Variant report

Variant	nsv933968
Chromosome Location	chr8:100430594-100444177
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:100433911..100436132-chr8:100443954..100446728,2	MCF-7	breast:
2	chr8:100433911..100436132-chr8:100443954..100446728,2	MCF-7	breast:
3	chr8:100440991..100443912-chr8:100444936..100447073,2	K562	blood:
4	chr8:100433051..100434745-chr9:90387715..90390439,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSR2-7	chr8:100441798-100441875	NONHSAT127953
2	lnc-OSR2-7	chr8:100443749-100443892	NONHSAT127953

No data

Variant related genes	Relation type
ENSG00000188029	chromatin interactions

Extended variants
information (count: 607 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574987201	chr8:100430664-100430665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149901158	chr8:100430665-100430666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557137648	chr8:100430679-100430680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370852368	chr8:100430684-100430685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113976497	chr8:100430705-100430706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576950182	chr8:100430708-100430709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545635596	chr8:100430719-100430720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546108304	chr8:100430722-100430723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184764639	chr8:100430726-100430727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572837201	chr8:100430730-100430731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541435062	chr8:100430734-100430735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71273183	chr8:100430740-100430741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548109675	chr8:100430743-100430744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372049688	chr8:100430744-100430745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373766111	chr8:100430747-100430748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367877731	chr8:100430752-100430753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13269008	chr8:100430754-100430755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368458000	chr8:100430756-100430757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146177891	chr8:100430759-100430760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113016912	chr8:100430769-100430770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372862053	chr8:100430776-100430777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530535864	chr8:100430777-100430778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370551254	chr8:100430781-100430782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550245542	chr8:100430808-100430809	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563933123	chr8:100430820-100430821	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539899325	chr8:100430822-100430823	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532593043	chr8:100430830-100430831	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559133908	chr8:100430842-100430843	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566250678	chr8:100430868-100430869	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535286197	chr8:100430884-100430885	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548627842	chr8:100430887-100430888	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528244478	chr8:100430901-100430902	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3105188	chr8:100430936-100430937	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs386728159	chr8:100430975-100430976	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3105189	chr8:100430977-100430978	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577016346	chr8:100430981-100430982	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188042611	chr8:100430991-100430992	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117772782	chr8:100431036-100431037	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550948569	chr8:100431053-100431054	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562343884	chr8:100431094-100431095	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572804042	chr8:100431102-100431103	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146432013	chr8:100431145-100431146	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571201784	chr8:100431160-100431161	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561380000	chr8:100431177-100431178	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553622458	chr8:100431184-100431185	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60608767	chr8:100431190-100431191	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs74493382	chr8:100431200-100431201	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533001275	chr8:100431207-100431208	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143528794	chr8:100431265-100431266	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540144517	chr8:100431376-100431377	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100384400-100437600	Weak transcription	Lung	lung
2	chr8:100393600-100445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:100395400-100432600	Weak transcription	Psoas Muscle	Psoas
4	chr8:100397800-100445000	Weak transcription	HSMM	muscle
5	chr8:100399800-100445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:100399800-100498400	Weak transcription	Thymus	Thymus
7	chr8:100404400-100430800	Weak transcription	Ovary	ovary
8	chr8:100404400-100441800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:100404400-100444600	Weak transcription	Placenta	Placenta
10	chr8:100416200-100445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:100419600-100463600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:100420800-100431000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:100420800-100441800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:100421000-100448400	Weak transcription	NH-A	brain
15	chr8:100421600-100472800	Weak transcription	Aorta	Aorta
16	chr8:100421800-100444400	Weak transcription	NHDF-Ad	bronchial
17	chr8:100425000-100442200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:100425000-100443800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:100425200-100443400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:100426000-100466200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:100426200-100435800	Weak transcription	Small Intestine	intestine
22	chr8:100426200-100441800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:100427000-100444800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:100427200-100444400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:100427400-100444400	Weak transcription	Adipose Nuclei	Adipose
26	chr8:100427400-100445000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:100427800-100436600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:100427800-100441600	Weak transcription	Primary B cells from cord blood	blood
29	chr8:100427800-100444600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:100428000-100433800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:100428200-100431000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:100428200-100435000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:100428200-100444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:100428400-100435200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:100428400-100444000	Weak transcription	Primary T cells from cord blood	blood
36	chr8:100428400-100445000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:100428600-100444600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:100428600-100456400	Weak transcription	Fetal Stomach	stomach
39	chr8:100428600-100466600	Weak transcription	Spleen	Spleen
40	chr8:100429000-100434000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:100429000-100437000	Weak transcription	Gastric	stomach
42	chr8:100429000-100443000	Weak transcription	Fetal Intestine Small	intestine
43	chr8:100429000-100445200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:100429200-100430800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:100429200-100434000	Weak transcription	Left Ventricle	heart
46	chr8:100429200-100434200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:100429400-100445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:100430000-100432000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr8:100430200-100430600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:100430400-100434000	Weak transcription	Fetal Heart	heart

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