Variant report

Variant	esv2062022
Chromosome Location	chr8:67687913-67688322
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67623840..67628206-chr8:67684536..67689963,10	MCF-7	breast:
2	chr8:67686161..67689126-chr8:67837035..67839189,3	MCF-7	breast:
3	chr14:20922332..20925092-chr8:67686115..67688747,2	MCF-7	breast:
4	chr8:67687366..67688870-chr8:67714479..67716823,2	MCF-7	breast:
5	chr19:10764662..10765449-chr8:67687390..67687995,2	Hela-S3	cervix:
6	chr8:67679426..67682850-chr8:67685212..67688509,3	MCF-7	breast:
7	chr8:67624145..67628067-chr8:67684003..67690579,11	MCF-7	breast:
8	chr8:67679605..67685169-chr8:67685347..67688416,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129351	chromatin interactions
ENSG00000104205	chromatin interactions
ENSG00000213005	chromatin interactions
ENSG00000245910	chromatin interactions
ENSG00000092094	chromatin interactions
ENSG00000100823	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552859129	chr8:67687928-67687929	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs573083561	chr8:67687951-67687952	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs541905697	chr8:67687966-67687967	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs372088878	chr8:67687968-67687969	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs75685434	chr8:67687987-67687988	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs565703280	chr8:67687999-67688000	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs192530262	chr8:67688017-67688018	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs542956747	chr8:67688042-67688043	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs534311318	chr8:67688050-67688051	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs563221853	chr8:67688097-67688098	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs372181928	chr8:67688101-67688102	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs544707504	chr8:67688129-67688130	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs34937878	chr8:67688174-67688175	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs374465097	chr8:67688201-67688202	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs564543313	chr8:67688294-67688295	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs117861823	chr8:67688321-67688322	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	5 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
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67686400-67688000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:67686400-67688000	Active TSS	Brain Germinal Matrix	brain
3	chr8:67686400-67688000	Active TSS	Osteobl	bone
4	chr8:67686400-67688200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:67686400-67688400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr8:67686400-67688400	Active TSS	Colonic Mucosa	Colon
7	chr8:67686400-67688400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr8:67686400-67688400	Active TSS	Right Atrium	heart
9	chr8:67686400-67688600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:67686400-67688600	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:67686400-67688800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:67686400-67689200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:67686600-67688000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:67686600-67688000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:67686600-67688000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr8:67686600-67688000	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr8:67686600-67688000	Active TSS	Duodenum Mucosa	Duodenum
18	chr8:67686600-67688000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr8:67686600-67688000	Active TSS	Fetal Kidney	kidney
20	chr8:67686600-67688000	Active TSS	HSMM	muscle
21	chr8:67686600-67688000	Active TSS	NHDF-Ad	bronchial
22	chr8:67686600-67688200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:67686600-67688200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:67686600-67688200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:67686600-67688200	Active TSS	Fetal Heart	heart
26	chr8:67686600-67688200	Active TSS	Gastric	stomach
27	chr8:67686600-67688200	Active TSS	Left Ventricle	heart
28	chr8:67686600-67688200	Active TSS	Right Ventricle	heart
29	chr8:67686600-67688200	Active TSS	NHLF	lung
30	chr8:67686600-67688400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:67686600-67688400	Active TSS	Muscle Satellite Cultured Cells	--
32	chr8:67686600-67688400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:67686600-67688400	Active TSS	Aorta	Aorta
34	chr8:67686600-67688400	Active TSS	Brain Anterior Caudate	brain
35	chr8:67686600-67688400	Active TSS	Brain Hippocampus Middle	brain
36	chr8:67686600-67688400	Active TSS	Ovary	ovary
37	chr8:67686600-67688600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr8:67686600-67688600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:67686600-67688600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:67686600-67688600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:67686600-67688600	Active TSS	Psoas Muscle	Psoas
42	chr8:67686600-67688600	Active TSS	Rectal Smooth Muscle	rectum
43	chr8:67686800-67688000	Active TSS	Fetal Intestine Small	intestine
44	chr8:67686800-67688000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr8:67686800-67688000	Active TSS	Thymus	Thymus
46	chr8:67686800-67688000	Active TSS	A549	lung
47	chr8:67686800-67688000	Active TSS	HepG2	liver
48	chr8:67686800-67688000	Active TSS	HUVEC	blood vessel
49	chr8:67686800-67688200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr8:67686800-67688200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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