Variant report

Variant	esv1800545
Chromosome Location	chr10:43574936-43591057
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:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43520346..43523029-chr10:43587909..43590894,3	MCF-7	breast:
2	chr10:43521523..43522449-chr10:43577293..43578240,8	MCF-7	breast:
3	chr10:43523482..43525302-chr10:43587306..43589145,2	MCF-7	breast:
4	chr10:43578754..43580371-chr10:43586605..43589212,2	MCF-7	breast:
5	chr10:43476676..43477639-chr10:43581673..43582410,2	MCF-7	breast:
6	chr10:43363801..43367756-chr10:43571423..43575718,4	MCF-7	breast:
7	chr10:43533504..43534088-chr10:43577355..43578166,2	MCF-7	breast:
8	chr10:43521600..43522503-chr10:43589625..43590206,2	MCF-7	breast:
9	chr10:43576471..43578600-chr10:43587847..43590261,2	MCF-7	breast:
10	chr10:43575206..43579107-chr10:43583018..43585750,4	K562	blood:
11	chr10:43571954..43575948-chr10:43588456..43593172,4	MCF-7	breast:
12	chr10:43578198..43579973-chr10:43594655..43597408,2	MCF-7	breast:
13	chr10:43370478..43372425-chr10:43586111..43588010,2	MCF-7	breast:
14	chr10:43576417..43579207-chr10:43590495..43592572,2	MCF-7	breast:
15	chr10:43521855..43522376-chr10:43577254..43578134,2	MCF-7	breast:
16	chr10:43585387..43587338-chr10:43587452..43589523,2	K562	blood:
17	chr10:43521617..43522540-chr10:43581453..43582423,6	MCF-7	breast:
18	chr10:43574755..43578524-chr10:43632183..43633949,3	MCF-7	breast:
19	chr10:43574441..43574987-chr10:43601035..43601611,2	K562	blood:
20	chr10:43575206..43579107-chr10:43583018..43585750,4	K562	blood:
21	chr10:43583134..43585872-chr10:43588187..43591197,3	MCF-7	breast:
22	chr10:43521611..43522326-chr10:43577256..43578049,6	MCF-7	breast:
23	chr10:43579643..43581967-chr10:43583481..43585726,2	MCF-7	breast:
24	chr10:43563405..43565262-chr10:43578421..43580080,2	K562	blood:
25	chr10:43585387..43587338-chr10:43587452..43589523,2	K562	blood:
26	chr10:43576417..43579207-chr10:43590495..43592572,2	MCF-7	breast:
27	chr10:43361782..43362789-chr10:43574108..43574983,3	K562	blood:
28	chr10:43577015..43578995-chr10:43604341..43606597,2	MCF-7	breast:
29	chr10:43581616..43582507-chr10:43605989..43606921,3	MCF-7	breast:
30	chr10:43578754..43580371-chr10:43586605..43589212,2	MCF-7	breast:
31	chr10:43579643..43581967-chr10:43583481..43585726,2	MCF-7	breast:
32	chr10:43588758..43591392-chr10:43592644..43594640,2	MCF-7	breast:
33	chr10:43589765..43592695-chr10:43600961..43603100,2	MCF-7	breast:
34	chr10:43589175..43591364-chr10:43599200..43601057,2	MCF-7	breast:
35	chr10:43583134..43585872-chr10:43588187..43591197,3	MCF-7	breast:
36	chr10:43587904..43589717-chr10:43600959..43603478,2	MCF-7	breast:
37	chr10:43571757..43578165-chr10:43578692..43585292,10	MCF-7	breast:
38	chr10:43588801..43589617-chr10:43600178..43601154,2	MCF-7	breast:
39	chr10:43576471..43578600-chr10:43587847..43590261,2	MCF-7	breast:
40	chr10:43589023..43591875-chr10:43596909..43598786,2	MCF-7	breast:
41	chr10:43496061..43498951-chr10:43575386..43576961,2	MCF-7	breast:
42	chr10:43476076..43477138-chr10:43577286..43578259,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273008	chromatin interactions
ENSG00000165731	chromatin interactions
ENSG00000234944	chromatin interactions
ENSG00000229630	chromatin interactions
ENSG00000169826	chromatin interactions

Extended variants
information (count: 667 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2506011	chr10:43574936-43574937	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142898999	chr10:43574944-43574945	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs572776499	chr10:43574960-43574961	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs191618715	chr10:43574972-43574973	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs558635450	chr10:43574980-43574981	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs529123820	chr10:43575049-43575050	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs549042819	chr10:43575058-43575059	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs548052097	chr10:43575086-43575087	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs568896160	chr10:43575119-43575120	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs562632352	chr10:43575142-43575143	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs560976025	chr10:43575143-43575144	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs147328350	chr10:43575197-43575198	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs141018343	chr10:43575217-43575218	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs527667883	chr10:43575247-43575248	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs530090350	chr10:43575256-43575257	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs117193730	chr10:43575271-43575272	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs531654612	chr10:43575272-43575273	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs537842269	chr10:43575281-43575282	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs568314459	chr10:43575300-43575301	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs11239874	chr10:43575326-43575327	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550048557	chr10:43575344-43575345	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs554030577	chr10:43575358-43575359	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs373337525	chr10:43575410-43575411	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs376847219	chr10:43575426-43575427	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs1897002	chr10:43575445-43575446	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533804841	chr10:43575466-43575467	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs557512991	chr10:43575482-43575483	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs184999140	chr10:43575528-43575529	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs576880720	chr10:43575558-43575559	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs144232297	chr10:43575589-43575590	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs1864411	chr10:43575599-43575600	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs10900298	chr10:43575614-43575615	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1864410	chr10:43575625-43575626	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147015105	chr10:43575643-43575644	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs2506012	chr10:43575672-43575673	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs555283625	chr10:43575685-43575686	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs367828649	chr10:43575812-43575813	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs77154599	chr10:43575837-43575838	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564316745	chr10:43575862-43575863	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs1864409	chr10:43575872-43575873	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1864408	chr10:43575883-43575884	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555452900	chr10:43575892-43575893	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs188369909	chr10:43575922-43575923	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs193196427	chr10:43575927-43575928	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs547648791	chr10:43575939-43575940	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566365213	chr10:43575945-43575946	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs576880486	chr10:43575992-43575993	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs185202959	chr10:43576065-43576066	Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs147767633	chr10:43576086-43576087	Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs552190623	chr10:43576092-43576093	Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43573400-43576800	Weak transcription	Pancreas	Pancrea
2	chr10:43573400-43577000	Weak transcription	Gastric	stomach
3	chr10:43573600-43575400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
4	chr10:43573600-43591800	Weak transcription	Right Atrium	heart
5	chr10:43574200-43578200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr10:43574400-43575000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr10:43574400-43575200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr10:43574600-43580800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:43574800-43575000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
10	chr10:43574800-43575600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:43574800-43578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:43574800-43580800	Enhancers	Primary hematopoietic stem cells	blood
13	chr10:43575000-43575600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr10:43575400-43575600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:43575400-43576400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr10:43575600-43576000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:43575600-43576200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:43575800-43576000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:43576000-43576400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:43576200-43577600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr10:43576200-43579000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr10:43576400-43576600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr10:43576400-43577600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:43576800-43579000	Enhancers	Pancreas	Pancrea
25	chr10:43577000-43578600	Enhancers	Gastric	stomach
26	chr10:43577200-43579600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr10:43577400-43579000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr10:43577400-43579600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr10:43577600-43577800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr10:43577600-43577800	Enhancers	Spleen	Spleen
31	chr10:43577600-43578400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr10:43577600-43578600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr10:43577600-43579000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:43578000-43578600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:43578000-43578600	Bivalent Enhancer	Placenta	Placenta
36	chr10:43578000-43579200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:43578200-43579200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr10:43578400-43578600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr10:43578400-43578600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr10:43578400-43578600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
41	chr10:43578400-43579000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr10:43578400-43580600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr10:43578600-43579200	Bivalent Enhancer	Fetal Stomach	stomach
44	chr10:43578600-43585400	Weak transcription	Gastric	stomach
45	chr10:43578800-43579000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr10:43578800-43579000	Bivalent Enhancer	Adipose Nuclei	Adipose
47	chr10:43578800-43579600	Enhancers	Fetal Thymus	thymus
48	chr10:43579000-43579400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr10:43579000-43580200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:43579000-43584200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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