Variant report

Variant	nsv435825
Chromosome Location	chr5:93978177-93984514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:93980538..93982514-chr5:93987987..93990202,2	MCF-7	breast:
2	chr5:93978811..93981676-chr5:93982231..93984096,2	K562	blood:
3	chr5:93983063..93985400-chr5:93988738..93990364,2	K562	blood:
4	chr5:93978811..93981676-chr5:93982231..93984096,2	K562	blood:
5	chr5:93977937..93979943-chr5:93986873..93988612,2	K562	blood:
6	chr5:93979164..93980988-chr5:93992577..93994431,2	MCF-7	breast:
7	chr5:93954423..93956135-chr5:93981636..93983140,2	MCF-7	breast:
8	chr5:93983063..93985415-chr5:93987503..93990364,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM81B-6	chr5:93978978-93979140	NONHSAT102829

No data

Extended variants
information (count: 249 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543636063	chr5:93978207-93978208	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148255529	chr5:93978235-93978236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550650138	chr5:93978244-93978245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578046261	chr5:93978291-93978292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569912158	chr5:93978442-93978443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566914580	chr5:93978448-93978449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111730417	chr5:93978474-93978475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558808431	chr5:93978485-93978486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11741410	chr5:93978517-93978518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369317971	chr5:93978538-93978539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529607308	chr5:93978632-93978633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183433556	chr5:93978649-93978650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554627216	chr5:93978671-93978672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563756911	chr5:93978738-93978739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549384165	chr5:93978745-93978746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543549588	chr5:93978782-93978783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113660032	chr5:93978785-93978786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572662995	chr5:93978821-93978822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559701005	chr5:93978830-93978831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150441750	chr5:93978850-93978851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559612222	chr5:93978851-93978852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186392781	chr5:93978895-93978896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542115165	chr5:93978906-93978907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561476803	chr5:93978935-93978936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116052021	chr5:93978949-93978950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117594749	chr5:93978951-93978952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191249349	chr5:93979057-93979058	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs532545128	chr5:93979156-93979157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551792040	chr5:93979165-93979166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201583364	chr5:93979178-93979179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571818614	chr5:93979191-93979192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116376172	chr5:93979215-93979216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377429615	chr5:93979218-93979219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182264833	chr5:93979224-93979225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138116368	chr5:93979294-93979295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186520186	chr5:93979342-93979343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3756470	chr5:93979347-93979348	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537490081	chr5:93979358-93979359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557471193	chr5:93979375-93979376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577386503	chr5:93979399-93979400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77331929	chr5:93979445-93979446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192635119	chr5:93979498-93979499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572995310	chr5:93979500-93979501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541752512	chr5:93979501-93979502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562054640	chr5:93979506-93979507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578001370	chr5:93979511-93979512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544908450	chr5:93979608-93979609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544222057	chr5:93979646-93979647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563760566	chr5:93979689-93979690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564806709	chr5:93979741-93979742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955000-93995400	Weak transcription	Gastric	stomach
2	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:93955800-93995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:93955800-94027600	Weak transcription	NH-A	brain
5	chr5:93956200-93993200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:93957800-93982400	Weak transcription	Psoas Muscle	Psoas
7	chr5:93963800-93995800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:93964600-93995200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:93965800-93988400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:93966600-93980000	Weak transcription	Left Ventricle	heart
11	chr5:93966600-93990800	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:93967200-93979600	Weak transcription	Brain Anterior Caudate	brain
13	chr5:93967400-93991400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:93967600-93979800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:93967600-93988200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:93967800-93978200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:93967800-93991000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:93968000-93990200	Weak transcription	Fetal Kidney	kidney
19	chr5:93968000-93995200	Weak transcription	HSMM	muscle
20	chr5:93969200-93978200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:93969400-94008400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:93971400-93995400	Weak transcription	Spleen	Spleen
23	chr5:93973200-93988400	Weak transcription	Fetal Brain Male	brain
24	chr5:93973400-93989800	Weak transcription	Brain Angular Gyrus	brain
25	chr5:93973800-93995200	Weak transcription	Lung	lung
26	chr5:93973800-94004200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:93974200-93995400	Weak transcription	Ovary	ovary
28	chr5:93974400-93995200	Weak transcription	Thymus	Thymus
29	chr5:93974600-93978200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr5:93974600-93993400	Strong transcription	Hela-S3	cervix
31	chr5:93975200-93988400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:93975400-93981600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:93975600-93979200	Strong transcription	Fetal Thymus	thymus
34	chr5:93975600-93979800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:93975600-93988400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:93975600-93990600	Weak transcription	Fetal Heart	heart
37	chr5:93975600-93990800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:93975600-93995200	Weak transcription	Esophagus	oesophagus
39	chr5:93975600-93995200	Weak transcription	Fetal Stomach	stomach
40	chr5:93975600-94012000	Weak transcription	Aorta	Aorta
41	chr5:93975800-93979800	Weak transcription	Adipose Nuclei	Adipose
42	chr5:93975800-93987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:93975800-93988400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:93975800-93989600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:93975800-93991000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr5:93975800-93993400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:93975800-93994000	Weak transcription	Small Intestine	intestine
48	chr5:93976000-93989400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:93976200-93988400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:93976600-93978400	Strong transcription	Fetal Lung	lung

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