Variant report

Variant	esv3339106
Chromosome Location	chr8:67356798-67361196
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67360913..67363800-chr8:67364065..67366392,2	MCF-7	breast:
2	chr8:67358368..67361034-chr8:67361272..67364476,3	K562	blood:
3	chr8:67358722..67361670-chr8:67363913..67366041,2	MCF-7	breast:
4	chr8:67360323..67362172-chr8:67364568..67366628,2	K562	blood:
5	chr8:67351366..67354034-chr8:67356194..67358324,2	K562	blood:
6	chr8:67344388..67346218-chr8:67359592..67361320,2	K562	blood:
7	chr8:67352250..67355147-chr8:67358287..67360742,2	K562	blood:
8	chr8:67351184..67354069-chr8:67354763..67356829,3	MCF-7	breast:
9	chr8:67344979..67348651-chr8:67356606..67358747,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147576	chromatin interactions

Extended variants
information (count: 178 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373304810	chr8:67356816-67356817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147823260	chr8:67356829-67356830	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141269318	chr8:67356832-67356833	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377352597	chr8:67356876-67356877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371267288	chr8:67356910-67356911	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567577128	chr8:67356940-67356941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146952953	chr8:67356945-67356946	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376306377	chr8:67356975-67356976	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148000398	chr8:67356981-67356982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs72652748	chr8:67357073-67357074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556835935	chr8:67357074-67357075	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113707687	chr8:67357076-67357077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575109506	chr8:67357096-67357097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573452272	chr8:67357133-67357134	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188259887	chr8:67357169-67357170	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192941362	chr8:67357172-67357173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545564399	chr8:67357178-67357179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533106241	chr8:67357203-67357204	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200376240	chr8:67357237-67357238	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540340207	chr8:67357249-67357250	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565367172	chr8:67357250-67357251	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1963852	chr8:67357262-67357263	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs546820045	chr8:67357268-67357269	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376196518	chr8:67357300-67357301	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112389941	chr8:67357308-67357309	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569169939	chr8:67357323-67357324	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531600564	chr8:67357327-67357328	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143198813	chr8:67357335-67357336	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562591467	chr8:67357340-67357341	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571309215	chr8:67357341-67357342	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533987649	chr8:67357360-67357361	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547498970	chr8:67357361-67357362	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567489471	chr8:67357362-67357363	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs372348877	chr8:67357394-67357395	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113792867	chr8:67357400-67357401	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184112371	chr8:67357444-67357445	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576713308	chr8:67357451-67357452	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111371011	chr8:67357466-67357467	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141638587	chr8:67357484-67357485	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200282552	chr8:67357488-67357489	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147458577	chr8:67357498-67357499	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs139870830	chr8:67357506-67357507	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs202039447	chr8:67357511-67357512	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs61737672	chr8:67357512-67357513	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560317327	chr8:67357515-67357516	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138946702	chr8:67357526-67357527	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142244838	chr8:67357545-67357546	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374237767	chr8:67357575-67357576	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201305131	chr8:67357579-67357580	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542850663	chr8:67357583-67357584	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352000-67358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:67352000-67363600	Weak transcription	Esophagus	oesophagus
3	chr8:67352200-67357000	Weak transcription	Aorta	Aorta
4	chr8:67352200-67357400	Weak transcription	Brain Angular Gyrus	brain
5	chr8:67352200-67357800	Weak transcription	Left Ventricle	heart
6	chr8:67352200-67358000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:67352200-67358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:67352200-67358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:67352200-67358000	Weak transcription	Pancreas	Pancrea
10	chr8:67352200-67360200	Weak transcription	Lung	lung
11	chr8:67352200-67360200	Weak transcription	Ovary	ovary
12	chr8:67352200-67360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:67352200-67361000	Weak transcription	Spleen	Spleen
14	chr8:67352200-67361200	Weak transcription	Gastric	stomach
15	chr8:67352200-67361200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
17	chr8:67352400-67357600	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:67352400-67357800	Weak transcription	Brain Anterior Caudate	brain
19	chr8:67352400-67358600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:67352400-67360200	Weak transcription	Right Ventricle	heart
21	chr8:67352400-67360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:67352400-67361600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:67352600-67357400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:67352600-67358200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:67352800-67356800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:67352800-67357400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:67352800-67358000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:67353000-67358000	Weak transcription	HSMMtube	muscle
32	chr8:67353200-67358400	Weak transcription	Fetal Heart	heart
33	chr8:67353200-67361000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:67353200-67361200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr8:67353400-67357600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:67353400-67357800	Weak transcription	GM12878-XiMat	blood
37	chr8:67353400-67358000	Weak transcription	HSMM	muscle
38	chr8:67353400-67358000	Weak transcription	Osteobl	bone
39	chr8:67353400-67358400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:67353400-67358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:67353400-67365400	Weak transcription	Fetal Brain Male	brain
42	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:67353600-67357400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:67353600-67357600	Weak transcription	NHDF-Ad	bronchial
45	chr8:67353600-67358000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:67353600-67358000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:67353600-67360600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr8:67353600-67365200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:67353800-67357800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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