Variant report

Variant	nsv981863
Chromosome Location	chr8:9446521-9455100
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:9445664..9448408-chr8:9450889..9452494,2	K562	blood:
2	chr8:9450877..9453725-chr8:9457625..9461148,3	K562	blood:
3	chr8:9436374..9438118-chr8:9448298..9450020,2	K562	blood:
4	chr8:9454898..9456532-chr8:9457178..9459757,2	K562	blood:
5	chr8:9445664..9448408-chr8:9450889..9452494,2	K562	blood:
6	chr8:9453884..9455961-chr8:9458927..9460754,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R3B-12	chr8:9450067-9451440	ncRnaDb_ncrna_FR149560_1

No data

Extended variants
information (count: 442 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147244941	chr8:9446561-9446562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186279559	chr8:9446566-9446567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79892577	chr8:9446575-9446576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190209326	chr8:9446582-9446583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140670737	chr8:9446595-9446596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372240368	chr8:9446609-9446610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144531735	chr8:9446612-9446613	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182808134	chr8:9446613-9446614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548495240	chr8:9446616-9446617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568240577	chr8:9446691-9446692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145603324	chr8:9446733-9446734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553975040	chr8:9446754-9446755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573382906	chr8:9446756-9446757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61103910	chr8:9446769-9446770	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559091303	chr8:9446821-9446822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575750317	chr8:9446822-9446823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544264941	chr8:9446842-9446843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561655164	chr8:9446881-9446882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575006399	chr8:9446920-9446921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540839501	chr8:9446950-9446951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375246448	chr8:9446954-9446955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532083332	chr8:9446960-9446961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75468194	chr8:9446999-9447000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74511111	chr8:9447015-9447016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186719375	chr8:9447070-9447071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547846889	chr8:9447072-9447073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142607426	chr8:9447077-9447078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537685763	chr8:9447087-9447088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76672559	chr8:9447140-9447141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116334972	chr8:9447155-9447156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577510526	chr8:9447166-9447167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559128521	chr8:9447169-9447170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575628989	chr8:9447175-9447176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150967562	chr8:9447184-9447185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554634858	chr8:9447194-9447195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575088692	chr8:9447197-9447198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545470194	chr8:9447200-9447201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540525238	chr8:9447207-9447208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140898803	chr8:9447290-9447291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369857268	chr8:9447292-9447293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545963364	chr8:9447323-9447324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190679555	chr8:9447332-9447333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144632168	chr8:9447337-9447338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531273442	chr8:9447338-9447339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548177685	chr8:9447372-9447373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs80022017	chr8:9447399-9447400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146668875	chr8:9447421-9447422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570745150	chr8:9447445-9447446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553221481	chr8:9447446-9447447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182919377	chr8:9447495-9447496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
low-grade B-cell lymphoma tumor	18367492	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
Bladder cancer	21909424	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
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:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:9427400-9450000	Weak transcription	Thymus	Thymus
4	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:9428400-9450000	Weak transcription	Psoas Muscle	Psoas
6	chr8:9429000-9450000	Weak transcription	Fetal Kidney	kidney
7	chr8:9430200-9449800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:9431000-9447000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:9431000-9448800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:9431000-9449400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:9431000-9450000	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:9432000-9448200	Weak transcription	Fetal Brain Male	brain
13	chr8:9433600-9461000	Weak transcription	Fetal Stomach	stomach
14	chr8:9434800-9459000	Weak transcription	Primary B cells from cord blood	blood
15	chr8:9435200-9448800	Weak transcription	HUVEC	blood vessel
16	chr8:9435400-9448800	Weak transcription	NHLF	lung
17	chr8:9435400-9449800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:9435400-9465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:9435400-9468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:9435600-9448800	Weak transcription	A549	lung
21	chr8:9435600-9449000	Weak transcription	Liver	Liver
22	chr8:9435600-9449600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:9435600-9450000	Weak transcription	Small Intestine	intestine
24	chr8:9435600-9457600	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:9435600-9472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:9435800-9447000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:9435800-9447400	Weak transcription	Gastric	stomach
28	chr8:9435800-9447400	Weak transcription	Ovary	ovary
29	chr8:9435800-9447400	Weak transcription	Right Atrium	heart
30	chr8:9435800-9448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:9435800-9448800	Weak transcription	Spleen	Spleen
32	chr8:9435800-9449600	Weak transcription	Stomach Mucosa	stomach
33	chr8:9435800-9459400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:9435800-9465400	Weak transcription	Lung	lung
35	chr8:9435800-9465600	Weak transcription	Pancreas	Pancrea
36	chr8:9435800-9472600	Weak transcription	HSMMtube	muscle
37	chr8:9436000-9446600	Weak transcription	Fetal Heart	heart
38	chr8:9436000-9446600	Weak transcription	Fetal Intestine Small	intestine
39	chr8:9436000-9449600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:9436400-9448800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:9437400-9448800	Weak transcription	Fetal Brain Female	brain
42	chr8:9437400-9449200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:9437400-9468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:9437800-9447000	Weak transcription	Left Ventricle	heart
45	chr8:9437800-9447000	Weak transcription	Right Ventricle	heart
46	chr8:9438000-9450000	Weak transcription	K562	blood
47	chr8:9439200-9448800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:9439200-9449400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:9439200-9450000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:9439200-9450000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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