Variant report

Variant	nsv1067921
Chromosome Location	chr5:118835012-118835248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr5:118835150-118835173	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118825394..118827286-chr5:118834797..118837688,2	K562	blood:
2	chr5:118831350..118835449-chr5:118835713..118839843,3	MCF-7	breast:

Variant related genes	Relation type
HSD17B4	TF binding region
ENSG00000133835	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 73 )

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	rs370579120	chr5:118835033-118835034	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143750360	chr5:118835039-118835040	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372782834	chr5:118835043-118835044	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs202103850	chr5:118835051-118835052	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201568834	chr5:118835058-118835059	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138560200	chr5:118835097-118835098	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs57972893	chr5:118835098-118835099	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs201340722	chr5:118835102-118835103	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147324213	chr5:118835109-118835110	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200347945	chr5:118835170-118835171	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs137946207	chr5:118835177-118835178	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370055428	chr5:118835194-118835195	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141606543	chr5:118835195-118835196	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371801135	chr5:118835220-118835221	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576803491	chr5:118835231-118835232	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374161061	chr5:118835238-118835239	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:118794800-118861200	Weak transcription	HSMM	muscle
3	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:118804800-118837000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:118805200-118839400	Weak transcription	NHEK	skin
6	chr5:118806000-118846400	Weak transcription	Esophagus	oesophagus
7	chr5:118806000-118846400	Weak transcription	Spleen	Spleen
8	chr5:118806200-118844800	Weak transcription	Thymus	Thymus
9	chr5:118806200-118846400	Weak transcription	Pancreas	Pancrea
10	chr5:118806200-118855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:118806400-118845000	Weak transcription	Fetal Stomach	stomach
12	chr5:118806400-118846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:118806800-118845400	Weak transcription	Fetal Heart	heart
14	chr5:118808000-118839600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:118808000-118839800	Weak transcription	Psoas Muscle	Psoas
16	chr5:118809600-118838000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:118811200-118839600	Weak transcription	Brain Germinal Matrix	brain
18	chr5:118812000-118846400	Weak transcription	NHLF	lung
19	chr5:118814000-118838200	Weak transcription	Fetal Intestine Small	intestine
20	chr5:118814000-118845000	Weak transcription	Gastric	stomach
21	chr5:118814000-118845200	Weak transcription	Aorta	Aorta
22	chr5:118814800-118839400	Weak transcription	Right Ventricle	heart
23	chr5:118814800-118844800	Weak transcription	Lung	lung
24	chr5:118815400-118835400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:118815400-118839000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:118815800-118839000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:118815800-118845400	Weak transcription	HMEC	breast
28	chr5:118816000-118844000	Weak transcription	Hela-S3	cervix
29	chr5:118816000-118847000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:118816800-118837800	Strong transcription	Dnd41	blood
31	chr5:118816800-118839600	Strong transcription	Adipose Nuclei	Adipose
32	chr5:118817000-118837800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:118817000-118846400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr5:118817200-118839600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:118818400-118839600	Weak transcription	Fetal Kidney	kidney
36	chr5:118819000-118839200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:118819600-118844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:118820000-118839000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:118820000-118839600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:118820200-118838600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:118820200-118846400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr5:118820400-118838800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:118821000-118839600	Strong transcription	Liver	Liver
44	chr5:118821000-118843800	Weak transcription	NHDF-Ad	bronchial
45	chr5:118822000-118835600	Weak transcription	Brain Angular Gyrus	brain
46	chr5:118822000-118837200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:118823600-118837000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr5:118823800-118837400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr5:118824200-118838400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:118824400-118837000	Strong transcription	Placenta	Placenta

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