Variant report

Variant	nsv4986
Chromosome Location	chr5:124899753-124944916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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: 1840 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1840 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190395967	chr5:124899754-124899755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376669092	chr5:124899770-124899771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556000323	chr5:124899854-124899855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77389966	chr5:124899855-124899856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537318613	chr5:124899857-124899858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138250073	chr5:124899895-124899896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13157101	chr5:124899940-124899941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs377570592	chr5:124900123-124900124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533393242	chr5:124900124-124900125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149619108	chr5:124900127-124900128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs331720	chr5:124900178-124900179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530910454	chr5:124900185-124900186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs331721	chr5:124900197-124900198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs560787107	chr5:124900201-124900202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549062520	chr5:124900250-124900251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528365023	chr5:124900262-124900263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377350179	chr5:124900268-124900269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546517112	chr5:124900285-124900286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183910066	chr5:124900316-124900317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531283454	chr5:124900369-124900370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143275394	chr5:124900386-124900387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75443188	chr5:124900388-124900389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72786806	chr5:124900391-124900392	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555987977	chr5:124900397-124900398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17152945	chr5:124900398-124900399	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535317384	chr5:124900431-124900432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542368523	chr5:124900432-124900433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188903974	chr5:124900442-124900443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534124662	chr5:124900508-124900509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557305652	chr5:124900541-124900542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578200406	chr5:124900551-124900552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553671256	chr5:124900552-124900553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577534149	chr5:124900598-124900599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567421853	chr5:124900626-124900627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192489159	chr5:124900636-124900637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563541260	chr5:124900650-124900651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115102042	chr5:124900691-124900692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542757902	chr5:124900700-124900701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560726554	chr5:124900710-124900711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536984453	chr5:124900735-124900736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78891175	chr5:124900780-124900781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76359377	chr5:124900867-124900868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182841929	chr5:124900870-124900871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188094881	chr5:124900918-124900919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141938166	chr5:124900923-124900924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62373412	chr5:124900931-124900932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs62373413	chr5:124900940-124900941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533125110	chr5:124900951-124900952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567847558	chr5:124901073-124901074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535198146	chr5:124901116-124901117	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:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124895800-124908400	Weak transcription	Fetal Heart	heart
2	chr5:124900200-124900600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:124900400-124900600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:124902800-124904200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr5:124903200-124904000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:124903400-124904200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr5:124903600-124903800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:124903800-124904000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:124904000-124909000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:124904200-124909800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:124904200-124910200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:124908400-124912000	Enhancers	Fetal Heart	heart
13	chr5:124908600-124908800	Enhancers	Brain Angular Gyrus	brain
14	chr5:124908600-124908800	Enhancers	Brain Hippocampus Middle	brain
15	chr5:124908600-124908800	Enhancers	Fetal Lung	lung
16	chr5:124908600-124909000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:124908600-124909200	Enhancers	Brain Anterior Caudate	brain
18	chr5:124908600-124911400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:124908600-124911400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:124908600-124911400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:124908800-124909000	Enhancers	Fetal Muscle Leg	muscle
22	chr5:124908800-124909200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:124908800-124909600	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:124908800-124912200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:124908800-124912800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:124908800-124914800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:124909000-124909600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:124909000-124910200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:124909000-124910400	Weak transcription	Fetal Lung	lung
30	chr5:124909000-124911600	Enhancers	Brain Germinal Matrix	brain
31	chr5:124909200-124909400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:124909200-124910200	Weak transcription	Brain Anterior Caudate	brain
33	chr5:124909200-124910200	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:124909200-124910400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:124909200-124911400	Enhancers	Brain Cingulate Gyrus	brain
36	chr5:124909200-124912800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:124909200-124912800	Enhancers	Brain Substantia Nigra	brain
38	chr5:124909400-124909600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:124909400-124910000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:124909600-124909800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:124909600-124911400	Enhancers	Brain Hippocampus Middle	brain
42	chr5:124909600-124911600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:124909600-124911800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:124909800-124911600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:124909800-124912200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:124910000-124912200	Enhancers	Fetal Brain Male	brain
47	chr5:124910000-124912800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:124910200-124910400	Enhancers	HSMMtube	muscle
49	chr5:124910200-124910800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr5:124910200-124912800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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