Variant report

Variant	esv1807863
Chromosome Location	chr10:1021545-1028043
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:974451..976397-chr10:1027362..1028867,2	MCF-7	breast:
2	chr10:1019866..1021574-chr10:1021848..1023502,2	K562	blood:
3	chr10:1020473..1022394-chr10:1030542..1032536,2	K562	blood:
4	chr10:1024974..1028277-chr10:1028484..1030664,3	MCF-7	breast:
5	chr10:1024264..1026844-chr10:1037522..1040068,2	MCF-7	breast:
6	chr10:976040..979233-chr10:1016379..1022615,6	MCF-7	breast:
7	chr10:1018775..1022710-chr10:1032776..1036101,4	K562	blood:
8	chr10:1019967..1021680-chr10:1093563..1096115,2	MCF-7	breast:
9	chr10:1022407..1026665-chr10:1032291..1035293,7	MCF-7	breast:
10	chr10:1019821..1022788-chr10:1029841..1033519,4	MCF-7	breast:
11	chr10:1000614..1004584-chr10:1019814..1022762,4	K562	blood:
12	chr10:1023937..1026356-chr10:1028602..1030529,2	K562	blood:
13	chr10:1019010..1021511-chr10:1021947..1027823,6	MCF-7	breast:
14	chr10:1014806..1016425-chr10:1022937..1025172,2	MCF-7	breast:
15	chr10:975132..982582-chr10:1010670..1022073,17	MCF-7	breast:
16	chr10:1019866..1021574-chr10:1021848..1023502,2	K562	blood:
17	chr10:1000614..1004584-chr10:1019814..1022470,3	K562	blood:
18	chr10:1019761..1022243-chr10:1028840..1032476,4	MCF-7	breast:
19	chr10:1013251..1015818-chr10:1022738..1024636,2	K562	blood:
20	chr10:1024931..1026734-chr10:1099565..1101968,2	MCF-7	breast:
21	chr10:1016732..1019141-chr10:1025032..1027093,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000047056	chromatin interactions
ENSG00000205740	chromatin interactions
ENSG00000067064	chromatin interactions
ENSG00000107937	chromatin interactions
ENSG00000229869	chromatin interactions
ENSG00000107929	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574482346	chr10:1021558-1021559	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs193219140	chr10:1021618-1021619	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs574339672	chr10:1021643-1021644	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs555350339	chr10:1021670-1021671	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs544897586	chr10:1021709-1021710	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs4880747	chr10:1021712-1021713	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs183442733	chr10:1021713-1021714	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs4881545	chr10:1021716-1021717	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs372227685	chr10:1021718-1021719	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs530633089	chr10:1021723-1021724	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs187385364	chr10:1021741-1021742	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs112302392	chr10:1021765-1021766	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs112620894	chr10:1021766-1021767	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs547354124	chr10:1021767-1021768	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs567071256	chr10:1021771-1021772	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs539288018	chr10:1021782-1021783	Enhancers Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs558884977	chr10:1021845-1021846	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs569390114	chr10:1021854-1021855	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs537987920	chr10:1021858-1021859	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs11598980	chr10:1021864-1021865	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs574519447	chr10:1021894-1021895	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs540216964	chr10:1021898-1021899	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs554108815	chr10:1021905-1021906	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs184161231	chr10:1021910-1021911	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs28684619	chr10:1021917-1021918	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs376164165	chr10:1021929-1021930	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs545248362	chr10:1021930-1021931	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs564974496	chr10:1021932-1021933	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs575508186	chr10:1021935-1021936	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs544353538	chr10:1021949-1021950	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs560952603	chr10:1021953-1021954	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs11253547	chr10:1021958-1021959	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs377463609	chr10:1021962-1021963	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs188403354	chr10:1021987-1021988	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs4880748	chr10:1021990-1021991	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs11593285	chr10:1022003-1022004	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs546297344	chr10:1022004-1022005	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs543532251	chr10:1022011-1022012	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs11592380	chr10:1022012-1022013	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs563327605	chr10:1022013-1022014	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs11593794	chr10:1022014-1022015	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs192263708	chr10:1022027-1022028	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs552824626	chr10:1022028-1022029	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs569395525	chr10:1022038-1022039	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs75716380	chr10:1022040-1022041	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs77335520	chr10:1022044-1022045	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs538027033	chr10:1022049-1022050	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs548309619	chr10:1022052-1022053	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs568231310	chr10:1022058-1022059	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs533984515	chr10:1022092-1022093	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:998800-1026200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:1014800-1022400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:1016000-1021600	Enhancers	Stomach Mucosa	stomach
4	chr10:1017000-1022400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr10:1017000-1022600	Weak transcription	Ovary	ovary
6	chr10:1017600-1023800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:1017800-1022600	Weak transcription	HSMM	muscle
8	chr10:1017800-1022600	Weak transcription	NHLF	lung
9	chr10:1017800-1023600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:1017800-1024600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr10:1017800-1024800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr10:1018000-1022400	Weak transcription	Fetal Muscle Leg	muscle
13	chr10:1018000-1022400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:1018000-1023800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr10:1018000-1024400	Weak transcription	Adipose Nuclei	Adipose
16	chr10:1018400-1025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:1019200-1022000	Weak transcription	Lung	lung
18	chr10:1019200-1022200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:1019400-1030800	Weak transcription	Gastric	stomach
20	chr10:1020000-1021800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:1020200-1025000	Weak transcription	Osteobl	bone
22	chr10:1020600-1024600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr10:1020800-1022600	Weak transcription	Fetal Intestine Large	intestine
24	chr10:1021000-1022000	Weak transcription	Fetal Intestine Small	intestine
25	chr10:1021000-1022400	Weak transcription	Pancreas	Pancrea
26	chr10:1021000-1022800	Weak transcription	Fetal Lung	lung
27	chr10:1021400-1023600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:1021600-1029400	Weak transcription	Stomach Mucosa	stomach
29	chr10:1021800-1022200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:1022000-1022200	Enhancers	Lung	lung
31	chr10:1022000-1023000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:1022000-1023000	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr10:1022000-1023200	ZNF genes & repeats	Fetal Stomach	stomach
34	chr10:1022200-1022800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:1022200-1023400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:1022200-1024000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:1022400-1022600	Strong transcription	Fetal Muscle Leg	muscle
38	chr10:1022400-1022600	Weak transcription	A549	lung
39	chr10:1022400-1022800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
40	chr10:1022400-1023000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr10:1022400-1023000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:1022400-1023000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:1022400-1023000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr10:1022400-1023000	Enhancers	Pancreas	Pancrea
45	chr10:1022600-1022800	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr10:1022600-1022800	ZNF genes & repeats	HSMM	muscle
47	chr10:1022600-1023000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr10:1022600-1023000	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr10:1022600-1023000	ZNF genes & repeats	Ovary	ovary
50	chr10:1022600-1023000	ZNF genes & repeats	NHLF	lung

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