Variant report

Variant	nsv471631
Chromosome Location	chr5:98597573-98786486
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	chr5:98683331..98686253-chr5:98686370..98688077,2	K562	blood:
2	chr5:98691604..98693198-chr5:98695022..98696539,2	K562	blood:
3	chr5:98684216..98686080-chr5:98701796..98703899,2	MCF-7	breast:
4	chr5:98684216..98686080-chr5:98701796..98703899,2	MCF-7	breast:
5	chr5:98641996..98644469-chr5:98647051..98649595,2	K562	blood:
6	chr5:98691604..98693198-chr5:98695022..98696539,2	K562	blood:
7	chr5:98641996..98644469-chr5:98647051..98649595,2	K562	blood:
8	chr16:20680901..20681728-chr5:98717008..98717838,2	MCF-7	breast:
9	chr5:98683331..98686253-chr5:98686370..98688077,2	K562	blood:
10	chr5:98687563..98689159-chr5:98702688..98704857,2	MCF-7	breast:
11	chr5:98656230..98656989-chr5:99647221..99648200,3	MCF-7	breast:
12	chr5:98687563..98689159-chr5:98702688..98704857,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166743	chromatin interactions

Extended variants
information (count: 1707 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1707 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574391291	chr5:98615201-98615202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144455618	chr5:98615202-98615203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560071944	chr5:98615242-98615243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546081501	chr5:98615252-98615253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191949813	chr5:98615298-98615299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147846606	chr5:98615304-98615305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373124987	chr5:98615321-98615322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564342275	chr5:98615322-98615323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116644514	chr5:98615334-98615335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550264541	chr5:98615352-98615353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553712106	chr5:98615354-98615355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183370244	chr5:98615376-98615377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187556394	chr5:98615381-98615382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550003776	chr5:98615419-98615420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570138610	chr5:98615457-98615458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534131437	chr5:98615492-98615493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59924308	chr5:98615534-98615535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10067666	chr5:98615539-98615540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs370181679	chr5:98615582-98615583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371186855	chr5:98621625-98621626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527828045	chr5:98621705-98621706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552208726	chr5:98621723-98621724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115754168	chr5:98621768-98621769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537818446	chr5:98621937-98621938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147830396	chr5:98621944-98621945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569089469	chr5:98621947-98621948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138101632	chr5:98640821-98640822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548256294	chr5:98640829-98640830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142679884	chr5:98640834-98640835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569146637	chr5:98640866-98640867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528346041	chr5:98640904-98640905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188877701	chr5:98640910-98640911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576567277	chr5:98640938-98640939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193235290	chr5:98640942-98640943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184574109	chr5:98640943-98640944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550625570	chr5:98640962-98640963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568828980	chr5:98640984-98640985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536257335	chr5:98640988-98640989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554222558	chr5:98640998-98640999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573528711	chr5:98641013-98641014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534214800	chr5:98641034-98641035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558762735	chr5:98641035-98641036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577002574	chr5:98641049-98641050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188238707	chr5:98641061-98641062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540789465	chr5:98641081-98641082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150499215	chr5:98641146-98641147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563015869	chr5:98641177-98641178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574799852	chr5:98641241-98641242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139465628	chr5:98641267-98641268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542209210	chr5:98641312-98641313	Enhancers	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98615200-98615600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:98621600-98622000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:98640800-98641200	Enhancers	Fetal Brain Female	brain
4	chr5:98641000-98641600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:98641000-98641800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:98641200-98641600	Enhancers	Fetal Lung	lung
7	chr5:98641600-98643400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:98641600-98644800	Weak transcription	Fetal Lung	lung
9	chr5:98641800-98643200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:98643200-98644600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:98643400-98644600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr5:98644600-98646200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:98644600-98646400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:98644800-98645200	Enhancers	Fetal Lung	lung
15	chr5:98645200-98650200	Weak transcription	Fetal Lung	lung
16	chr5:98646200-98647400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:98646400-98647400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:98647400-98648200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:98647400-98649000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:98648200-98649400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr5:98649000-98650800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:98649400-98653200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr5:98649600-98651200	Enhancers	Fetal Stomach	stomach
24	chr5:98650200-98652600	Enhancers	Fetal Lung	lung
25	chr5:98650800-98651200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr5:98651200-98652200	Weak transcription	Fetal Stomach	stomach
27	chr5:98651200-98653800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:98652200-98652800	Enhancers	Fetal Stomach	stomach
29	chr5:98652400-98652800	Enhancers	Colon Smooth Muscle	Colon
30	chr5:98653200-98653400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr5:98653800-98655200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr5:98656200-98656400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr5:98684000-98684400	Active TSS	A549	lung
34	chr5:98688400-98689000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:98691600-98692200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:98691600-98692400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:98695600-98696000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr5:98695600-98696200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr5:98699200-98699600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:98699200-98700400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:98699400-98700000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:98699400-98700000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:98699600-98700000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:98700400-98705400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:98704400-98706200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr5:98704600-98706200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:98704600-98706400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:98704600-98706400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:98705000-98705600	Enhancers	Fetal Brain Male	brain
50	chr5:98705400-98706600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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