Variant report

Variant	nsv882658
Chromosome Location	chr5:105350426-105453357
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:105355969..105357531-chr5:105359984..105362955,2	MCF-7	breast:
2	chr5:105350170..105353014-chr5:105353588..105356081,2	MCF-7	breast:
3	chr5:105355969..105357531-chr5:105359984..105362955,2	MCF-7	breast:
4	chr5:105390923..105392932-chr5:105396217..105399013,2	MCF-7	breast:
5	chr5:105390923..105392932-chr5:105396217..105399013,2	MCF-7	breast:
6	chr5:105441681..105443385-chr5:105444748..105446798,2	MCF-7	breast:
7	chr5:105350170..105353014-chr5:105353588..105356081,2	MCF-7	breast:
8	chr5:105429270..105430863-chr5:105571173..105574118,2	MCF-7	breast:
9	chr5:105441681..105443385-chr5:105444748..105446798,2	MCF-7	breast:
10	chr5:105428632..105431100-chr5:105575267..105577063,2	MCF-7	breast:
11	chr5:105358616..105362341-chr5:105362697..105365836,3	K562	blood:
12	chr5:105358616..105362341-chr5:105362697..105365836,3	K562	blood:

No data

Extended variants
information (count: 1389 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1389 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4957840	chr5:105350426-105350427	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571224674	chr5:105350429-105350430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540072482	chr5:105350438-105350439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537063984	chr5:105350445-105350446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558122400	chr5:105350491-105350492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573491108	chr5:105350492-105350493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4957841	chr5:105350555-105350556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542719723	chr5:105350559-105350560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568008203	chr5:105350604-105350605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528188148	chr5:105350633-105350634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140433778	chr5:105350641-105350642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553666190	chr5:105350650-105350651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573478794	chr5:105350701-105350702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545243778	chr5:105350727-105350728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114038337	chr5:105350744-105350745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575635294	chr5:105350754-105350755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544621544	chr5:105350779-105350780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573728704	chr5:105350826-105350827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150411249	chr5:105350845-105350846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529191302	chr5:105350894-105350895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138155283	chr5:105350915-105350916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559172882	chr5:105350966-105350967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528308460	chr5:105350971-105350972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551251229	chr5:105350982-105350983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192197027	chr5:105350992-105350993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78902533	chr5:105350997-105350998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530519709	chr5:105351064-105351065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114570957	chr5:105351077-105351078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567282160	chr5:105351082-105351083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544286779	chr5:105351107-105351108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367934475	chr5:105351152-105351153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567135969	chr5:105351194-105351195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539256752	chr5:105351203-105351204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558864630	chr5:105351212-105351213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575738244	chr5:105351228-105351229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537943002	chr5:105351250-105351251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183662466	chr5:105351322-105351323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115293108	chr5:105351334-105351335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574494894	chr5:105351361-105351362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79148622	chr5:105351389-105351390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559234994	chr5:105351407-105351408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544728953	chr5:105351426-105351427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564790987	chr5:105351436-105351437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556465704	chr5:105351452-105351453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573036828	chr5:105351549-105351550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189056042	chr5:105351622-105351623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564924708	chr5:105351735-105351736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564856905	chr5:105351768-105351769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149315793	chr5:105351818-105351819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78257325	chr5:105351825-105351826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105340800-105352400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:105350200-105350600	Enhancers	Colon Smooth Muscle	Colon
3	chr5:105350200-105350800	Enhancers	Ovary	ovary
4	chr5:105350200-105351400	Enhancers	Adipose Nuclei	Adipose
5	chr5:105351400-105352400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:105351400-105354600	Weak transcription	Adipose Nuclei	Adipose
7	chr5:105351800-105353400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:105352400-105352800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:105352400-105353200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:105352400-105353400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:105352400-105353600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:105352600-105353200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:105352800-105353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:105353000-105353400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:105353200-105355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:105354600-105355400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:105354600-105356000	Enhancers	Adipose Nuclei	Adipose
18	chr5:105354600-105356600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:105354800-105356600	Enhancers	Osteobl	bone
20	chr5:105355200-105355600	Enhancers	Aorta	Aorta
21	chr5:105355200-105355800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:105355400-105356400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:105356400-105357000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:105406800-105407600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:105415200-105415400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:105415400-105415800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:105415400-105416000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:105415400-105417800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:105415600-105416600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:105416000-105416200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:105416000-105417000	Enhancers	Fetal Heart	heart
32	chr5:105416000-105417200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:105416200-105419600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:105416400-105417000	Enhancers	Aorta	Aorta
35	chr5:105416400-105417200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:105416600-105419400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:105416800-105421000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:105417800-105420800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:105419200-105421000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:105419400-105420600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:105419400-105420600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:105419400-105421600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:105419600-105420000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:105419600-105420600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:105419600-105420600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:105419600-105422000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr5:105419600-105423000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:105419800-105420000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr5:105419800-105421200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:105420000-105421000	Weak transcription	H1 Cell Line	embryonic stem cell

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