Variant report

Variant	nsv882825
Chromosome Location	chr5:124836528-124877035
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: 1543 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1543 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs331769	chr5:124836528-124836529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549357183	chr5:124836540-124836541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567745504	chr5:124836613-124836614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151102711	chr5:124836635-124836636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192319505	chr5:124836653-124836654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs331768	chr5:124836662-124836663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78377380	chr5:124836670-124836671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559239203	chr5:124836673-124836674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376158147	chr5:124836690-124836691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115623802	chr5:124836765-124836766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113771820	chr5:124836799-124836800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111304912	chr5:124836816-124836817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556577831	chr5:124836836-124836837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548753859	chr5:124836846-124836847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190498527	chr5:124836857-124836858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79285584	chr5:124836865-124836866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs331767	chr5:124836880-124836881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572452780	chr5:124836902-124836903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80302450	chr5:124836937-124836938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182448912	chr5:124836987-124836988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531480371	chr5:124837016-124837017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148521599	chr5:124837030-124837031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187069248	chr5:124837084-124837085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371395661	chr5:124837091-124837092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536483433	chr5:124837095-124837096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189464210	chr5:124837220-124837221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528840258	chr5:124837232-124837233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547078263	chr5:124837249-124837250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs331766	chr5:124837293-124837294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs117357831	chr5:124837331-124837332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369792879	chr5:124837363-124837364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552786827	chr5:124837423-124837424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571086949	chr5:124837445-124837446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538465380	chr5:124837474-124837475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34240779	chr5:124837480-124837481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556863320	chr5:124837511-124837512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569614647	chr5:124837550-124837551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377667327	chr5:124837581-124837582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538231405	chr5:124837606-124837607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77307704	chr5:124837607-124837608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140986392	chr5:124837642-124837643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144681753	chr5:124837644-124837645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376267335	chr5:124837743-124837744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545928318	chr5:124837807-124837808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71803278	chr5:124837848-124837849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs398109390	chr5:124837850-124837851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564262396	chr5:124837857-124837858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555190741	chr5:124837943-124837944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141518542	chr5:124837959-124837960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565598974	chr5:124837962-124837963	Weak transcription Enhancers	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:162 , 50 per page) page: 1 2 3 4

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	chr5:124828000-124837000	Weak transcription	HSMM	muscle
4	chr5:124833000-124837800	Enhancers	Brain Cingulate Gyrus	brain
5	chr5:124833000-124837800	Enhancers	Brain Hippocampus Middle	brain
6	chr5:124834400-124837800	Enhancers	Brain Angular Gyrus	brain
7	chr5:124834400-124837800	Enhancers	Brain Germinal Matrix	brain
8	chr5:124834400-124838200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr5:124834400-124838200	Enhancers	Brain Substantia Nigra	brain
10	chr5:124835000-124837200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:124835000-124837800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:124835200-124837200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:124835400-124837600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:124835600-124837400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:124836000-124836800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:124836000-124837400	Weak transcription	HSMMtube	muscle
17	chr5:124836200-124837000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:124836200-124837400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:124836400-124837200	Weak transcription	Brain Anterior Caudate	brain
20	chr5:124836400-124837400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:124836800-124837800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:124837000-124837800	Enhancers	HSMM	muscle
23	chr5:124837200-124838200	Enhancers	Brain Anterior Caudate	brain
24	chr5:124837200-124840600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:124837400-124837600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:124837400-124838000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:124837400-124838000	Enhancers	HSMMtube	muscle
28	chr5:124837600-124837800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr5:124838000-124838200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:124839400-124840000	Enhancers	Stomach Mucosa	stomach
31	chr5:124843600-124843800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:124843800-124849400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:124845800-124846400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:124845800-124847000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:124846000-124846400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:124846000-124846400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:124846000-124846400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:124846000-124846600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:124846400-124851400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:124846400-124851800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:124846400-124852000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:124846600-124851600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:124851400-124852200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:124851600-124852000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:124851800-124853000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:124852000-124852400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr5:124852000-124853000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:124852000-124853400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:124852200-124853000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:124852200-124853200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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