Variant report

Variant	nsv823210
Chromosome Location	chr5:126369977-126370548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr5:126370415-126370606	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126367052..126370005-chr5:126376453..126379240,2	MCF-7	breast:
2	chr5:126370445..126372377-chr5:126376805..126378615,2	K562	blood:
3	chr5:126365480..126368335-chr5:126368822..126372507,5	MCF-7	breast:
4	chr5:126370055..126372210-chr5:126405124..126407966,2	K562	blood:
5	chr5:126368719..126372377-chr5:126376805..126380284,3	K562	blood:
6	chr5:126369468..126371186-chr5:126378784..126381001,2	K562	blood:
7	chr5:126364056..126368822-chr5:126369920..126375542,6	MCF-7	breast:

No data

Variant related genes	Relation type
MARCH3	TF binding region
ENSG00000173926	chromatin interactions
ENSG00000164241	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556067025	chr5:126369996-126369997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187935617	chr5:126370008-126370009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371191967	chr5:126370009-126370010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559741638	chr5:126370024-126370025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192425675	chr5:126370063-126370064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532046965	chr5:126370144-126370145	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184687136	chr5:126370234-126370235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs189473589	chr5:126370254-126370255	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531446750	chr5:126370260-126370261	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs181382335	chr5:126370268-126370269	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569640079	chr5:126370331-126370332	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374223361	chr5:126370402-126370403	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568375856	chr5:126370460-126370461	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs367908390	chr5:126370493-126370494	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549895201	chr5:126370494-126370495	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs567904064	chr5:126370514-126370515	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs11241914	chr5:126370515-126370516	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs527661021	chr5:126370542-126370543	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126367600-126375800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:126367600-126376000	Weak transcription	Left Ventricle	heart
3	chr5:126367600-126376600	Weak transcription	Right Atrium	heart
4	chr5:126367600-126382000	Weak transcription	Primary B cells from cord blood	blood
5	chr5:126367600-126391800	Weak transcription	GM12878-XiMat	blood
6	chr5:126367800-126373200	Weak transcription	Fetal Heart	heart
7	chr5:126367800-126376600	Weak transcription	Pancreas	Pancrea
8	chr5:126368000-126376400	Weak transcription	K562	blood
9	chr5:126368000-126387200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:126370200-126379000	Weak transcription	Primary T cells from cord blood	blood

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