Variant report

Variant	nsv971679
Chromosome Location	chr8:87479328-87480050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87480003..87483972-chr8:87519479..87521956,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176623	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185629286	chr8:87479337-87479338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544707617	chr8:87479347-87479348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561208452	chr8:87479356-87479357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112688537	chr8:87479383-87479384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540627047	chr8:87479399-87479400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560475132	chr8:87479433-87479434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532455262	chr8:87479435-87479436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552449457	chr8:87479464-87479465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562722613	chr8:87479495-87479496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373524632	chr8:87479497-87479498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531391639	chr8:87479534-87479535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188927259	chr8:87479587-87479588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58997023	chr8:87479626-87479627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192144637	chr8:87479669-87479670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184184991	chr8:87479697-87479698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570067572	chr8:87479708-87479709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538968619	chr8:87479753-87479754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558951181	chr8:87479785-87479786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188738859	chr8:87479791-87479792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8635	chr8:87479810-87479811	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs372493959	chr8:87479832-87479833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116580489	chr8:87479847-87479848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564549750	chr8:87479866-87479867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528527309	chr8:87479879-87479880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371121779	chr8:87479965-87479966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143113633	chr8:87480005-87480006	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540688009	chr8:87480006-87480007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191645316	chr8:87480021-87480022	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Autism	20841430	CNVD
Breast cancer	21364760	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
Prostate cancer	17016436	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87436800-87483200	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr8:87437400-87482800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:87444400-87488800	Weak transcription	NHLF	lung
7	chr8:87448800-87481400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:87449600-87480800	Weak transcription	Right Ventricle	heart
10	chr8:87451800-87485400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:87453200-87482600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:87453200-87488600	Weak transcription	HSMMtube	muscle
13	chr8:87453400-87492000	Strong transcription	Adipose Nuclei	Adipose
14	chr8:87453600-87482400	Weak transcription	Fetal Brain Female	brain
15	chr8:87457400-87480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
17	chr8:87457800-87481000	Weak transcription	Esophagus	oesophagus
18	chr8:87457800-87492000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:87458000-87480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:87458800-87483400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:87458800-87486200	Strong transcription	Liver	Liver
22	chr8:87459000-87482800	Strong transcription	Placenta	Placenta
23	chr8:87459000-87483200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr8:87459200-87483000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:87459800-87482400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:87460000-87483000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:87460000-87485400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:87460600-87484400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:87460600-87485000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr8:87460600-87486000	Strong transcription	Dnd41	blood
33	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
34	chr8:87461400-87481000	Weak transcription	Brain Germinal Matrix	brain
35	chr8:87462200-87480800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:87462400-87480800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:87462400-87481400	Weak transcription	K562	blood
38	chr8:87463200-87482000	Strong transcription	HepG2	liver
39	chr8:87466200-87481000	Weak transcription	Psoas Muscle	Psoas
40	chr8:87467000-87480000	Weak transcription	Osteobl	bone
41	chr8:87467000-87480800	Weak transcription	Fetal Kidney	kidney
42	chr8:87467200-87481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:87468600-87480400	Weak transcription	HUVEC	blood vessel
44	chr8:87470000-87485800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:87470800-87485000	Strong transcription	Fetal Thymus	thymus
46	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr8:87471200-87482800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:87471600-87482200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:87471800-87479600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:87471800-87491600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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