Variant report

Variant	esv11591
Chromosome Location	chr10:27117697-27135748
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:27131106..27133856-chr10:27141673..27144502,2	MCF-7	breast:
2	chr10:27128201..27132889-chr10:27148380..27152470,5	K562	blood:
3	chr10:27123445..27125440-chr10:27148045..27150614,2	MCF-7	breast:
4	chr10:27134235..27137117-chr10:27142370..27144378,2	K562	blood:
5	chr10:27130680..27133972-chr10:27147715..27151504,4	K562	blood:
6	chr10:27098403..27099996-chr10:27130981..27133692,2	K562	blood:
7	chr10:27135636..27137752-chr10:27138213..27139984,2	MCF-7	breast:
8	chr10:27125897..27127409-chr10:27129150..27132076,2	MCF-7	breast:
9	chr10:27125897..27127409-chr10:27129150..27132076,2	MCF-7	breast:
10	chr10:27135138..27138155-chr10:27148362..27151068,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136754	chromatin interactions

Extended variants
information (count: 767 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574118649	chr10:27117697-27117698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10829077	chr10:27117701-27117702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553613086	chr10:27117717-27117718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182136622	chr10:27117742-27117743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545577343	chr10:27117746-27117747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540559170	chr10:27117797-27117798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565478938	chr10:27117824-27117825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530985263	chr10:27117825-27117826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187655788	chr10:27117864-27117865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2148111	chr10:27117878-27117879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543516238	chr10:27117884-27117885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576628880	chr10:27117912-27117913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191926421	chr10:27117927-27117928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183795013	chr10:27117930-27117931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532308682	chr10:27117931-27117932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187289669	chr10:27117947-27117948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568729306	chr10:27117951-27117952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57377016	chr10:27117970-27117971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537523189	chr10:27117971-27117972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547861016	chr10:27117983-27117984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568099566	chr10:27117984-27117985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533770635	chr10:27117985-27117986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553532913	chr10:27117991-27117992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573434406	chr10:27118048-27118049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538971824	chr10:27118063-27118064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561801179	chr10:27118086-27118087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552434156	chr10:27118089-27118090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575930633	chr10:27118109-27118110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544846633	chr10:27118110-27118111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561358744	chr10:27118186-27118187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574884098	chr10:27118219-27118220	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114074713	chr10:27118221-27118222	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs11015320	chr10:27118227-27118228	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532404243	chr10:27118282-27118283	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs144808181	chr10:27118363-27118364	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs529771701	chr10:27118422-27118423	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562472494	chr10:27118536-27118537	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs190198189	chr10:27118540-27118541	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs12764628	chr10:27118560-27118561	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138657363	chr10:27118584-27118585	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567563773	chr10:27118664-27118665	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78431134	chr10:27118673-27118674	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs560140211	chr10:27118675-27118676	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182420308	chr10:27118722-27118723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570367951	chr10:27118723-27118724	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs527969558	chr10:27118793-27118794	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112552844	chr10:27118812-27118813	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539310874	chr10:27118876-27118877	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559270263	chr10:27118906-27118907	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576040242	chr10:27118911-27118912	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	17440070	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute myeloid leukemia	20824076	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27085600-27119000	Weak transcription	Fetal Lung	lung
2	chr10:27095000-27130600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:27095000-27138600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:27095200-27119000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr10:27095400-27129800	Weak transcription	NHEK	skin
6	chr10:27095600-27129000	Weak transcription	Right Atrium	heart
7	chr10:27095600-27132600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:27095600-27148800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:27097200-27120000	Weak transcription	HepG2	liver
10	chr10:27099800-27128800	Weak transcription	K562	blood
11	chr10:27101800-27129000	Weak transcription	Stomach Mucosa	stomach
12	chr10:27104800-27119200	Weak transcription	Esophagus	oesophagus
13	chr10:27104800-27129200	Weak transcription	Colonic Mucosa	Colon
14	chr10:27105000-27122000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:27106600-27119000	Weak transcription	Thymus	Thymus
16	chr10:27106600-27122000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:27107000-27129000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:27107400-27129000	Weak transcription	Spleen	Spleen
19	chr10:27108000-27120600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:27109400-27132600	Weak transcription	HMEC	breast
21	chr10:27110000-27130400	Weak transcription	HUVEC	blood vessel
22	chr10:27111400-27125200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:27111600-27118800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:27111800-27118200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr10:27111800-27118600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr10:27111800-27129000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:27111800-27129200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr10:27111800-27147000	Weak transcription	Fetal Intestine Large	intestine
29	chr10:27112000-27118200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:27112000-27118800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:27112000-27119400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:27112000-27121000	Weak transcription	NHDF-Ad	bronchial
33	chr10:27112000-27122000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:27112000-27126000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr10:27112000-27128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:27112000-27130400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr10:27112200-27118200	Weak transcription	GM12878-XiMat	blood
38	chr10:27112200-27118600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr10:27112200-27118600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:27112200-27119200	Weak transcription	Fetal Thymus	thymus
41	chr10:27112200-27121000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:27112200-27121600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr10:27112400-27129000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:27112600-27118600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr10:27112600-27118800	Weak transcription	Dnd41	blood
46	chr10:27112800-27120800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr10:27112800-27121600	Weak transcription	Left Ventricle	heart
48	chr10:27112800-27125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:27112800-27129000	Weak transcription	Primary B cells from cord blood	blood
50	chr10:27112800-27129000	Weak transcription	Brain Anterior Caudate	brain

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