Variant report

Variant	nsv1035022
Chromosome Location	chr5:95487901-95526796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95525860..95527522-chr5:95528640..95530648,2	K562	blood:
2	chr5:95514396..95516278-chr5:95516334..95518457,2	MCF-7	breast:
3	chr5:95482304..95484710-chr5:95487757..95489395,2	K562	blood:
4	chr5:95514396..95516278-chr5:95516334..95518457,2	MCF-7	breast:
5	chr5:95295813..95297730-chr5:95509691..95513158,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251314	chromatin interactions
ENSG00000118985	chromatin interactions

Extended variants
information (count: 1497 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1497 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180744364	chr5:95487938-95487939	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146021875	chr5:95488063-95488064	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10069928	chr5:95488078-95488079	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569306486	chr5:95488082-95488083	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186176556	chr5:95488196-95488197	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551735783	chr5:95488419-95488420	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200249644	chr5:95488480-95488481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201538077	chr5:95488483-95488484	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200350894	chr5:95488484-95488485	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76182565	chr5:95488485-95488486	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571476905	chr5:95488509-95488510	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188397369	chr5:95488534-95488535	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181206564	chr5:95488555-95488556	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114117381	chr5:95488580-95488581	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567476155	chr5:95488588-95488589	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536408217	chr5:95488597-95488598	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73773918	chr5:95488624-95488625	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576055765	chr5:95488640-95488641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544715221	chr5:95488661-95488662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73773919	chr5:95488781-95488782	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs578221892	chr5:95488805-95488806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11749497	chr5:95488833-95488834	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569903622	chr5:95488848-95488849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11743163	chr5:95488858-95488859	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185858734	chr5:95488865-95488866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542776604	chr5:95488875-95488876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190622601	chr5:95488951-95488952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562875634	chr5:95489004-95489005	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554317039	chr5:95489020-95489021	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138801744	chr5:95489081-95489082	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549785690	chr5:95489173-95489174	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551529266	chr5:95489195-95489196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149364981	chr5:95489206-95489207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375863524	chr5:95489207-95489208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144738142	chr5:95489237-95489238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538504542	chr5:95489259-95489260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547715201	chr5:95489313-95489314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567541479	chr5:95489356-95489357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536468151	chr5:95489357-95489358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113713010	chr5:95489421-95489422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556310807	chr5:95489441-95489442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562308103	chr5:95489513-95489514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554981621	chr5:95489514-95489515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113984104	chr5:95489531-95489532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569679671	chr5:95489627-95489628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148077911	chr5:95489629-95489630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183046220	chr5:95489650-95489651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558310543	chr5:95489663-95489664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187009598	chr5:95489716-95489717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4869127	chr5:95489717-95489718	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
Williams Syndrome	20824207	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Renal cell carcinoma	21215367	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95478200-95493200	Weak transcription	Gastric	stomach
2	chr5:95479400-95489000	Weak transcription	Pancreas	Pancrea
3	chr5:95480200-95491000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:95481600-95488000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:95482200-95491800	Weak transcription	Fetal Intestine Large	intestine
6	chr5:95482600-95494800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:95482800-95494800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:95483600-95488400	Enhancers	NHEK	skin
9	chr5:95483800-95488200	Enhancers	HMEC	breast
10	chr5:95484800-95488600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:95486400-95493400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:95486400-95494600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:95486400-95495000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:95486600-95491000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:95486600-95493200	Weak transcription	A549	lung
16	chr5:95486800-95488200	Enhancers	Stomach Smooth Muscle	stomach
17	chr5:95486800-95490600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:95486800-95490600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:95486800-95491000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:95486800-95491400	Weak transcription	Esophagus	oesophagus
21	chr5:95486800-95506400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:95487200-95488200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:95487400-95488000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:95487400-95488200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:95487400-95488200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:95487400-95488400	Enhancers	Stomach Mucosa	stomach
27	chr5:95487600-95488000	Enhancers	Brain Substantia Nigra	brain
28	chr5:95487600-95488000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr5:95487600-95488400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:95487800-95489000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:95488000-95490600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:95488200-95489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:95488200-95490600	Weak transcription	HMEC	breast
34	chr5:95488400-95490400	Weak transcription	NHEK	skin
35	chr5:95488600-95489000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:95489000-95489200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:95489000-95489200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:95489000-95489200	Enhancers	Pancreas	Pancrea
39	chr5:95489200-95493200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:95489800-95490400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:95490400-95491200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:95490400-95491800	Enhancers	NHEK	skin
43	chr5:95490400-95495000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:95490600-95491800	Enhancers	HMEC	breast
45	chr5:95490600-95492400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:95490600-95494200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:95490600-95495000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:95491000-95491200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:95491000-95491400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr5:95491000-95491600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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