Variant report

Variant	esv3392789
Chromosome Location	chr10:18915321-18925576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:18923629..18926308-chr10:18938748..18941375,3	MCF-7	breast:
2	chr10:18910399..18912492-chr10:18914485..18916630,2	MCF-7	breast:
3	chr10:18907737..18909748-chr10:18914983..18916871,2	MCF-7	breast:
4	chr10:18921869..18924781-chr10:18927596..18930415,2	K562	blood:

Variant related genes	Relation type
ENSG00000241058	chromatin interactions

Extended variants
information (count: 511 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:511 , 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	rs541393754	chr10:18915369-18915370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145869684	chr10:18915418-18915419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192174298	chr10:18915419-18915420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549881720	chr10:18915464-18915465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563943162	chr10:18915494-18915495	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149020660	chr10:18915503-18915504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549673194	chr10:18915507-18915508	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11815892	chr10:18915561-18915562	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11815170	chr10:18915564-18915565	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547393786	chr10:18915569-18915570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546236792	chr10:18915582-18915583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570888118	chr10:18915625-18915626	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538759180	chr10:18915627-18915628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185697858	chr10:18915639-18915640	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575416219	chr10:18915644-18915645	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374140959	chr10:18915645-18915646	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11015205	chr10:18915647-18915648	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190371334	chr10:18915677-18915678	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370731551	chr10:18915681-18915682	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540533666	chr10:18915694-18915695	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538575402	chr10:18915700-18915701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5783617	chr10:18915705-18915706	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398114126	chr10:18915714-18915715	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181665389	chr10:18915742-18915743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10734063	chr10:18915760-18915761	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs545501585	chr10:18915766-18915767	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138088483	chr10:18915784-18915785	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376480804	chr10:18915825-18915826	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549126147	chr10:18915836-18915837	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs184278069	chr10:18915871-18915872	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs367762884	chr10:18915875-18915876	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs546874003	chr10:18915880-18915881	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs140838439	chr10:18915888-18915889	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs150156493	chr10:18915890-18915891	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550651987	chr10:18915893-18915894	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs10732437	chr10:18915902-18915903	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536333025	chr10:18915907-18915908	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532103978	chr10:18915910-18915911	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs554847952	chr10:18915951-18915952	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs188647851	chr10:18915995-18915996	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs375847050	chr10:18916018-18916019	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181258467	chr10:18916019-18916020	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558859161	chr10:18916057-18916058	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs551543934	chr10:18916097-18916098	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs112220374	chr10:18916105-18916106	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138647299	chr10:18916106-18916107	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186204646	chr10:18916114-18916115	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545029322	chr10:18916150-18916151	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs557438076	chr10:18916215-18916216	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149337274	chr10:18916230-18916231	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18848400-18915800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:18867800-18916400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:18868000-18916200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:18870600-18916000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:18872800-18916000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:18873600-18916000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:18875000-18916000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr10:18877200-18916200	Weak transcription	Thymus	Thymus
9	chr10:18877200-18916400	Weak transcription	Spleen	Spleen
10	chr10:18877400-18916200	Weak transcription	Pancreas	Pancrea
11	chr10:18877400-18916400	Weak transcription	Psoas Muscle	Psoas
12	chr10:18877600-18916400	Weak transcription	Gastric	stomach
13	chr10:18878000-18915600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:18881400-18916400	Weak transcription	Brain Angular Gyrus	brain
15	chr10:18882000-18916200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr10:18884200-18916400	Weak transcription	Aorta	Aorta
17	chr10:18884600-18916400	Weak transcription	Brain Hippocampus Middle	brain
18	chr10:18885400-18916200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr10:18885400-18916400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr10:18891600-18916400	Weak transcription	Lung	lung
21	chr10:18895600-18916400	Weak transcription	Left Ventricle	heart
22	chr10:18896600-18916400	Weak transcription	Colon Smooth Muscle	Colon
23	chr10:18896600-18916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:18896800-18916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr10:18897200-18916400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:18898400-18916400	Weak transcription	Fetal Kidney	kidney
27	chr10:18898400-18916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:18900000-18915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:18900000-18915800	Weak transcription	NHEK	skin
30	chr10:18900000-18916200	Weak transcription	NHLF	lung
31	chr10:18900000-18916600	Weak transcription	Stomach Mucosa	stomach
32	chr10:18900200-18915800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:18900200-18916000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:18900400-18916200	Weak transcription	NH-A	brain
35	chr10:18900400-18916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:18900600-18916400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:18900800-18916400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:18901200-18915600	Weak transcription	Fetal Lung	lung
39	chr10:18901200-18916400	Weak transcription	Esophagus	oesophagus
40	chr10:18901400-18915600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr10:18901400-18915800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr10:18901400-18916000	Weak transcription	Fetal Brain Female	brain
43	chr10:18901400-18916200	Weak transcription	Ovary	ovary
44	chr10:18901400-18916200	Weak transcription	HSMM	muscle
45	chr10:18901400-18916400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:18901600-18916200	Weak transcription	Brain Germinal Matrix	brain
47	chr10:18901600-18916400	Weak transcription	Fetal Muscle Leg	muscle
48	chr10:18902200-18916400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:18902400-18916200	Weak transcription	Fetal Stomach	stomach
50	chr10:18902400-18916400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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