Variant report

Variant	nsv882826
Chromosome Location	chr5:124840910-124875058
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	chr5:124855835..124858574-chr5:124862134..124863991,2	K562	blood:
2	chr5:124855835..124858574-chr5:124862134..124863991,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRAMD3-2	chr5:124855221-124855288	NONHSAT103560
2	lnc-GRAMD3-2	chr5:124855221-124855288	ENSG00000260192.1

Extended variants
information (count: 1340 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1340 , 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	rs6880987	chr5:124840910-124840911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79189512	chr5:124840955-124840956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77875687	chr5:124840966-124840967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535160201	chr5:124841009-124841010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546801228	chr5:124841040-124841041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148758507	chr5:124841064-124841065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538860024	chr5:124841072-124841073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555399505	chr5:124841076-124841077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557251106	chr5:124841103-124841104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144848150	chr5:124841158-124841159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535868073	chr5:124841159-124841160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114677007	chr5:124841165-124841166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572833486	chr5:124841171-124841172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374489688	chr5:124841180-124841181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539965088	chr5:124841187-124841188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564658239	chr5:124841231-124841232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577778711	chr5:124841241-124841242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191704692	chr5:124841271-124841272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563595027	chr5:124841272-124841273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147898514	chr5:124841281-124841282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369890217	chr5:124841342-124841343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549102051	chr5:124841359-124841360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs331762	chr5:124841410-124841411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528556521	chr5:124841453-124841454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557127461	chr5:124841454-124841455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570808890	chr5:124841489-124841490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539971166	chr5:124841521-124841522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571786021	chr5:124841568-124841569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116811505	chr5:124841588-124841589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184031454	chr5:124841591-124841592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74690732	chr5:124841626-124841627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536582329	chr5:124841682-124841683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79523173	chr5:124841699-124841700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557321967	chr5:124841705-124841706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190323077	chr5:124841706-124841707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs331761	chr5:124841733-124841734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs331760	chr5:124841760-124841761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115527294	chr5:124841764-124841765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576025780	chr5:124841792-124841793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192808700	chr5:124841841-124841842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557574737	chr5:124841865-124841866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372264570	chr5:124841866-124841867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543334327	chr5:124841924-124841925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561446054	chr5:124841929-124841930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369600186	chr5:124841958-124841959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544441327	chr5:124841974-124841975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528462673	chr5:124841982-124841983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573346699	chr5:124842029-124842030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150432896	chr5:124842053-124842054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185719196	chr5:124842065-124842066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	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
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124823400-124860400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124827800-124843600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:124843600-124843800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:124843800-124849400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:124845800-124846400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:124845800-124847000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:124846000-124846400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:124846000-124846400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:124846000-124846400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:124846000-124846600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:124846400-124851400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:124846400-124851800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:124846400-124852000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:124846600-124851600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:124851400-124852200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:124851600-124852000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:124851800-124853000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:124852000-124852400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:124852000-124853000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:124852000-124853400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:124852200-124853000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:124852200-124853200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:124852400-124853000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr5:124852400-124853200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:124852600-124853000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr5:124853000-124853400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:124853400-124853600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:124853600-124854000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:124853800-124854800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:124854000-124854600	Enhancers	Fetal Intestine Large	intestine
31	chr5:124857600-124857800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:124857800-124863200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:124860000-124862800	Weak transcription	Right Atrium	heart
34	chr5:124860400-124861400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:124860600-124861000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:124860600-124861600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:124860800-124861000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:124861000-124861400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:124861000-124861800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:124861200-124861400	Enhancers	HMEC	breast
41	chr5:124861200-124861400	Enhancers	HSMMtube	muscle
42	chr5:124861200-124861400	Enhancers	NHEK	skin
43	chr5:124861400-124862400	Weak transcription	HMEC	breast
44	chr5:124861400-124862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:124861400-124871800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:124861600-124862600	Weak transcription	HSMMtube	muscle
47	chr5:124861600-124862600	Weak transcription	NHEK	skin
48	chr5:124861600-124862800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:124861800-124863400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:124862400-124863200	Enhancers	Skeletal Muscle Male	skeletal muscle

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