Variant report

Variant	nsv395873
Chromosome Location	chr8:66635856-66636488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:66636357-66636821	K562	blood:	n/a	n/a
2	POLR2A	chr8:66635958-66636211	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:66634318..66636259-chr8:66648468..66650206,2	K562	blood:
2	chr8:66629168..66631194-chr8:66635372..66637144,2	MCF-7	breast:
3	chr8:66628174..66631200-chr8:66633706..66636943,3	K562	blood:
4	chr8:66631641..66633524-chr8:66633808..66636306,2	K562	blood:
5	chr8:66634454..66636927-chr8:66637677..66640769,3	K562	blood:
6	chr8:66634454..66636931-chr8:66637677..66639411,3	K562	blood:
7	chr8:66629100..66631894-chr8:66634676..66636367,2	K562	blood:

No data

Variant related genes	Relation type
MTFR1	TF binding region
ENSG00000205268	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138331638	chr8:66635883-66635884	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565949429	chr8:66635893-66635894	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536075730	chr8:66635895-66635896	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554780207	chr8:66635899-66635900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569772194	chr8:66635938-66635939	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555978383	chr8:66636028-66636029	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558681210	chr8:66636033-66636034	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573675103	chr8:66636065-66636066	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576790650	chr8:66636070-66636071	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs17395878	chr8:66636107-66636108	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554181700	chr8:66636144-66636145	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142886854	chr8:66636165-66636166	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs150214153	chr8:66636183-66636184	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561104378	chr8:66636280-66636281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531778221	chr8:66636295-66636296	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543558664	chr8:66636356-66636357	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565360429	chr8:66636423-66636424	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376877317	chr8:66636425-66636426	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547736625	chr8:66636433-66636434	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs565301886	chr8:66636439-66636440	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs565859799	chr8:66636446-66636447	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs370427800	chr8:66636450-66636451	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs374831605	chr8:66636468-66636469	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375232458	chr8:66636477-66636478	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
early-passage human iPS cells	21368824	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66602800-66641800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:66602800-66650600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:66606600-66639400	Weak transcription	Fetal Heart	heart
4	chr8:66617600-66646200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:66620800-66648800	Weak transcription	Psoas Muscle	Psoas
6	chr8:66621400-66673000	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:66624600-66661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:66625600-66661400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:66626200-66652000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:66626200-66664600	Strong transcription	Fetal Thymus	thymus
11	chr8:66626400-66656600	Strong transcription	Primary T cells from cord blood	blood
12	chr8:66626600-66640400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:66626600-66653600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr8:66626600-66655600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:66627200-66640400	Strong transcription	Left Ventricle	heart
16	chr8:66627200-66655000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:66627400-66637600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:66627400-66640400	Strong transcription	Thymus	Thymus
19	chr8:66628000-66652000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:66628200-66636400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:66628200-66640800	Strong transcription	Primary hematopoietic stem cells	blood
22	chr8:66628200-66660000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:66628200-66660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:66628400-66636600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:66628400-66636600	Strong transcription	Fetal Brain Female	brain
26	chr8:66628400-66637200	Strong transcription	GM12878-XiMat	blood
27	chr8:66628400-66637800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:66628400-66638000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:66628400-66638000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:66628400-66638000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:66628400-66640000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:66628400-66650200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:66628400-66651600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:66628400-66652400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:66628400-66652800	Strong transcription	Primary B cells from cord blood	blood
36	chr8:66628400-66663800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr8:66628400-66666600	Strong transcription	Dnd41	blood
38	chr8:66628800-66637000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:66630000-66638400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:66630400-66637800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:66630400-66639400	Strong transcription	Liver	Liver
42	chr8:66630600-66636600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:66630600-66637200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:66630600-66637800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr8:66630600-66638200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:66630600-66646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:66630800-66637000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:66630800-66637600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:66631000-66637000	Strong transcription	NH-A	brain
50	chr8:66631000-66637200	Strong transcription	HUVEC	blood vessel

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