Variant report

Variant	nsv610270
Chromosome Location	chr8:10418039-10444137
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:11)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10421361..10423280-chr8:10424312..10426014,2	MCF-7	breast:
2	chr8:10421700..10424416-chr8:10707916..10710717,2	K562	blood:
3	chr8:10437716..10439367-chr8:10443929..10446771,2	K562	blood:
4	chr8:10437716..10439367-chr8:10443929..10446771,2	K562	blood:
5	chr8:10425403..10427054-chr8:10442096..10444201,2	K562	blood:
6	chr8:10442817..10445019-chr8:10695179..10696964,2	MCF-7	breast:
7	chr8:10421361..10423280-chr8:10424312..10426014,2	MCF-7	breast:
8	chr8:10425403..10427054-chr8:10442096..10444201,2	K562	blood:
9	chr8:10442713..10444669-chr8:10687154..10689359,2	K562	blood:
10	chr8:10437286..10440018-chr8:10695895..10698105,2	K562	blood:
11	chr8:10443749..10446739-chr8:10451129..10452843,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRSS55-2	chr8:10417991-10418798	NONHSAT125007
2	lnc-RP1L1-6	chr8:10442350-10442505	ucscGeneNc_uc010lru_1
3	lnc-RP1L1-1	chr8:10436958-10436997	NONHSAT125009
4	lnc-RP1L1-1	chr8:10436255-10436957	XLOC_007004
5	lnc-RP1L1-1	chr8:10436228-10436805	NONHSAT125009
6	lnc-RP1L1-1	chr8:10438163-10438247	XLOC_007004

No data

Variant related genes	Relation type
ENSG00000253695	chromatin interactions
ENSG00000254093	chromatin interactions
ENSG00000258724	chromatin interactions
DCTN5	miRNA target sites
FAM102A	miRNA target sites

Extended variants
information (count: 1765 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:1765 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4841380	chr8:10418039-10418040	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556706995	chr8:10418070-10418071	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs145913296	chr8:10418085-10418086	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs542273120	chr8:10418117-10418118	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs559024265	chr8:10418157-10418158	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs528070789	chr8:10418178-10418179	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs372512798	chr8:10418194-10418195	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs369100822	chr8:10418198-10418199	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs9692783	chr8:10418209-10418210	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs9693696	chr8:10418216-10418217	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557386042	chr8:10418217-10418218	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs4841381	chr8:10418221-10418222	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs550229169	chr8:10418232-10418233	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs570229439	chr8:10418239-10418240	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs529522961	chr8:10418246-10418247	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs546301066	chr8:10418306-10418307	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs553396362	chr8:10418323-10418324	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs138832228	chr8:10418330-10418331	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs566226491	chr8:10418349-10418350	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs568782777	chr8:10418373-10418374	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs34491826	chr8:10418377-10418378	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs142890934	chr8:10418379-10418380	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs117926925	chr8:10418391-10418392	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs571571246	chr8:10418395-10418396	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs112448563	chr8:10418411-10418412	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs4840491	chr8:10418419-10418420	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556845614	chr8:10418436-10418437	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs62492838	chr8:10418483-10418484	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147441735	chr8:10418513-10418514	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs139244769	chr8:10418540-10418541	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs572927197	chr8:10418567-10418568	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs79804250	chr8:10418578-10418579	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs73195192	chr8:10418614-10418615	Enhancers Bivalent Enhancer Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372798785	chr8:10418624-10418625	Enhancers Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs544088933	chr8:10418645-10418646	Enhancers Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs117813139	chr8:10418649-10418650	Enhancers Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs186675960	chr8:10418658-10418659	Enhancers Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs149569669	chr8:10418674-10418675	Enhancers Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs372582990	chr8:10418708-10418709	Enhancers Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs112035721	chr8:10418721-10418722	Enhancers Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs559873123	chr8:10418733-10418734	Enhancers Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs528616800	chr8:10418781-10418782	Enhancers Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs571352440	chr8:10418787-10418788	Enhancers Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs546395417	chr8:10418806-10418807	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373860479	chr8:10418809-10418810	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551597637	chr8:10418810-10418811	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116591758	chr8:10418811-10418812	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191521503	chr8:10418834-10418835	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138633756	chr8:10418835-10418836	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550456202	chr8:10418850-10418851	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10404800-10422000	Weak transcription	Right Atrium	heart
2	chr8:10415200-10423200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:10417800-10418800	Enhancers	Placenta	Placenta
4	chr8:10417800-10420200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr8:10418000-10418200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:10418600-10419200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:10418600-10419200	Enhancers	Brain Hippocampus Middle	brain
8	chr8:10418800-10419000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:10418800-10419400	Bivalent Enhancer	Placenta	Placenta
10	chr8:10418800-10419800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:10419000-10419200	Enhancers	Brain Substantia Nigra	brain
12	chr8:10419000-10419800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:10419200-10419400	Enhancers	Brain Cingulate Gyrus	brain
14	chr8:10419600-10420600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr8:10419800-10420200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:10419800-10420400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:10419800-10422000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:10419800-10422200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:10419800-10422400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:10420000-10420600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr8:10420000-10421800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr8:10420000-10422400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:10420200-10420600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:10420200-10422200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:10420200-10422400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:10420400-10421000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:10420400-10422000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr8:10420400-10422400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr8:10420400-10422400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:10420400-10423000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:10420600-10421000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr8:10420600-10421200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:10420600-10421800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:10420800-10421000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:10420800-10421000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:10420800-10421200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr8:10420800-10422000	Enhancers	Left Ventricle	heart
38	chr8:10420800-10422200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:10420800-10422200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:10420800-10422200	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr8:10420800-10422200	Bivalent Enhancer	Fetal Stomach	stomach
42	chr8:10420800-10423200	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr8:10420800-10424600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr8:10421000-10421200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr8:10421000-10421200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
46	chr8:10421000-10421200	Bivalent Enhancer	Fetal Intestine Large	intestine
47	chr8:10421000-10421800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:10421000-10421800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:10421000-10421800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
50	chr8:10421000-10422000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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