Variant report

Variant	nsv599563
Chromosome Location	chr5:118191798-118241854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118235181..118238389-chr5:118238793..118240582,3	K562	blood:
2	chr5:118240942..118242563-chr5:118250072..118251996,2	MCF-7	breast:
3	chr5:118111304..118112111-chr5:118225562..118226077,2	MCF-7	breast:
4	chr5:118192775..118194666-chr5:118196580..118199051,2	K562	blood:
5	chr5:118236988..118239581-chr5:118243045..118245142,2	K562	blood:
6	chr5:118186238..118188903-chr5:118190266..118193143,3	MCF-7	breast:
7	chr5:118235222..118238389-chr5:118238793..118241310,3	K562	blood:
8	chr5:118235222..118238389-chr5:118238793..118241310,3	K562	blood:
9	chr5:118192775..118194666-chr5:118196580..118199051,2	K562	blood:
10	chr5:118140828..118142755-chr5:118221049..118222690,2	K562	blood:
11	chr5:118235181..118238389-chr5:118238793..118240582,3	K562	blood:

No data

Extended variants
information (count: 2021 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2021 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7722194	chr5:118191798-118191799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150106869	chr5:118191806-118191807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371599581	chr5:118191845-118191846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs822748	chr5:118191899-118191900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs61466105	chr5:118191968-118191969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186341669	chr5:118191973-118191974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570476472	chr5:118191974-118191975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11948568	chr5:118192005-118192006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114589505	chr5:118192069-118192070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191348221	chr5:118192076-118192077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538059212	chr5:118192096-118192097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370482204	chr5:118192259-118192260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142914327	chr5:118192268-118192269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145110993	chr5:118192279-118192280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138988122	chr5:118192290-118192291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76939303	chr5:118192310-118192311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149428859	chr5:118192318-118192319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557824304	chr5:118192348-118192349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553501616	chr5:118192383-118192384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28510458	chr5:118192384-118192385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372611031	chr5:118192458-118192459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs68175368	chr5:118192460-118192461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187697149	chr5:118192470-118192471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144727837	chr5:118192486-118192487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562434009	chr5:118192541-118192542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575822193	chr5:118192556-118192557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7726905	chr5:118192564-118192565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148081782	chr5:118192571-118192572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10463706	chr5:118192603-118192604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192236372	chr5:118192611-118192612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7709381	chr5:118192612-118192613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559984469	chr5:118192626-118192627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542322315	chr5:118192630-118192631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548670598	chr5:118192631-118192632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202119693	chr5:118192634-118192635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569146229	chr5:118192639-118192640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554208557	chr5:118192647-118192648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574196515	chr5:118192661-118192662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544455527	chr5:118192762-118192763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115069141	chr5:118192770-118192771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12652256	chr5:118192777-118192778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183270822	chr5:118192801-118192802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571512814	chr5:118192809-118192810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17144744	chr5:118192860-118192861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553466264	chr5:118192894-118192895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35371985	chr5:118192910-118192911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545468429	chr5:118192916-118192917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140819258	chr5:118192953-118192954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187970438	chr5:118192984-118192985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555443474	chr5:118192995-118192996	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:194 , 50 per page) page: 1 2 3 4

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	chr5:118193200-118194200	Enhancers	NHEK	skin
8	chr5:118193400-118193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:118193400-118193800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:118193400-118193800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:118193400-118193800	Enhancers	Pancreas	Pancrea
12	chr5:118193400-118193800	Enhancers	HMEC	breast
13	chr5:118193400-118194000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:118193400-118194200	Enhancers	Fetal Heart	heart
15	chr5:118193600-118205600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:118193800-118197000	Weak transcription	HMEC	breast
17	chr5:118193800-118197600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:118193800-118209200	Weak transcription	Pancreas	Pancrea
19	chr5:118194000-118197600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:118194000-118210200	Weak transcription	Primary B cells from cord blood	blood
21	chr5:118194200-118197600	Weak transcription	NHEK	skin
22	chr5:118194200-118198000	Weak transcription	Fetal Heart	heart
23	chr5:118194800-118208200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:118196000-118198600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:118196000-118210800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:118196200-118201600	Weak transcription	Esophagus	oesophagus
27	chr5:118196800-118202600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:118196800-118210600	Weak transcription	Liver	Liver
29	chr5:118197000-118199800	Enhancers	HMEC	breast
30	chr5:118197600-118197800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:118197600-118199600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:118197600-118199600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:118197600-118199800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:118197600-118199800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:118197600-118199800	Enhancers	NHEK	skin
36	chr5:118197800-118199600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:118197800-118205600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:118198200-118199400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:118198200-118199800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:118198400-118198800	Enhancers	NHDF-Ad	bronchial
41	chr5:118198400-118199600	Enhancers	Osteobl	bone
42	chr5:118198600-118198800	Enhancers	NH-A	brain
43	chr5:118198600-118199600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:118198600-118199800	Enhancers	NHLF	lung
45	chr5:118198800-118199200	Weak transcription	NHDF-Ad	bronchial
46	chr5:118199200-118199400	Enhancers	NHDF-Ad	bronchial
47	chr5:118199400-118203000	Weak transcription	NHDF-Ad	bronchial
48	chr5:118199800-118200800	Weak transcription	NHLF	lung
49	chr5:118200800-118201000	Enhancers	NHLF	lung
50	chr5:118201600-118201800	Active TSS	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links