Variant report

Variant	esv2762758
Chromosome Location	chr8:89013301-89033922
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:10)
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	chr8:89017125..89019742-chr8:89023197..89026619,3	MCF-7	breast:
2	chr8:89026745..89030002-chr8:89030399..89034596,3	K562	blood:
3	chr8:89030805..89033293-chr8:89047239..89049566,2	K562	blood:
4	chr8:89032654..89035413-chr8:89038300..89039860,2	K562	blood:
5	chr8:88985373..88987711-chr8:89022271..89025023,2	MCF-7	breast:
6	chr8:89018606..89019180-chr8:89440797..89441298,2	MCF-7	breast:
7	chr8:89017125..89019742-chr8:89023197..89026619,3	MCF-7	breast:
8	chr8:89026745..89030002-chr8:89030399..89034596,3	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNBD1-3	chr8:89024312-89024429	ENSG00000253171.1
2	lnc-CNBD1-3	chr8:89031284-89031341	ENSG00000253171.1
3	lnc-CNBD1-3	chr8:89022371-89022434	ENSG00000253171.1
4	lnc-CNBD1-3	chr8:89015955-89016031	NONHSAT127586
5	lnc-CNBD1-3	chr8:89022371-89022434	NONHSAT127586
6	lnc-CNBD1-3	chr8:89022745-89022931	ENSG00000253171.1
7	lnc-CNBD1-3	chr8:89022745-89022931	NONHSAT127586
8	lnc-CNBD1-3	chr8:89031284-89031341	NONHSAT127586
9	lnc-CNBD1-3	chr8:89023710-89024642	NONHSAT127586
10	lnc-CNBD1-3	chr8:89015955-89016031	ENSG00000253171.1

No data

Variant related genes	Relation type
ENSG00000253171	chromatin interactions

Extended variants
information (count: 706 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17646041	chr8:89013301-89013302	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181075281	chr8:89013308-89013309	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs554222195	chr8:89013317-89013318	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549755907	chr8:89013356-89013357	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543343783	chr8:89013367-89013368	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs558836888	chr8:89013386-89013387	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs17646059	chr8:89013409-89013410	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs370886542	chr8:89013425-89013426	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541573828	chr8:89013451-89013452	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559903930	chr8:89013457-89013458	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548034975	chr8:89013463-89013464	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530111483	chr8:89013489-89013490	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559555888	chr8:89013509-89013510	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186511470	chr8:89013511-89013512	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563491468	chr8:89013525-89013526	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562038016	chr8:89013558-89013559	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531274897	chr8:89013588-89013589	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556489283	chr8:89013628-89013629	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552446265	chr8:89013648-89013649	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189631277	chr8:89013677-89013678	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551628037	chr8:89013731-89013732	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528644956	chr8:89013741-89013742	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532414345	chr8:89013744-89013745	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181613943	chr8:89013760-89013761	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58120058	chr8:89013783-89013784	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35909921	chr8:89013813-89013814	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372032635	chr8:89013882-89013883	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113251238	chr8:89013912-89013913	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539185794	chr8:89013927-89013928	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144460623	chr8:89013961-89013962	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557426804	chr8:89013962-89013963	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186858359	chr8:89014001-89014002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146614089	chr8:89014024-89014025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569548439	chr8:89014168-89014169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537381641	chr8:89014183-89014184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190761291	chr8:89014221-89014222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183187043	chr8:89014293-89014294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541251869	chr8:89014389-89014390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141331726	chr8:89014394-89014395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112720408	chr8:89014420-89014421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574883032	chr8:89014445-89014446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2664363	chr8:89014455-89014456	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372830392	chr8:89014528-89014529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186379569	chr8:89014574-89014575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575527444	chr8:89014605-89014606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546121069	chr8:89014608-89014609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565859211	chr8:89014643-89014644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374474195	chr8:89014647-89014648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541582556	chr8:89014650-89014651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114485517	chr8:89014671-89014672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Acute lymphoblastic leukemia	18458336	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
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89012200-89014800	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:89012800-89013400	Active TSS	Aorta	Aorta
3	chr8:89012800-89013400	Active TSS	Brain Hippocampus Middle	brain
4	chr8:89012800-89013400	Active TSS	Brain Substantia Nigra	brain
5	chr8:89012800-89013400	Active TSS	Right Atrium	heart
6	chr8:89012800-89013600	Active TSS	Brain Anterior Caudate	brain
7	chr8:89012800-89013600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr8:89012800-89013600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr8:89012800-89013600	Enhancers	NH-A	brain
10	chr8:89012800-89013800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:89012800-89013800	Flanking Active TSS	HUVEC	blood vessel
12	chr8:89012800-89014800	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:89013000-89013400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:89013000-89013400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:89013000-89013400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr8:89013000-89013400	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr8:89013000-89013400	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:89013000-89013400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:89013000-89013600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:89013000-89013600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:89013000-89013600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr8:89013000-89013800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:89013000-89014000	Enhancers	Fetal Kidney	kidney
24	chr8:89013200-89013400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:89013200-89013400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:89013200-89013400	Flanking Active TSS	Osteobl	bone
27	chr8:89013200-89013600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:89013200-89013600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:89013200-89013600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:89013200-89013600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:89013200-89013600	Enhancers	Adipose Nuclei	Adipose
32	chr8:89013200-89014000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr8:89013400-89013600	Enhancers	Brain Angular Gyrus	brain
34	chr8:89013400-89013600	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr8:89013400-89013600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr8:89013400-89013600	Active TSS	Osteobl	bone
37	chr8:89013400-89014200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:89013400-89014800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:89013400-89014800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:89013400-89017200	Weak transcription	Aorta	Aorta
41	chr8:89013600-89013800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:89013600-89013800	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr8:89013600-89014000	Enhancers	Brain Hippocampus Middle	brain
44	chr8:89013600-89014000	Enhancers	Brain Substantia Nigra	brain
45	chr8:89013600-89014000	Enhancers	Osteobl	bone
46	chr8:89013600-89014200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:89013600-89015000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:89013600-89018800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:89013800-89014600	Enhancers	HUVEC	blood vessel
50	chr8:89013800-89014800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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