Variant report

Variant	nsv882828
Chromosome Location	chr5:124867823-124958205
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	chr5:124893901..124896559-chr5:124897191..124899383,2	MCF-7	breast:
2	chr5:124893901..124896559-chr5:124897191..124899383,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRAMD3-2	chr5:124936909-124937937	NONHSAT103560
2	lnc-GRAMD3-2	chr5:124936909-124937920	ENSG00000260192.1

Extended variants
information (count: 3226 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3226 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10037999	chr5:124867823-124867824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs59771425	chr5:124867947-124867948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115018315	chr5:124868046-124868047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371335494	chr5:124868065-124868066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144256928	chr5:124868122-124868123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562653259	chr5:124868145-124868146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530993735	chr5:124868148-124868149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374496205	chr5:124868204-124868205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368433101	chr5:124868227-124868228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577327726	chr5:124868233-124868234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150747355	chr5:124868266-124868267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185280176	chr5:124868272-124868273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546077119	chr5:124868287-124868288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571627000	chr5:124868301-124868302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539074979	chr5:124868313-124868314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572860140	chr5:124868338-124868339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559936942	chr5:124868350-124868351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188898238	chr5:124868351-124868352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536040188	chr5:124868355-124868356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7709191	chr5:124868392-124868393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572721363	chr5:124868395-124868396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540088967	chr5:124868457-124868458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564878312	chr5:124868516-124868517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193239176	chr5:124868539-124868540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544226069	chr5:124868568-124868569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562430632	chr5:124868584-124868585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11742247	chr5:124868626-124868627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548002512	chr5:124868628-124868629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184579979	chr5:124868648-124868649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577471784	chr5:124868654-124868655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562031720	chr5:124868668-124868669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62373384	chr5:124868675-124868676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs114520659	chr5:124868688-124868689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539012826	chr5:124868705-124868706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550987218	chr5:124868719-124868720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11748806	chr5:124868760-124868761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs62373385	chr5:124868770-124868771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188240766	chr5:124868799-124868800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149015285	chr5:124868833-124868834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533785636	chr5:124868880-124868881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180684690	chr5:124868881-124868882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184131111	chr5:124868884-124868885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544195803	chr5:124868890-124868891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112540589	chr5:124868934-124868935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574353381	chr5:124868958-124868959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34944353	chr5:124868986-124868987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35220080	chr5:124868989-124868990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540450125	chr5:124869008-124869009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35317837	chr5:124869021-124869022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541870126	chr5:124869031-124869032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124861400-124871800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124863800-124870400	Weak transcription	Fetal Heart	heart
3	chr5:124871000-124872400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:124871200-124871800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:124871400-124872000	Weak transcription	HSMMtube	muscle
6	chr5:124871600-124873400	Enhancers	Dnd41	blood
7	chr5:124871800-124872200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:124871800-124872200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:124871800-124872400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:124871800-124872400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:124871800-124872400	Enhancers	HMEC	breast
12	chr5:124871800-124872400	Enhancers	NH-A	brain
13	chr5:124871800-124872600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:124871800-124873000	Enhancers	NHEK	skin
15	chr5:124871800-124873200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:124872000-124872400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:124872000-124872400	Enhancers	Stomach Mucosa	stomach
18	chr5:124872000-124872400	Enhancers	HSMM	muscle
19	chr5:124872000-124872400	Enhancers	NHDF-Ad	bronchial
20	chr5:124872000-124872600	Enhancers	HSMMtube	muscle
21	chr5:124872000-124872600	Enhancers	Osteobl	bone
22	chr5:124872000-124873400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:124872000-124873400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:124872000-124885200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:124872200-124873800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:124872400-124873000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:124872400-124873600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:124872600-124873200	Weak transcription	HSMMtube	muscle
29	chr5:124872600-124873200	Weak transcription	Osteobl	bone
30	chr5:124873000-124873400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:124873200-124873400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:124873200-124873400	Enhancers	HSMMtube	muscle
33	chr5:124873200-124873400	Enhancers	Osteobl	bone
34	chr5:124873600-124873800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:124873600-124875000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:124873800-124874400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:124874400-124885000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:124876400-124876800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:124876600-124876800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:124876600-124877000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:124876600-124877000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:124876800-124885000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:124876800-124885200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:124883000-124883400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:124883200-124887600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:124883400-124885200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:124884000-124884200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:124884200-124886200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:124884200-124886400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:124884200-124886800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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