Variant report

Variant	nsv4995
Chromosome Location	chr5:128047181-128092021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:128039425..128040277-chr5:128063514..128064203,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ISOC1-1	chr5:128078130-128078522	XLOC_004544

Extended variants
information (count: 414 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534112810	chr5:128056000-128056001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548011143	chr5:128056074-128056075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149259624	chr5:128056100-128056101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540132417	chr5:128056105-128056106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143497588	chr5:128056109-128056110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369333774	chr5:128056116-128056117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191282870	chr5:128056127-128056128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544005696	chr5:128071433-128071434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557325698	chr5:128071469-128071470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574323179	chr5:128071477-128071478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374457903	chr5:128071487-128071488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377536242	chr5:128071496-128071497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189753631	chr5:128071514-128071515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531026997	chr5:128071578-128071579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562225253	chr5:128071613-128071614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545070963	chr5:128071659-128071660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550965269	chr5:128071683-128071684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs247176	chr5:128071740-128071741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551005074	chr5:128071790-128071791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114825958	chr5:128071799-128071800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182464391	chr5:128071821-128071822	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs187022123	chr5:128071835-128071836	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs569847605	chr5:128071862-128071863	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs114892928	chr5:128071885-128071886	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548980695	chr5:128071909-128071910	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs564465204	chr5:128071939-128071940	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs565653192	chr5:128071970-128071971	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs247177	chr5:128072042-128072043	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557847146	chr5:128072049-128072050	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571324488	chr5:128072050-128072051	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537245899	chr5:128072089-128072090	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs139740809	chr5:128072171-128072172	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs247178	chr5:128072172-128072173	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191895075	chr5:128072183-128072184	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs247179	chr5:128072198-128072199	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs543682980	chr5:128072264-128072265	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116828529	chr5:128072344-128072345	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs545010373	chr5:128072353-128072354	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs183636360	chr5:128072382-128072383	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs575737999	chr5:128072401-128072402	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs375286020	chr5:128072419-128072420	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543239681	chr5:128072462-128072463	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs563530657	chr5:128072527-128072528	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs247180	chr5:128072544-128072545	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549266946	chr5:128072548-128072549	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs187339650	chr5:128072602-128072603	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs528046958	chr5:128072630-128072631	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143072298	chr5:128072654-128072655	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543622788	chr5:128072674-128072675	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563615463	chr5:128072783-128072784	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128056000-128056200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:128071400-128072600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:128071600-128071800	Enhancers	Brain Hippocampus Middle	brain
4	chr5:128071600-128072000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr5:128071600-128072200	Enhancers	Brain Anterior Caudate	brain
6	chr5:128071600-128072200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr5:128071600-128072400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:128071600-128072400	Enhancers	Brain Substantia Nigra	brain
9	chr5:128071600-128072800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:128071600-128073000	Enhancers	HMEC	breast
11	chr5:128071600-128073200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:128071600-128073800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:128071800-128072600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:128071800-128072800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:128071800-128073000	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr5:128071800-128073400	Enhancers	Brain Angular Gyrus	brain
17	chr5:128071800-128073400	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:128071800-128073800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:128072000-128072600	Enhancers	Fetal Lung	lung
20	chr5:128072000-128073400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:128072200-128072600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:128072200-128072600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:128072200-128072600	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr5:128072200-128072600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr5:128072200-128072600	Enhancers	NHEK	skin
26	chr5:128072200-128072800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr5:128072400-128072800	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr5:128072400-128072800	Enhancers	Stomach Smooth Muscle	stomach
29	chr5:128072400-128072800	Enhancers	NH-A	brain
30	chr5:128072600-128073800	Enhancers	Brain Anterior Caudate	brain
31	chr5:128072800-128073400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr5:128072800-128073800	Enhancers	Brain Substantia Nigra	brain
33	chr5:128073000-128073200	Enhancers	Brain Hippocampus Middle	brain
34	chr5:128083200-128083400	Enhancers	Colon Smooth Muscle	Colon
35	chr5:128083400-128084800	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:128084600-128084800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:128084600-128086400	Enhancers	Fetal Stomach	stomach
38	chr5:128084800-128085000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:128084800-128085800	Enhancers	Fetal Lung	lung
40	chr5:128084800-128086000	Enhancers	Colon Smooth Muscle	Colon
41	chr5:128084800-128086400	Enhancers	Fetal Muscle Leg	muscle
42	chr5:128085000-128085600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:128085000-128086400	Enhancers	Fetal Heart	heart
44	chr5:128085200-128085400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:128085200-128085400	Active TSS	Fetal Muscle Trunk	muscle
46	chr5:128085200-128085400	Enhancers	Stomach Smooth Muscle	stomach
47	chr5:128085200-128085800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:128085200-128085800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:128085400-128085600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:128085400-128085600	Flanking Active TSS	Fetal Muscle Trunk	muscle

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