Variant report

Variant	esv3373479
Chromosome Location	chr8:91643584-91644160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91637648..91642944-chr8:91643951..91646932,7	MCF-7	breast:
2	chr8:91637038..91640494-chr8:91640523..91644526,4	MCF-7	breast:
3	chr8:91630484..91635085-chr8:91641096..91646066,7	K562	blood:
4	chr8:91643323..91645678-chr8:91712427..91714389,2	K562	blood:

Variant related genes	Relation type
ENSG00000254182	chromatin interactions
ENSG00000254180	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539391246	chr8:91643695-91643696	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs528906816	chr8:91643703-91643704	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs370766626	chr8:91643730-91643731	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528386308	chr8:91643749-91643750	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374545087	chr8:91643765-91643766	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566688115	chr8:91643768-91643769	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201398689	chr8:91643787-91643788	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs373497726	chr8:91643823-91643824	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376632890	chr8:91643845-91643846	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370431162	chr8:91643861-91643862	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs534780564	chr8:91643893-91643894	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370084394	chr8:91643894-91643895	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373266981	chr8:91643895-91643896	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376429441	chr8:91643913-91643914	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs148180898	chr8:91643924-91643925	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369322965	chr8:91643941-91643942	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs73301567	chr8:91643942-91643943	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548832187	chr8:91643954-91643955	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375846994	chr8:91643967-91643968	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574702493	chr8:91644024-91644025	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535852837	chr8:91644033-91644034	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs58040450	chr8:91644146-91644147	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

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
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
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
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91620400-91652200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:91624000-91654800	Weak transcription	Pancreas	Pancrea
3	chr8:91624200-91652200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:91624400-91644800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:91628200-91650400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:91628600-91652000	Weak transcription	HUVEC	blood vessel
7	chr8:91629200-91650200	Weak transcription	Esophagus	oesophagus
8	chr8:91629200-91653400	Weak transcription	Ovary	ovary
9	chr8:91629200-91654600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:91629400-91645200	Weak transcription	NHDF-Ad	bronchial
11	chr8:91629600-91654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:91630600-91649400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:91630600-91653600	Weak transcription	Fetal Intestine Small	intestine
14	chr8:91630600-91654200	Weak transcription	HSMMtube	muscle
15	chr8:91630600-91654400	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:91630600-91655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:91630800-91652200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:91630800-91654400	Weak transcription	Fetal Intestine Large	intestine
20	chr8:91631000-91654800	Weak transcription	NH-A	brain
21	chr8:91631200-91654400	Weak transcription	Psoas Muscle	Psoas
22	chr8:91632000-91656800	Weak transcription	Left Ventricle	heart
23	chr8:91632400-91652200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:91632600-91650200	Weak transcription	Right Atrium	heart
25	chr8:91632800-91654600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:91633200-91652200	Weak transcription	NHLF	lung
27	chr8:91633800-91650400	Weak transcription	Adipose Nuclei	Adipose
28	chr8:91634200-91650400	Weak transcription	Fetal Lung	lung
29	chr8:91634800-91652200	Weak transcription	Hela-S3	cervix
30	chr8:91635200-91645200	Weak transcription	NHEK	skin
31	chr8:91635200-91647200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:91636600-91647000	Weak transcription	K562	blood
33	chr8:91637600-91652200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:91638000-91645000	Weak transcription	HMEC	breast
35	chr8:91638000-91646600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:91638200-91654800	Weak transcription	Placenta	Placenta
37	chr8:91638600-91645400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:91638600-91645400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:91638600-91645400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:91638600-91645400	Weak transcription	HSMM	muscle
41	chr8:91638600-91647200	Weak transcription	Brain Angular Gyrus	brain
42	chr8:91638800-91651600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:91639600-91650200	Weak transcription	HepG2	liver
44	chr8:91640000-91647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:91640400-91650200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:91640800-91645200	Weak transcription	Brain Anterior Caudate	brain
47	chr8:91640800-91649000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:91640800-91654600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:91641000-91644000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:91641000-91648800	Weak transcription	Brain Cingulate Gyrus	brain

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