Variant report

Variant	nsv1030922
Chromosome Location	chr5:98936480-99131593
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:99100175..99102793-chr5:99107234..99109956,2	MCF-7	breast:
2	chr5:99100175..99102793-chr5:99107234..99109956,2	MCF-7	breast:
3	chr5:98973640..98976479-chr5:98981401..98983390,2	MCF-7	breast:
4	chr5:99005599..99009743-chr5:99010276..99013460,3	MCF-7	breast:
5	chr5:98936687..98938908-chr5:98939757..98941511,2	MCF-7	breast:
6	chr5:99014412..99016178-chr5:99017039..99019212,2	K562	blood:
7	chr5:98973640..98976479-chr5:98981401..98983390,2	MCF-7	breast:
8	chr5:99014412..99016178-chr5:99017039..99019212,2	K562	blood:
9	chr5:98983247..98985665-chr5:98986689..98988477,2	K562	blood:
10	chr5:98936687..98938908-chr5:98939757..98941511,2	MCF-7	breast:
11	chr5:99089940..99092003-chr5:99110491..99113397,2	MCF-7	breast:
12	chr5:99089940..99092003-chr5:99110491..99113397,2	MCF-7	breast:
13	chr5:98983247..98985665-chr5:98986689..98988477,2	K562	blood:
14	chr5:99005599..99009743-chr5:99010276..99013460,3	MCF-7	breast:

No data

Extended variants
information (count: 1202 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1202 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62373579	chr5:98936672-98936673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377692901	chr5:98936690-98936691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565616986	chr5:98936719-98936720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182721592	chr5:98936740-98936741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558501464	chr5:98936768-98936769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3850908	chr5:98936840-98936841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs544341020	chr5:98936859-98936860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556613453	chr5:98936870-98936871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188862238	chr5:98936907-98936908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542423732	chr5:98936946-98936947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138356651	chr5:98936985-98936986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374936273	chr5:98936987-98936988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193218565	chr5:98936991-98936992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139962057	chr5:98937032-98937033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564171431	chr5:98937074-98937075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546538130	chr5:98937090-98937091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149863745	chr5:98937091-98937092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367976918	chr5:98937108-98937109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538450055	chr5:98937126-98937127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542435069	chr5:98937129-98937130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531344810	chr5:98937133-98937134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115742809	chr5:98937152-98937153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373539453	chr5:98937174-98937175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528982059	chr5:98937175-98937176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547155436	chr5:98937176-98937177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565560119	chr5:98937197-98937198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539303074	chr5:98937210-98937211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371516681	chr5:98937311-98937312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558043000	chr5:98937360-98937361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79142482	chr5:98937375-98937376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563821900	chr5:98937436-98937437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556313536	chr5:98937457-98937458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574973107	chr5:98937483-98937484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542356419	chr5:98937502-98937503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184482816	chr5:98937525-98937526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572678751	chr5:98937543-98937544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531274845	chr5:98937569-98937570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376953161	chr5:98937598-98937599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189373243	chr5:98937609-98937610	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs531957599	chr5:98937649-98937650	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs370306495	chr5:98937724-98937725	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549469369	chr5:98937741-98937742	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534401583	chr5:98937831-98937832	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543384049	chr5:98937851-98937852	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs73149495	chr5:98937854-98937855	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144672738	chr5:98937855-98937856	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs547093854	chr5:98937873-98937874	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs564875404	chr5:98937909-98937910	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs532215779	chr5:98937926-98937927	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs374642403	chr5:98937939-98937940	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98936600-98937200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr5:98936600-98937800	Enhancers	HUVEC	blood vessel
3	chr5:98936600-98938200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:98937200-98937600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:98937200-98937600	Enhancers	Dnd41	blood
6	chr5:98937400-98938000	Enhancers	Adipose Nuclei	Adipose
7	chr5:98937600-98938000	Flanking Active TSS	Dnd41	blood
8	chr5:98937800-98938000	Enhancers	Pancreas	Pancrea
9	chr5:98938000-98938200	Enhancers	Dnd41	blood
10	chr5:98939400-98946400	Weak transcription	Pancreas	Pancrea
11	chr5:98950600-98951200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:98950800-98951200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:98957600-98958000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:98957800-98958200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:98957800-98958200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:98957800-98958400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:98958000-98958400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:98958000-98958600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:98972000-98972400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:98979000-98979200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:98981800-98982200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:98981800-98982200	Enhancers	NHEK	skin
23	chr5:98982000-98982200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:98982200-98983600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:98983600-98983800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:98983800-98984800	Enhancers	Fetal Heart	heart
27	chr5:98984800-98985800	Weak transcription	Fetal Heart	heart
28	chr5:98985800-98986000	Enhancers	Fetal Heart	heart
29	chr5:98993800-98994800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:99010000-99010800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:99011600-99012000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:99011600-99012000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:99011800-99012200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:99014800-99015400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:99015000-99015400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:99023800-99024200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:99029200-99029400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:99030400-99030800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr5:99030400-99030800	Active TSS	A549	lung
40	chr5:99034000-99035200	Enhancers	HUVEC	blood vessel
41	chr5:99038200-99039000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:99038600-99039200	Enhancers	NHEK	skin
43	chr5:99042000-99042200	ZNF genes & repeats	Gastric	stomach
44	chr5:99042200-99043600	Weak transcription	Gastric	stomach
45	chr5:99043600-99043800	ZNF genes & repeats	Gastric	stomach
46	chr5:99055400-99056400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:99055600-99056400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:99055600-99056600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
49	chr5:99055800-99056600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:99056000-99056400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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