Variant report

Variant	esv14070
Chromosome Location	chr8:100213556-100228531
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:100214282..100216094-chr8:100216677..100219374,2	MCF-7	breast:
2	chr8:100020387..100022270-chr8:100223332..100224852,2	MCF-7	breast:
3	chr8:100217626..100220133-chr8:100221301..100223694,2	K562	blood:
4	chr8:100210858..100212558-chr8:100220865..100223573,2	MCF-7	breast:
5	chr8:100218080..100220133-chr8:100221773..100223694,2	K562	blood:
6	chr8:100222308..100224756-chr8:100228347..100230627,2	K562	blood:
7	chr8:100217626..100220133-chr8:100221301..100223694,2	K562	blood:
8	chr8:100225233..100227725-chr8:100239951..100242291,2	MCF-7	breast:
9	chr5:56110114..56112436-chr8:100221279..100223933,2	MCF-7	breast:
10	chr8:100222308..100224756-chr8:100228347..100230627,2	K562	blood:
11	chr8:100218080..100220133-chr8:100221773..100223694,2	K562	blood:
12	chr8:100214282..100216094-chr8:100216677..100219374,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	VPS13B	hsa-miR-186-5p	chr8:100221987-100222010

Variant related genes	Relation type
ENSG00000095015	chromatin interactions

Extended variants
information (count: 549 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536470591	chr8:100213567-100213568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190460783	chr8:100213599-100213600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553162310	chr8:100213605-100213606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576547545	chr8:100213625-100213626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545746531	chr8:100213752-100213753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368198156	chr8:100213786-100213787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180780424	chr8:100213875-100213876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35755686	chr8:100213925-100213926	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375341952	chr8:100213931-100213932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534466151	chr8:100213971-100213972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541389384	chr8:100214005-100214006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139942025	chr8:100214029-100214030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530173830	chr8:100214034-100214035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536195616	chr8:100214068-100214069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143375506	chr8:100214106-100214107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11997495	chr8:100214268-100214269	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs532203773	chr8:100214300-100214301	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563227530	chr8:100214314-100214315	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552094191	chr8:100214360-100214361	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4299976	chr8:100214368-100214369	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146825893	chr8:100214373-100214374	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139582799	chr8:100214411-100214412	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547756698	chr8:100214417-100214418	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568080990	chr8:100214421-100214422	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537187126	chr8:100214445-100214446	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185970196	chr8:100214446-100214447	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570268693	chr8:100214514-100214515	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577219760	chr8:100214551-100214552	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546109391	chr8:100214593-100214594	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559329593	chr8:100214608-100214609	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs539192630	chr8:100214616-100214617	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs376016635	chr8:100214619-100214620	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149988566	chr8:100214684-100214685	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs572746238	chr8:100214686-100214687	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541451044	chr8:100214741-100214742	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs554980914	chr8:100214746-100214747	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs149220577	chr8:100214758-100214759	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs543943007	chr8:100214762-100214763	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs563620924	chr8:100214785-100214786	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532185083	chr8:100214849-100214850	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545547723	chr8:100214902-100214903	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528265529	chr8:100214969-100214970	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559245210	chr8:100214972-100214973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112806236	chr8:100214975-100214976	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36109378	chr8:100214979-100214980	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190083110	chr8:100214989-100214990	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568078194	chr8:100215055-100215056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182820924	chr8:100215075-100215076	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550656361	chr8:100215085-100215086	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548426939	chr8:100215108-100215109	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
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
Multiple myeloma	16461302	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
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
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100163400-100214400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:100163400-100224800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:100163400-100225000	Weak transcription	Fetal Thymus	thymus
4	chr8:100163400-100226800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:100163400-100226800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:100163400-100230600	Weak transcription	Right Ventricle	heart
7	chr8:100163600-100214200	Weak transcription	Dnd41	blood
8	chr8:100163600-100214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:100164000-100225600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:100164000-100229600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:100164200-100245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:100164800-100214400	Weak transcription	Liver	Liver
13	chr8:100171400-100214400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:100175400-100222800	Weak transcription	Fetal Stomach	stomach
15	chr8:100176200-100222600	Weak transcription	Fetal Intestine Large	intestine
16	chr8:100178800-100245000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:100178800-100245000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:100179200-100217000	Weak transcription	Adipose Nuclei	Adipose
19	chr8:100179200-100223000	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:100179200-100229600	Weak transcription	Fetal Lung	lung
21	chr8:100179400-100216800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:100188000-100230800	Weak transcription	Left Ventricle	heart
23	chr8:100198400-100220000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:100198400-100245800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:100200200-100214200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:100201400-100245200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:100202200-100243600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:100202600-100215600	Weak transcription	K562	blood
29	chr8:100203000-100220800	Weak transcription	HepG2	liver
30	chr8:100203000-100222600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:100203000-100230000	Weak transcription	HSMMtube	muscle
32	chr8:100203000-100236200	Weak transcription	HSMM	muscle
33	chr8:100203400-100215400	Weak transcription	A549	lung
34	chr8:100203600-100214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:100203600-100216400	Weak transcription	Osteobl	bone
36	chr8:100203600-100217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:100203600-100229400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:100203600-100229800	Weak transcription	NH-A	brain
39	chr8:100203600-100230200	Weak transcription	Ovary	ovary
40	chr8:100203800-100215400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:100203800-100219200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:100203800-100245600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:100204200-100227800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:100204200-100229400	Weak transcription	NHDF-Ad	bronchial
45	chr8:100204200-100248200	Weak transcription	Esophagus	oesophagus
46	chr8:100204400-100216200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:100205000-100216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:100205200-100241600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:100205600-100230400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:100206800-100215200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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