Variant report

Variant	nsv599698
Chromosome Location	chr5:127744825-127850855
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:62270932..62271598-chr5:127779199..127780071,2	MCF-7	breast:
2	chr5:127833988..127834810-chr5:128179744..128180636,2	MCF-7	breast:
3	chr5:127759519..127761302-chr5:127762913..127765694,2	MCF-7	breast:
4	chr5:127836111..127838712-chr5:127840672..127842489,2	K562	blood:
5	chr5:127818462..127820464-chr5:127829462..127831068,2	K562	blood:
6	chr5:59278322..59278840-chr5:127773622..127774137,2	MCF-7	breast:
7	chr5:127836111..127838712-chr5:127840672..127842489,2	K562	blood:
8	chr5:127536790..127537566-chr5:127834284..127834940,2	MCF-7	breast:
9	chr5:127818462..127820464-chr5:127829462..127831068,2	K562	blood:
10	chr5:127759519..127761302-chr5:127762913..127765694,2	MCF-7	breast:
11	chr5:127548634..127549618-chr5:127834133..127835328,8	MCF-7	breast:
12	chr5:127549084..127549689-chr5:127834386..127835205,3	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FBN2	hsa-miR-92b-3p	chr5:127777876-127777897

Extended variants
information (count: 3799 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3799 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3805648	chr5:127744825-127744826	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568412138	chr5:127744842-127744843	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534179230	chr5:127744863-127744864	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183424240	chr5:127744905-127744906	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577629844	chr5:127744917-127744918	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148542015	chr5:127744966-127744967	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115999707	chr5:127744983-127744984	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576566921	chr5:127744984-127744985	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533630545	chr5:127745011-127745012	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561016564	chr5:127745061-127745062	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529689324	chr5:127745094-127745095	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539856323	chr5:127745146-127745147	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3805649	chr5:127745170-127745171	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377408336	chr5:127745265-127745266	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559691347	chr5:127745275-127745276	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116272622	chr5:127745340-127745341	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142864882	chr5:127745349-127745350	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187576933	chr5:127745401-127745402	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531533328	chr5:127745439-127745440	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548424936	chr5:127745490-127745491	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192518254	chr5:127745529-127745530	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534005620	chr5:127745540-127745541	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554209507	chr5:127745579-127745580	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570816510	chr5:127745608-127745609	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540174555	chr5:127745615-127745616	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556890004	chr5:127745646-127745647	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547911930	chr5:127745671-127745672	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370474549	chr5:127745701-127745702	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151048157	chr5:127745721-127745722	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57502619	chr5:127745725-127745726	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115438927	chr5:127745766-127745767	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539894583	chr5:127745768-127745769	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559726049	chr5:127745847-127745848	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576422645	chr5:127745880-127745881	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545739814	chr5:127745949-127745950	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10063393	chr5:127745955-127745956	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs3805650	chr5:127745966-127745967	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564631520	chr5:127746005-127746006	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142343098	chr5:127746030-127746031	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184419098	chr5:127746045-127746046	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34180149	chr5:127746049-127746050	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533624196	chr5:127746069-127746070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527793078	chr5:127746129-127746130	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546920877	chr5:127746146-127746147	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115140090	chr5:127746268-127746269	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535837893	chr5:127746299-127746300	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144576760	chr5:127746333-127746334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549153046	chr5:127746393-127746394	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6882176	chr5:127746434-127746435	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs72785132	chr5:127746484-127746485	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Acute lymphoblastic leukemia	22237106	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:872 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:127726000-127745000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:127731400-127747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:127736400-127745000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
7	chr5:127739400-127759800	Weak transcription	Fetal Lung	lung
8	chr5:127740800-127759600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:127741000-127751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:127742600-127745800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:127742600-127746000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:127743000-127745600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:127743000-127745600	Weak transcription	NHLF	lung
14	chr5:127743000-127749200	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:127743000-127760400	Weak transcription	A549	lung
16	chr5:127743200-127746800	Weak transcription	Fetal Stomach	stomach
17	chr5:127743400-127771800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:127743800-127745600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:127743800-127746000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:127744200-127745200	Enhancers	Right Ventricle	heart
21	chr5:127744200-127745400	Enhancers	Fetal Brain Male	brain
22	chr5:127744200-127746000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:127744200-127746000	Enhancers	NH-A	brain
24	chr5:127744200-127746400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:127744400-127745400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:127744400-127745600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:127744400-127746000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:127744400-127746000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:127744400-127746800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:127744400-127746800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:127744400-127746800	Enhancers	Fetal Heart	heart
32	chr5:127744400-127746800	Weak transcription	Placenta	Placenta
33	chr5:127744400-127747200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:127744400-127762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:127744600-127745000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:127744600-127745000	Weak transcription	HMEC	breast
37	chr5:127744600-127745600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:127744600-127745600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:127744600-127746200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:127744600-127746600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:127744600-127746800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:127744600-127747000	Enhancers	NHEK	skin
43	chr5:127744800-127745200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr5:127744800-127745400	Enhancers	Fetal Kidney	kidney
45	chr5:127744800-127745800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:127744800-127746000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:127744800-127746200	Enhancers	HUVEC	blood vessel
48	chr5:127745000-127745200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:127745000-127746000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:127745000-127746000	Enhancers	Hela-S3	cervix

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