Variant report

Variant	nsv432746
Chromosome Location	chr5:57502859-57547419
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57535441..57538302-chr5:57538781..57541164,2	MCF-7	breast:
2	chr5:57528101..57530824-chr5:57745599..57747448,2	MCF-7	breast:
3	chr5:57531620..57533585-chr5:57553744..57556130,2	MCF-7	breast:
4	chr5:57541847..57544684-chr5:57747160..57748861,2	MCF-7	breast:
5	chr5:57503850..57506829-chr5:57754542..57757314,3	MCF-7	breast:
6	chr5:57543326..57547430-chr5:57753022..57757263,5	MCF-7	breast:
7	chr5:57517523..57520170-chr5:57529878..57532281,2	MCF-7	breast:
8	chr5:57517523..57520170-chr5:57529878..57532281,2	MCF-7	breast:
9	chr5:57444209..57446462-chr5:57534291..57536169,2	K562	blood:
10	chr5:57527499..57530106-chr5:57539853..57541635,2	MCF-7	breast:
11	chr5:57527499..57530106-chr5:57539853..57541635,2	MCF-7	breast:
12	chr5:57531555..57534563-chr5:57754511..57756202,3	MCF-7	breast:
13	chr5:57534237..57536303-chr5:57746058..57748624,2	MCF-7	breast:
14	chr5:57391538..57393467-chr5:57534896..57536534,2	MCF-7	breast:
15	chr5:57499663..57502939-chr5:57754514..57757581,3	MCF-7	breast:
16	chr5:57529817..57531823-chr5:57533642..57536408,2	K562	blood:
17	chr5:57538142..57540625-chr5:57748575..57750284,2	MCF-7	breast:
18	chr5:57504705..57506362-chr5:57749048..57751694,2	MCF-7	breast:
19	chr5:57537158..57537698-chr6:93136804..93137665,2	MCF-7	breast:
20	chr5:57474524..57477052-chr5:57532644..57534284,2	MCF-7	breast:
21	chr5:57534680..57537180-chr5:57754656..57757715,3	MCF-7	breast:
22	chr5:57546757..57549531-chr5:57552284..57556177,4	MCF-7	breast:
23	chr5:57530338..57532834-chr5:57737218..57739511,2	MCF-7	breast:
24	chr5:57529817..57531823-chr5:57533642..57536408,2	K562	blood:
25	chr5:57535441..57538302-chr5:57538781..57541164,2	MCF-7	breast:
26	chr5:57533424..57535901-chr5:57754977..57757820,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 1301 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1301 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41445844	chr5:57502859-57502860	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7721911	chr5:57502871-57502872	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532689608	chr5:57502895-57502896	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs193196903	chr5:57502916-57502917	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148028079	chr5:57502922-57502923	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544295366	chr5:57502932-57502933	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140901247	chr5:57502941-57502942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77704063	chr5:57502974-57502975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2964209	chr5:57503024-57503025	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560206843	chr5:57503030-57503031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527545773	chr5:57503048-57503049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184741112	chr5:57503062-57503063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567251465	chr5:57503140-57503141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35117567	chr5:57503147-57503148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111561955	chr5:57503148-57503149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537988371	chr5:57503175-57503176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570586413	chr5:57503176-57503177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386688323	chr5:57503265-57503266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34139715	chr5:57503268-57503269	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73091729	chr5:57503313-57503314	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188366025	chr5:57503497-57503498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192245979	chr5:57503501-57503502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555387107	chr5:57503555-57503556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573687747	chr5:57503556-57503557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73091733	chr5:57503575-57503576	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562842844	chr5:57503582-57503583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578023120	chr5:57503597-57503598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544887634	chr5:57503605-57503606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560376387	chr5:57503617-57503618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527615224	chr5:57503628-57503629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183659819	chr5:57503630-57503631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560907822	chr5:57503636-57503637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56833485	chr5:57503637-57503638	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35178879	chr5:57503639-57503640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368363922	chr5:57503656-57503657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549705430	chr5:57503694-57503695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571275715	chr5:57503835-57503836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532199659	chr5:57503842-57503843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551714131	chr5:57503897-57503898	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566720740	chr5:57503910-57503911	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566664551	chr5:57503911-57503912	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs79029743	chr5:57503946-57503947	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189216520	chr5:57503963-57503964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567570926	chr5:57504012-57504013	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115943147	chr5:57504020-57504021	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181886682	chr5:57504025-57504026	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs578060619	chr5:57504026-57504027	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545465238	chr5:57504224-57504225	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184196248	chr5:57504246-57504247	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577179156	chr5:57504251-57504252	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57498400-57505400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:57502600-57503000	Enhancers	Fetal Lung	lung
3	chr5:57502600-57503800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:57502800-57503000	Enhancers	Aorta	Aorta
5	chr5:57502800-57504200	Enhancers	A549	lung
6	chr5:57503400-57504200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:57504000-57504800	Enhancers	Stomach Mucosa	stomach
8	chr5:57504200-57504600	Flanking Active TSS	A549	lung
9	chr5:57504600-57504800	Enhancers	Liver	Liver
10	chr5:57504600-57504800	Enhancers	A549	lung
11	chr5:57504800-57505600	Weak transcription	A549	lung
12	chr5:57505400-57506800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:57505600-57505800	Enhancers	A549	lung
14	chr5:57507400-57508000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:57519200-57519400	Enhancers	Ovary	ovary
16	chr5:57519600-57520000	Enhancers	Adipose Nuclei	Adipose
17	chr5:57520000-57520400	Weak transcription	Adipose Nuclei	Adipose
18	chr5:57520000-57520800	Enhancers	NHEK	skin
19	chr5:57520000-57521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:57520200-57520400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:57520200-57520600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:57520400-57520800	Active TSS	Right Atrium	heart
23	chr5:57520400-57521000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:57520400-57521200	Enhancers	Adipose Nuclei	Adipose
25	chr5:57520600-57521000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:57520600-57526000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:57520800-57526000	Weak transcription	NHEK	skin
28	chr5:57521000-57521200	Enhancers	Osteobl	bone
29	chr5:57521000-57522000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:57521000-57526000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:57521200-57522200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:57521200-57522200	Weak transcription	Adipose Nuclei	Adipose
33	chr5:57521200-57522200	Weak transcription	Osteobl	bone
34	chr5:57521600-57521800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:57521600-57522200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr5:57521800-57522000	Enhancers	Psoas Muscle	Psoas
37	chr5:57521800-57535600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:57522000-57525200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:57522000-57525800	Weak transcription	Psoas Muscle	Psoas
40	chr5:57522200-57522400	Enhancers	Adipose Nuclei	Adipose
41	chr5:57522200-57522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:57522200-57522600	Enhancers	Osteobl	bone
43	chr5:57522200-57522800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:57522200-57523000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:57522400-57522800	Enhancers	Fetal Heart	heart
46	chr5:57522600-57522800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr5:57522600-57531000	Weak transcription	Osteobl	bone
48	chr5:57522800-57524600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:57523000-57526200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:57524600-57525200	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links