Variant report

Variant	nsv882656
Chromosome Location	chr5:105326521-105453357
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	chr5:105390923..105392932-chr5:105396217..105399013,2	MCF-7	breast:
2	chr5:105355969..105357531-chr5:105359984..105362955,2	MCF-7	breast:
3	chr5:105350170..105353014-chr5:105353588..105356081,2	MCF-7	breast:
4	chr5:105428632..105431100-chr5:105575267..105577063,2	MCF-7	breast:
5	chr5:105355969..105357531-chr5:105359984..105362955,2	MCF-7	breast:
6	chr5:105441681..105443385-chr5:105444748..105446798,2	MCF-7	breast:
7	chr5:105441681..105443385-chr5:105444748..105446798,2	MCF-7	breast:
8	chr5:105350170..105353014-chr5:105353588..105356081,2	MCF-7	breast:
9	chr5:105358616..105362341-chr5:105362697..105365836,3	K562	blood:
10	chr5:105358616..105362341-chr5:105362697..105365836,3	K562	blood:
11	chr5:105429270..105430863-chr5:105571173..105574118,2	MCF-7	breast:
12	chr5:105390923..105392932-chr5:105396217..105399013,2	MCF-7	breast:

No data

Extended variants
information (count: 1925 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1925 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540920546	chr5:105327221-105327222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138757396	chr5:105327302-105327303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142684215	chr5:105327318-105327319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546340944	chr5:105327348-105327349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577643017	chr5:105327364-105327365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375517465	chr5:105327408-105327409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557960885	chr5:105327468-105327469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200571827	chr5:105327475-105327476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562861179	chr5:105327484-105327485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531783972	chr5:105327510-105327511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548186447	chr5:105327518-105327519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568104092	chr5:105327533-105327534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114456970	chr5:105327537-105327538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73778789	chr5:105327542-105327543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566694360	chr5:105327548-105327549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186343579	chr5:105327562-105327563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576639349	chr5:105327563-105327564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188013503	chr5:105327568-105327569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147344528	chr5:105327577-105327578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537909026	chr5:105327580-105327581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554647638	chr5:105327624-105327625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373616856	chr5:105327636-105327637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75639469	chr5:105327666-105327667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574483235	chr5:105327682-105327683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540959583	chr5:105327704-105327705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139046882	chr5:105327727-105327728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149629717	chr5:105327770-105327771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11949034	chr5:105333676-105333677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147813002	chr5:105333689-105333690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372040153	chr5:105333690-105333691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573873913	chr5:105333703-105333704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544468805	chr5:105333723-105333724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61049504	chr5:105333757-105333758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187725389	chr5:105333773-105333774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375381325	chr5:105333775-105333776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141336014	chr5:105333796-105333797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548148809	chr5:105334015-105334016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560851697	chr5:105334057-105334058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202021529	chr5:105334086-105334087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192645491	chr5:105334127-105334128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184235368	chr5:105334155-105334156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533269199	chr5:105334156-105334157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538384532	chr5:105334245-105334246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112447945	chr5:105334254-105334255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570603677	chr5:105334262-105334263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544645876	chr5:105334275-105334276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138003096	chr5:105334283-105334284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554561207	chr5:105334285-105334286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149029004	chr5:105334304-105334305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534501284	chr5:105334313-105334314	Weak transcription	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:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105327200-105327800	Enhancers	Fetal Brain Male	brain
2	chr5:105333600-105333800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:105334000-105335000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:105335000-105335400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:105335000-105335400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:105335000-105335400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:105339800-105340600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:105339800-105341000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:105340000-105340400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:105340000-105340600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:105340000-105340600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:105340000-105340800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:105340000-105340800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:105340000-105341000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:105340800-105352400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:105350200-105350600	Enhancers	Colon Smooth Muscle	Colon
17	chr5:105350200-105350800	Enhancers	Ovary	ovary
18	chr5:105350200-105351400	Enhancers	Adipose Nuclei	Adipose
19	chr5:105351400-105352400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:105351400-105354600	Weak transcription	Adipose Nuclei	Adipose
21	chr5:105351800-105353400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:105352400-105352800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:105352400-105353200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr5:105352400-105353400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:105352400-105353600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:105352600-105353200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:105352800-105353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:105353000-105353400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:105353200-105355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:105354600-105355400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:105354600-105356000	Enhancers	Adipose Nuclei	Adipose
32	chr5:105354600-105356600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:105354800-105356600	Enhancers	Osteobl	bone
34	chr5:105355200-105355600	Enhancers	Aorta	Aorta
35	chr5:105355200-105355800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:105355400-105356400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:105356400-105357000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:105406800-105407600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr5:105415200-105415400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:105415400-105415800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:105415400-105416000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:105415400-105417800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:105415600-105416600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:105416000-105416200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:105416000-105417000	Enhancers	Fetal Heart	heart
46	chr5:105416000-105417200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:105416200-105419600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:105416400-105417000	Enhancers	Aorta	Aorta
49	chr5:105416400-105417200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:105416600-105419400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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