Variant report

Variant	nsv611834
Chromosome Location	chr8:105016866-105140610
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105102613..105105589-chr8:105106211..105108710,2	MCF-7	breast:
2	chr7:104653295..104654961-chr8:105016847..105019762,2	MCF-7	breast:
3	chr21:43298446..43300680-chr8:105016509..105018812,2	MCF-7	breast:
4	chr8:105017671..105019829-chr8:105023153..105025730,2	K562	blood:
5	chr8:105133539..105135724-chr8:105136660..105138373,2	MCF-7	breast:
6	chr8:105102613..105105589-chr8:105106211..105108710,2	MCF-7	breast:
7	chr8:105138025..105140468-chr8:105142058..105143910,2	K562	blood:
8	chr8:105133539..105135724-chr8:105136660..105138373,2	MCF-7	breast:
9	chr8:105120104..105122651-chr8:105125459..105127123,2	K562	blood:
10	chr8:105120104..105122651-chr8:105125459..105127123,2	K562	blood:
11	chr8:104718269..104720075-chr8:105140265..105142046,2	MCF-7	breast:
12	chr8:105017671..105019829-chr8:105023153..105025730,2	K562	blood:
13	chr19:35402456..35403352-chr8:105139491..105140129,2	MCF-7	breast:
14	chr5:134061778..134062420-chr8:105118451..105119152,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000005483	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000239569	chromatin interactions
ENSG00000141956	chromatin interactions

Extended variants
information (count: 3156 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:3156 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7829175	chr8:105016866-105016867	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373493236	chr8:105016901-105016902	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs545340288	chr8:105016925-105016926	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs564028515	chr8:105016937-105016938	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs193236805	chr8:105016980-105016981	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs548986767	chr8:105016987-105016988	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs560907969	chr8:105016995-105016996	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs142916857	chr8:105017099-105017100	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs77379485	chr8:105017102-105017103	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs528193203	chr8:105017119-105017120	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs376411772	chr8:105017159-105017160	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs139356250	chr8:105017184-105017185	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs571316149	chr8:105017185-105017186	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs538843398	chr8:105017202-105017203	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs550573787	chr8:105017211-105017212	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs369626281	chr8:105017235-105017236	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs150023033	chr8:105017281-105017282	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs536181148	chr8:105017309-105017310	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs34333160	chr8:105017346-105017347	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs555337870	chr8:105017429-105017430	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs185661644	chr8:105017475-105017476	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs534766666	chr8:105017503-105017504	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs553445752	chr8:105017514-105017515	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs190714656	chr8:105017517-105017518	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs578088204	chr8:105017605-105017606	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs57031548	chr8:105017609-105017610	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563909128	chr8:105017634-105017635	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs145356708	chr8:105017727-105017728	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs567588290	chr8:105017775-105017776	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs543391757	chr8:105017836-105017837	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs192831243	chr8:105017870-105017871	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs560822118	chr8:105017905-105017906	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs373629827	chr8:105017994-105017995	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs184358989	chr8:105018039-105018040	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs118099213	chr8:105018123-105018124	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs565013830	chr8:105018124-105018125	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs376613367	chr8:105018136-105018137	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs550741617	chr8:105018167-105018168	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs534933820	chr8:105018327-105018328	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs568757870	chr8:105018332-105018333	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs536093822	chr8:105018368-105018369	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs375334181	chr8:105018374-105018375	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs71520863	chr8:105018421-105018422	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs548087371	chr8:105018428-105018429	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs567287404	chr8:105018433-105018434	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs552640959	chr8:105018480-105018481	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs78698964	chr8:105018490-105018491	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs116915026	chr8:105018505-105018506	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs578035159	chr8:105018510-105018511	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs538799076	chr8:105018529-105018530	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105002400-105025600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:105019200-105040400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:105019400-105022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:105021600-105022000	Enhancers	Brain Hippocampus Middle	brain
5	chr8:105021800-105025200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:105022000-105022200	Active TSS	Brain Hippocampus Middle	brain
7	chr8:105022000-105022200	Enhancers	Brain Substantia Nigra	brain
8	chr8:105022000-105022600	Enhancers	Brain Angular Gyrus	brain
9	chr8:105022000-105024200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:105022200-105022400	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr8:105022200-105022600	Active TSS	Brain Anterior Caudate	brain
12	chr8:105022200-105022600	Active TSS	Brain Cingulate Gyrus	brain
13	chr8:105022200-105022600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr8:105022200-105022600	Active TSS	Brain Substantia Nigra	brain
15	chr8:105022200-105022800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:105022200-105023400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:105022200-105023400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:105022400-105022800	Active TSS	Brain Hippocampus Middle	brain
19	chr8:105022600-105023000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:105022600-105023000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:105022600-105023400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:105022600-105023600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:105022800-105023600	Enhancers	Brain Hippocampus Middle	brain
24	chr8:105022800-105042400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:105023000-105023400	Enhancers	Brain Angular Gyrus	brain
26	chr8:105023000-105023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:105023000-105023600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:105023000-105023600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr8:105023200-105023400	Enhancers	Brain Substantia Nigra	brain
30	chr8:105023400-105023600	Enhancers	Brain Anterior Caudate	brain
31	chr8:105023400-105025200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:105024400-105041000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:105025000-105027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:105025600-105025800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:105025600-105028400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:105027200-105028600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:105028400-105047000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:105028600-105038600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:105030200-105030600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:105030600-105031800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:105031800-105035000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:105033600-105039400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:105035000-105039600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:105036000-105036200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:105036800-105038600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:105037400-105037600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:105037600-105038400	Enhancers	HMEC	breast
48	chr8:105037600-105039200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:105037600-105039600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:105037800-105039800	Enhancers	Muscle Satellite Cultured Cells	--

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