Variant report

Variant	esv3415723
Chromosome Location	chr8:91068729-91069229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91066837..91069760-chr8:91090559..91092238,2	K562	blood:
2	chr8:91066157..91069252-chr8:91070814..91073830,4	K562	blood:
3	chr8:91067749..91069663-chr8:91070983..91072713,2	K562	blood:

Variant related genes	Relation type
ENSG00000104327	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369766858	chr8:91068729-91068730	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375588075	chr8:91068777-91068778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556237391	chr8:91068781-91068782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372092190	chr8:91068787-91068788	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs71560250	chr8:91068789-91068790	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs199902021	chr8:91068793-91068794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184718537	chr8:91068836-91068837	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557496085	chr8:91068894-91068895	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371862424	chr8:91068910-91068911	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7017507	chr8:91068994-91068995	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538828990	chr8:91069005-91069006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553742668	chr8:91069061-91069062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572409119	chr8:91069075-91069076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540610670	chr8:91069111-91069112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78408336	chr8:91069128-91069129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546237483	chr8:91069149-91069150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199611579	chr8:91069185-91069186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200267988	chr8:91069187-91069188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369191751	chr8:91069226-91069227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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	21611746	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91052400-91069200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:91055600-91074600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:91057800-91093600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:91058000-91071400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:91058000-91085800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:91058200-91080200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:91058400-91069000	Weak transcription	Placenta	Placenta
8	chr8:91058600-91069000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:91058600-91069000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:91058600-91069600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:91058600-91069800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:91058600-91070200	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:91058600-91070400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:91058600-91070400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:91058600-91070800	Weak transcription	HSMMtube	muscle
16	chr8:91058600-91078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:91058800-91069000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:91059000-91069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:91059000-91071000	Weak transcription	Primary T cells from cord blood	blood
20	chr8:91059000-91074400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:91059000-91084800	Weak transcription	Brain Anterior Caudate	brain
22	chr8:91059400-91069800	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:91061400-91071000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:91063600-91068800	Strong transcription	Adipose Nuclei	Adipose
25	chr8:91064000-91068800	Strong transcription	Primary B cells from cord blood	blood
26	chr8:91065400-91069000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:91065400-91069200	Weak transcription	NH-A	brain
28	chr8:91065600-91068800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:91065600-91070000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:91065600-91070200	Weak transcription	Fetal Brain Male	brain
31	chr8:91065600-91070400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:91065600-91070800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:91065800-91069000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:91065800-91069400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:91065800-91069800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:91065800-91070000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:91065800-91070000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:91065800-91070000	Weak transcription	Fetal Thymus	thymus
39	chr8:91065800-91070200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:91065800-91070400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:91065800-91070400	Weak transcription	Fetal Intestine Large	intestine
42	chr8:91065800-91070400	Weak transcription	Thymus	Thymus
43	chr8:91065800-91072800	Weak transcription	Left Ventricle	heart
44	chr8:91066200-91083800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:91066400-91069000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:91066400-91069200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:91066400-91069400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:91066400-91071200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:91067000-91069000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:91067000-91070200	Weak transcription	Duodenum Mucosa	Duodenum

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