Variant report

Variant	nsv982142
Chromosome Location	chr8:117857769-117860673
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:117854712..117858080-chr8:117883055..117888027,5	K562	blood:
2	chr8:117855745..117858425-chr8:117866524..117868307,3	K562	blood:
3	chr8:117854618..117858375-chr8:117860492..117864131,4	K562	blood:
4	chr8:117848684..117853710-chr8:117854068..117860611,8	K562	blood:
5	chr8:117847223..117849711-chr8:117856512..117859116,2	MCF-7	breast:
6	chr8:117855246..117857317-chr8:117857699..117859236,2	MCF-7	breast:
7	chr8:117855517..117858008-chr8:117880240..117882467,2	K562	blood:
8	chr8:117857607..117860460-chr8:117874420..117876566,2	MCF-7	breast:
9	chr8:117853348..117856014-chr8:117857565..117859275,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RAD21	hsa-miR-215-5p	chr8:117858298-117858318
2	RAD21	hsa-miR-192-5p	chr8:117858298-117858318

Variant related genes	Relation type
ENSG00000164754	chromatin interactions
ENSG00000264875	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544930066	chr8:117857815-117857816	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs139262602	chr8:117857840-117857841	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs6989717	chr8:117857906-117857907	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79164772	chr8:117857947-117857948	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs117968214	chr8:117857954-117857955	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76677107	chr8:117858086-117858087	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369852952	chr8:117858165-117858166	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs17297063	chr8:117858187-117858188	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143808293	chr8:117858212-117858213	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11548731	chr8:117858240-117858241	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565288261	chr8:117858251-117858252	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532849202	chr8:117858252-117858253	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11548728	chr8:117858257-117858258	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs14795	chr8:117858350-117858351	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4570	chr8:117858389-117858390	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs530012356	chr8:117858420-117858421	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369156581	chr8:117858421-117858422	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3020109	chr8:117858445-117858446	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569801965	chr8:117858500-117858501	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112003989	chr8:117858509-117858510	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189612341	chr8:117858533-117858534	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556329240	chr8:117858541-117858542	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1804044	chr8:117858572-117858573	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73703417	chr8:117858606-117858607	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375417327	chr8:117858607-117858608	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60286027	chr8:117858608-117858609	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571316356	chr8:117858615-117858616	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538942211	chr8:117858631-117858632	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553756682	chr8:117858724-117858725	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572035976	chr8:117858726-117858727	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377199308	chr8:117858728-117858729	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554745710	chr8:117858729-117858730	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113836837	chr8:117858732-117858733	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35014725	chr8:117858738-117858739	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2434	chr8:117858743-117858744	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77455572	chr8:117858749-117858750	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200817314	chr8:117858750-117858751	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370532782	chr8:117858751-117858752	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543501292	chr8:117858769-117858770	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370546824	chr8:117858772-117858773	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576892676	chr8:117858785-117858786	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73310206	chr8:117858814-117858815	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548022988	chr8:117858832-117858833	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545914200	chr8:117858899-117858900	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541737011	chr8:117858919-117858920	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138170833	chr8:117858937-117858938	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16918290	chr8:117858943-117858944	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374261723	chr8:117858966-117858967	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs15527	chr8:117859059-117859060	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559778063	chr8:117859092-117859093	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:133)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117840800-117859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:117848200-117858600	Weak transcription	HepG2	liver
3	chr8:117848400-117863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:117850000-117859600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:117850800-117858200	Weak transcription	Primary B cells from cord blood	blood
6	chr8:117850800-117858800	Weak transcription	Ovary	ovary
7	chr8:117852000-117859000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:117852400-117859200	Weak transcription	Fetal Heart	heart
9	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
10	chr8:117852600-117857800	Weak transcription	HMEC	breast
11	chr8:117852600-117858000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:117852600-117859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:117852800-117860800	Weak transcription	Small Intestine	intestine
14	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:117853200-117858400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:117853400-117859000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:117853400-117859000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:117853400-117860000	Weak transcription	Esophagus	oesophagus
19	chr8:117853600-117858800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:117853600-117858800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:117853800-117858600	Weak transcription	NHEK	skin
22	chr8:117853800-117858800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:117854000-117858000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:117854000-117858600	Weak transcription	Fetal Lung	lung
25	chr8:117854200-117858600	Weak transcription	NHDF-Ad	bronchial
26	chr8:117854400-117859600	Weak transcription	Aorta	Aorta
27	chr8:117854600-117858400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:117854600-117858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:117854800-117859200	Weak transcription	Brain Substantia Nigra	brain
30	chr8:117854800-117859600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:117854800-117863800	Weak transcription	Gastric	stomach
32	chr8:117854800-117875000	Strong transcription	Dnd41	blood
33	chr8:117855000-117858600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:117855000-117858800	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:117855000-117859200	Weak transcription	Brain Angular Gyrus	brain
36	chr8:117855000-117859800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:117855000-117859800	Weak transcription	Spleen	Spleen
38	chr8:117855000-117860000	Weak transcription	Pancreas	Pancrea
39	chr8:117855200-117861600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:117855200-117870400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:117855400-117857800	Strong transcription	Brain Hippocampus Middle	brain
42	chr8:117855400-117872800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr8:117855600-117858000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:117855800-117859000	Weak transcription	K562	blood
45	chr8:117856000-117857800	Strong transcription	Fetal Stomach	stomach
46	chr8:117856000-117858800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:117856000-117858800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:117856000-117858800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:117856000-117860400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:117856000-117870600	Strong transcription	Rectal Mucosa Donor 31	rectum

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