Variant report

Variant	nsv882386
Chromosome Location	chr5:93973177-94008969
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:23)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:93966675..93969302-chr5:93973878..93976384,2	K562	blood:
2	chr5:93953624..93955883-chr5:93971735..93973359,2	K562	blood:
3	chr5:93983063..93985415-chr5:93987503..93990364,2	K562	blood:
4	chr5:93954931..93957124-chr5:93988357..93990518,2	K562	blood:
5	chr5:93977937..93979943-chr5:93986873..93988612,2	K562	blood:
6	chr5:93983063..93985415-chr5:93987503..93990364,2	K562	blood:
7	chr5:93973156..93974840-chr5:93976350..93977887,2	MCF-7	breast:
8	chr5:93978811..93981676-chr5:93982231..93984096,2	K562	blood:
9	chr5:93969932..93973613-chr5:93973766..93976891,3	K562	blood:
10	chr5:93954423..93956135-chr5:93981636..93983140,2	MCF-7	breast:
11	chr5:93979164..93980988-chr5:93992577..93994431,2	MCF-7	breast:
12	chr5:93992680..93994968-chr5:93995971..93998470,2	K562	blood:
13	chr5:93983063..93985400-chr5:93988738..93990364,2	K562	blood:
14	chr5:93954192..93956336-chr5:93995387..93997167,2	K562	blood:
15	chr5:93969932..93973613-chr5:93973766..93976891,3	K562	blood:
16	chr5:93980538..93982514-chr5:93987987..93990202,2	MCF-7	breast:
17	chr5:93973156..93974840-chr5:93976350..93977887,2	MCF-7	breast:
18	chr5:93992680..93994968-chr5:93995971..93998470,2	K562	blood:
19	chr5:93977937..93979943-chr5:93986873..93988612,2	K562	blood:
20	chr5:93980538..93982514-chr5:93987987..93990202,2	MCF-7	breast:
21	chr5:93983063..93985400-chr5:93988738..93990364,2	K562	blood:
22	chr5:93979164..93980988-chr5:93992577..93994431,2	MCF-7	breast:
23	chr5:93978811..93981676-chr5:93982231..93984096,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM81B-6	chr5:93988977-93989033	NONHSAT102829
2	lnc-FAM81B-6	chr5:93978978-93979140	NONHSAT102829
3	lnc-FAM81B-6	chr5:93985159-93985302	NONHSAT102829
4	lnc-FAM81B-6	chr5:93987407-93987550	NONHSAT102829

No data

Variant related genes	Relation type
ENSG00000270133	chromatin interactions
ENSG00000185261	chromatin interactions
ENSG00000133302	chromatin interactions

Extended variants
information (count: 1339 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1339 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7446179	chr5:93973177-93973178	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542079185	chr5:93973211-93973212	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs543906652	chr5:93973232-93973233	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs143640542	chr5:93973257-93973258	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs530685434	chr5:93973278-93973279	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs147263284	chr5:93973326-93973327	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs62365672	chr5:93973327-93973328	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs563885139	chr5:93973393-93973394	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12656694	chr5:93973405-93973406	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573709077	chr5:93973416-93973417	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74376819	chr5:93973443-93973444	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116288609	chr5:93973516-93973517	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374818040	chr5:93973524-93973525	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149384846	chr5:93973542-93973543	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12656300	chr5:93973587-93973588	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537306335	chr5:93973590-93973591	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528849107	chr5:93973622-93973623	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557638063	chr5:93973625-93973626	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144669529	chr5:93973646-93973647	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148518629	chr5:93973665-93973666	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187550807	chr5:93973671-93973672	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559442515	chr5:93973706-93973707	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573403095	chr5:93973726-93973727	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193283285	chr5:93973745-93973746	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555233837	chr5:93973796-93973797	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575403702	chr5:93973806-93973807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79180380	chr5:93973833-93973834	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73140270	chr5:93973876-93973877	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs66488253	chr5:93973879-93973880	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533465418	chr5:93973901-93973902	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185548588	chr5:93973922-93973923	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528921880	chr5:93973945-93973946	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548679416	chr5:93973947-93973948	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562095961	chr5:93973976-93973977	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189107370	chr5:93973977-93973978	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550981619	chr5:93973985-93973986	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571156955	chr5:93974008-93974009	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569722137	chr5:93974021-93974022	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143055963	chr5:93974033-93974034	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546985103	chr5:93974041-93974042	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146154207	chr5:93974056-93974057	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535909487	chr5:93974067-93974068	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78058424	chr5:93974073-93974074	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575338762	chr5:93974085-93974086	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs66936860	chr5:93974118-93974119	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557748438	chr5:93974122-93974123	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577490283	chr5:93974124-93974125	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540152208	chr5:93974129-93974130	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369215592	chr5:93974130-93974131	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181580548	chr5:93974175-93974176	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:837 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955000-93995400	Weak transcription	Gastric	stomach
2	chr5:93955600-93974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:93955600-93975200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:93955600-93975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:93955800-93973200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:93955800-93974000	Weak transcription	HMEC	breast
8	chr5:93955800-93995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:93955800-94027600	Weak transcription	NH-A	brain
10	chr5:93956200-93993200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:93957800-93982400	Weak transcription	Psoas Muscle	Psoas
12	chr5:93959000-93976400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:93962800-93975400	Weak transcription	NHLF	lung
14	chr5:93963200-93973200	Weak transcription	Esophagus	oesophagus
15	chr5:93963800-93995800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:93964400-93973600	Strong transcription	Hela-S3	cervix
17	chr5:93964600-93995200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:93965800-93973600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:93965800-93988400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:93966600-93974800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:93966600-93980000	Weak transcription	Left Ventricle	heart
22	chr5:93966600-93990800	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:93967200-93974400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:93967200-93979600	Weak transcription	Brain Anterior Caudate	brain
25	chr5:93967400-93974400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:93967400-93974800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:93967400-93975200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:93967400-93975400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:93967400-93991400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:93967600-93979800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:93967600-93988200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:93967800-93973400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:93967800-93978200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:93967800-93991000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:93968000-93973400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:93968000-93974400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:93968000-93974400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:93968000-93990200	Weak transcription	Fetal Kidney	kidney
39	chr5:93968000-93995200	Weak transcription	HSMM	muscle
40	chr5:93968200-93973200	Weak transcription	Liver	Liver
41	chr5:93968200-93975000	Weak transcription	Fetal Heart	heart
42	chr5:93968400-93974400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:93968400-93975800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:93968800-93974400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:93969000-93973400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:93969000-93973800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:93969000-93976600	ZNF genes & repeats	GM12878-XiMat	blood
48	chr5:93969200-93978200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:93969400-94008400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:93969600-93977400	ZNF genes & repeats	Primary B cells from cord blood	blood

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