Variant report

Variant	nsv882418
Chromosome Location	chr5:98447682-98694849
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:98469162..98471809-chr5:98495145..98496723,2	K562	blood:
2	chr5:98571402..98573856-chr5:98574423..98577083,2	K562	blood:
3	chr5:98656230..98656989-chr5:99647221..99648200,3	MCF-7	breast:
4	chr5:98683331..98686253-chr5:98686370..98688077,2	K562	blood:
5	chr5:98641996..98644469-chr5:98647051..98649595,2	K562	blood:
6	chr5:98440206..98440855-chr5:98503610..98504175,2	MCF-7	breast:
7	chr5:98461688..98463310-chr5:98465572..98467259,2	K562	blood:
8	chr5:98469162..98471809-chr5:98495145..98496723,2	K562	blood:
9	chr5:98641996..98644469-chr5:98647051..98649595,2	K562	blood:
10	chr5:98683331..98686253-chr5:98686370..98688077,2	K562	blood:
11	chr5:98461688..98463310-chr5:98465572..98467259,2	K562	blood:
12	chr5:98687563..98689159-chr5:98702688..98704857,2	MCF-7	breast:
13	chr5:98684216..98686080-chr5:98701796..98703899,2	MCF-7	breast:
14	chr5:98571402..98573856-chr5:98574423..98577083,2	K562	blood:
15	chr5:98691604..98693198-chr5:98695022..98696539,2	K562	blood:
16	chr16:12069041..12070712-chr5:98447812..98450049,2	MCF-7	breast:
17	chr5:98264688..98266479-chr5:98468438..98470812,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248489	chromatin interactions
ENSG00000048471	chromatin interactions
ENSG00000234719	chromatin interactions

Extended variants
information (count: 1999 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1999 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12054706	chr5:98447682-98447683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12054753	chr5:98447717-98447718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566831955	chr5:98447730-98447731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564353478	chr5:98447731-98447732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192019868	chr5:98447737-98447738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74947855	chr5:98447754-98447755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377239585	chr5:98447830-98447831	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142118798	chr5:98447928-98447929	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs556643961	chr5:98447942-98447943	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs17166694	chr5:98447943-98447944	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145947730	chr5:98447997-98447998	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs554162842	chr5:98448013-98448014	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572470043	chr5:98448025-98448026	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533386882	chr5:98448056-98448057	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs10477873	chr5:98448067-98448068	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs576996185	chr5:98448086-98448087	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544048741	chr5:98448095-98448096	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs34624126	chr5:98448176-98448177	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562257569	chr5:98448181-98448182	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533667217	chr5:98448222-98448223	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185025541	chr5:98448341-98448342	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs551098248	chr5:98448457-98448458	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566177790	chr5:98448467-98448468	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs541426957	chr5:98448501-98448502	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559761907	chr5:98448521-98448522	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs527279049	chr5:98448560-98448561	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs533632736	chr5:98448612-98448613	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs555078020	chr5:98448654-98448655	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs190714476	chr5:98448685-98448686	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531951752	chr5:98448699-98448700	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs367919788	chr5:98448700-98448701	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs397943405	chr5:98448727-98448728	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550069065	chr5:98448760-98448761	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375766106	chr5:98448764-98448765	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536003168	chr5:98448766-98448767	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554299508	chr5:98448803-98448804	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12513867	chr5:98448804-98448805	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574551362	chr5:98448820-98448821	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368861679	chr5:98448834-98448835	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs193025911	chr5:98448835-98448836	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs143614844	chr5:98448841-98448842	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs544405352	chr5:98448865-98448866	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs555891521	chr5:98448866-98448867	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574288008	chr5:98448867-98448868	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs541562535	chr5:98448872-98448873	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs184658043	chr5:98448900-98448901	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs527306964	chr5:98448907-98448908	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372148996	chr5:98448974-98448975	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs189169068	chr5:98448979-98448980	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537668973	chr5:98448999-98449000	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98447600-98447800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:98455800-98456800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:98456000-98456800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:98465200-98465600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:98465200-98465800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:98465200-98466200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:98465200-98466600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:98465400-98466000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:98465400-98466200	Enhancers	Adipose Nuclei	Adipose
10	chr5:98465600-98466000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:98465600-98466000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:98465600-98466000	Enhancers	Fetal Kidney	kidney
13	chr5:98465600-98466200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:98465600-98466200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:98465600-98466600	Enhancers	Primary hematopoietic stem cells	blood
16	chr5:98465800-98466200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:98466200-98466800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:98502400-98503200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:98502600-98502800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:98502600-98506600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:98502800-98503200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:98502800-98504000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:98503200-98503600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:98503200-98504400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:98503600-98504200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:98503800-98505800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:98504000-98505600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:98504200-98505200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:98504400-98505200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:98504600-98505400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:98504800-98505000	Enhancers	Brain Anterior Caudate	brain
32	chr5:98504800-98505600	Enhancers	HUVEC	blood vessel
33	chr5:98504800-98506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:98505200-98505400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:98505200-98505600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr5:98506000-98506400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:98506400-98506800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:98506600-98507400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:98507400-98507600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:98510400-98513600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:98511800-98512200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr5:98512000-98515600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:98513600-98513800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:98513800-98514800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:98514800-98515400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:98514800-98515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:98523400-98524000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:98523400-98524000	Enhancers	HUVEC	blood vessel
49	chr5:98524000-98526800	Weak transcription	HUVEC	blood vessel
50	chr5:98526600-98526800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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