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:126132200-126161200	Weak transcription	Gastric	stomach
36	chr5:126132400-126140400	Weak transcription	HepG2	liver
37	chr5:126132400-126141800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:126133800-126141800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:126135200-126147200	Weak transcription	Fetal Brain Male	brain
40	chr5:126135400-126138800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr5:126135400-126140800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:126135800-126139800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:126136000-126140000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:126136000-126145600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:126136000-126175200	Strong transcription	Dnd41	blood
46	chr5:126136200-126139800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:126136200-126139800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:126136200-126140000	Weak transcription	Fetal Thymus	thymus
49	chr5:126136200-126142000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:126136200-126142000	Weak transcription	Hela-S3	cervix

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