Variant report

Variant	esv3402204
Chromosome Location	chr5:96496791-96497143
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	chr5:96496779..96498459-chr5:96502787..96504322,2	K562	blood:
2	chr5:96496426..96497975-chr5:96509660..96511880,2	K562	blood:

Variant related genes	Relation type
ENSG00000206698	chromatin interactions
ENSG00000058729	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143743417	chr5:96496830-96496831	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201557698	chr5:96496840-96496841	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs200627248	chr5:96496841-96496842	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs201080822	chr5:96496842-96496843	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs77440668	chr5:96496843-96496844	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188390430	chr5:96496917-96496918	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549706155	chr5:96496941-96496942	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567913698	chr5:96496955-96496956	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34671120	chr5:96496956-96496957	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs111757929	chr5:96497086-96497087	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368145599	chr5:96497090-96497091	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79621157	chr5:96497095-96497096	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs528045537	chr5:96497099-96497100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539789711	chr5:96497113-96497114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs67400269	chr5:96497122-96497123	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557868775	chr5:96497127-96497128	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	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
Pancreatic cancer	17952125	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	chr5:96478400-96507800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:96492200-96498000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:96492200-96510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:96493600-96498200	Strong transcription	Primary B cells from cord blood	blood
5	chr5:96493600-96501600	Weak transcription	NHLF	lung
6	chr5:96493800-96497800	Weak transcription	HUVEC	blood vessel
7	chr5:96494000-96502800	Weak transcription	Psoas Muscle	Psoas
8	chr5:96494200-96497400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:96494200-96497800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:96494200-96498000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:96494200-96498000	Weak transcription	Fetal Kidney	kidney
12	chr5:96494200-96499200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:96494200-96499600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:96494200-96501000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr5:96494200-96501400	Weak transcription	Brain Anterior Caudate	brain
16	chr5:96494200-96503000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:96494200-96506600	Weak transcription	Ovary	ovary
18	chr5:96494400-96496800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:96494400-96496800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:96494400-96496800	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:96494400-96497400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:96494400-96497800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:96494400-96498000	Weak transcription	Adipose Nuclei	Adipose
24	chr5:96494400-96499600	Weak transcription	Esophagus	oesophagus
25	chr5:96494400-96501400	Strong transcription	Liver	Liver
26	chr5:96494400-96501800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr5:96494400-96502800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr5:96494400-96503200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:96494400-96505200	Weak transcription	Fetal Brain Male	brain
30	chr5:96494400-96510600	Weak transcription	Gastric	stomach
31	chr5:96494400-96515200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:96494400-96518000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:96494600-96497000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:96494600-96497000	Strong transcription	Brain Hippocampus Middle	brain
35	chr5:96494600-96497000	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr5:96494600-96497800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr5:96494600-96498800	Weak transcription	Left Ventricle	heart
38	chr5:96494600-96499200	Strong transcription	Fetal Intestine Large	intestine
39	chr5:96494600-96500800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:96494600-96500800	Strong transcription	HSMM	muscle
41	chr5:96494600-96501000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:96494600-96502800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:96494600-96502800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:96494600-96505200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:96494600-96516600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:96494800-96497200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr5:96494800-96500400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:96494800-96502600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr5:96494800-96514400	Weak transcription	Fetal Heart	heart
50	chr5:96494800-96515200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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