Variant report

Variant	esv3437523
Chromosome Location	chr8:100860176-100864574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100860578..100862343-chr8:100868176..100871124,2	K562	blood:
2	chr8:100854504..100857053-chr8:100858896..100861024,2	K562	blood:
3	chr8:100858851..100861398-chr8:100877751..100880632,2	MCF-7	breast:
4	chr8:100858812..100861246-chr8:100863617..100865421,2	MCF-7	breast:
5	chr8:100858812..100861246-chr8:100863617..100865421,2	MCF-7	breast:
6	chr8:100854767..100857053-chr8:100859524..100862402,2	K562	blood:

Variant related genes	Relation type
ENSG00000132549	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs575293001	chr8:100860214-100860215	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544732156	chr8:100860248-100860249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564318733	chr8:100860270-100860271	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533390798	chr8:100860295-100860296	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551013380	chr8:100860332-100860333	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185331713	chr8:100860357-100860358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370044168	chr8:100860400-100860401	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571760656	chr8:100860418-100860419	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77218048	chr8:100860447-100860448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532974795	chr8:100860458-100860459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549726172	chr8:100860489-100860490	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549150214	chr8:100860524-100860525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191498703	chr8:100860548-100860549	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535594158	chr8:100860571-100860572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542688568	chr8:100860623-100860624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200028209	chr8:100860649-100860650	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551503199	chr8:100860650-100860651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs4434590	chr8:100860657-100860658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs113772646	chr8:100860659-100860660	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140473717	chr8:100860670-100860671	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547092632	chr8:100860673-100860674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374505353	chr8:100860715-100860716	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181624719	chr8:100860722-100860723	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187104694	chr8:100860727-100860728	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555530963	chr8:100860733-100860734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575478384	chr8:100860804-100860805	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113138150	chr8:100860816-100860817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562773462	chr8:100860868-100860869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558265712	chr8:100860869-100860870	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150406936	chr8:100860896-100860897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372193079	chr8:100860958-100860959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116746734	chr8:100861004-100861005	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560490673	chr8:100861018-100861019	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376549169	chr8:100861029-100861030	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369522130	chr8:100861036-100861037	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77308610	chr8:100861046-100861047	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201746251	chr8:100861054-100861055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs386834054	chr8:100861062-100861063	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542986432	chr8:100861072-100861073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138127778	chr8:100861110-100861111	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111353525	chr8:100861113-100861114	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34513504	chr8:100861146-100861147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs564959109	chr8:100861149-100861150	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183224726	chr8:100861216-100861217	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547323066	chr8:100861252-100861253	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576217731	chr8:100861290-100861291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149132949	chr8:100861304-100861305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549293916	chr8:100861366-100861367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555432363	chr8:100861388-100861389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187937689	chr8:100861437-100861438	Weak transcription Strong 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:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100791400-100861600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:100814200-100872400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:100816800-100865800	Weak transcription	Left Ventricle	heart
4	chr8:100816800-100866200	Weak transcription	Pancreas	Pancrea
5	chr8:100817600-100872400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:100818400-100865800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:100819000-100865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:100820200-100874000	Weak transcription	Colonic Mucosa	Colon
9	chr8:100822200-100865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:100826400-100865200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:100830400-100872200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:100832400-100872800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:100833800-100865400	Weak transcription	NHLF	lung
14	chr8:100835400-100869200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:100835600-100872200	Weak transcription	Brain Substantia Nigra	brain
16	chr8:100842800-100866200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:100843200-100865000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:100843200-100866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:100843200-100873800	Weak transcription	Esophagus	oesophagus
20	chr8:100844800-100865800	Weak transcription	Fetal Intestine Small	intestine
21	chr8:100844800-100872400	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:100845400-100872000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:100845800-100866200	Weak transcription	Brain Anterior Caudate	brain
24	chr8:100845800-100872000	Weak transcription	NH-A	brain
25	chr8:100846400-100872000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:100846400-100903800	Weak transcription	Stomach Mucosa	stomach
27	chr8:100848200-100865800	Weak transcription	Liver	Liver
28	chr8:100848200-100872000	Weak transcription	Brain Angular Gyrus	brain
29	chr8:100848400-100865800	Weak transcription	Brain Germinal Matrix	brain
30	chr8:100849200-100871000	Weak transcription	Fetal Kidney	kidney
31	chr8:100850200-100887600	Weak transcription	Psoas Muscle	Psoas
32	chr8:100851600-100862000	Strong transcription	Primary B cells from cord blood	blood
33	chr8:100852200-100874000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:100852400-100871600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:100853200-100860200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr8:100853200-100862000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr8:100853400-100865200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:100853400-100874200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:100854400-100871800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:100855600-100861200	Strong transcription	Fetal Muscle Leg	muscle
41	chr8:100855800-100865800	Weak transcription	Ovary	ovary
42	chr8:100856000-100865800	Weak transcription	Fetal Thymus	thymus
43	chr8:100856000-100874200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:100856600-100872200	Weak transcription	K562	blood
45	chr8:100856600-100874000	Weak transcription	Right Ventricle	heart
46	chr8:100856800-100862000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:100857000-100862200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:100857200-100861600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:100857200-100862000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:100857200-100862200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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