Variant report

Variant	esv3407901
Chromosome Location	chr10:4172452-4176750
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:3825013..3827072-chr10:4173983..4175763,2	MCF-7	breast:
2	chr10:4175802..4177739-chr10:4181656..4183522,2	K562	blood:
3	chr10:4173609..4176501-chr10:4189443..4191688,2	MCF-7	breast:
4	chr10:4170399..4173353-chr10:4195678..4198644,2	K562	blood:
5	chr10:3817511..3819980-chr10:4171499..4173614,2	MCF-7	breast:
6	chr10:3827534..3829286-chr10:4172120..4173887,2	MCF-7	breast:
7	chr10:3826628..3829205-chr10:4172781..4176385,4	MCF-7	breast:
8	chr10:4101159..4103691-chr10:4170864..4173275,2	MCF-7	breast:
9	chr10:4164939..4167456-chr10:4170244..4172717,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs75030011	chr10:4172462-4172463	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs554600735	chr10:4172508-4172509	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs569911036	chr10:4172521-4172522	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183930581	chr10:4172577-4172578	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558871927	chr10:4172578-4172579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550648655	chr10:4172628-4172629	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10751962	chr10:4172711-4172712	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541510481	chr10:4172731-4172732	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs10795138	chr10:4172732-4172733	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575123086	chr10:4172765-4172766	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145375034	chr10:4172787-4172788	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563875415	chr10:4172827-4172828	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528024263	chr10:4172870-4172871	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374417343	chr10:4172916-4172917	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533871401	chr10:4172975-4172976	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375153228	chr10:4172978-4172979	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs74114623	chr10:4172984-4172985	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541770376	chr10:4172991-4172992	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566735925	chr10:4172993-4172994	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532096741	chr10:4173029-4173030	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547054409	chr10:4173043-4173044	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565420076	chr10:4173048-4173049	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76146112	chr10:4173067-4173068	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548362286	chr10:4173072-4173073	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533970530	chr10:4173168-4173169	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569861905	chr10:4173178-4173179	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537305640	chr10:4173182-4173183	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368474730	chr10:4173195-4173196	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533382755	chr10:4173198-4173199	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558703072	chr10:4173200-4173201	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150306637	chr10:4173201-4173202	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570826704	chr10:4173258-4173259	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs17132167	chr10:4173280-4173281	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553534676	chr10:4173284-4173285	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574987136	chr10:4173304-4173305	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs17132172	chr10:4173322-4173323	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs377360199	chr10:4173338-4173339	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11398562	chr10:4173372-4173373	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575342745	chr10:4173421-4173422	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111907862	chr10:4173438-4173439	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112451339	chr10:4173450-4173451	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs76877430	chr10:4173453-4173454	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576463248	chr10:4173476-4173477	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540601725	chr10:4173511-4173512	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112560481	chr10:4173588-4173589	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186665312	chr10:4173611-4173612	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548086421	chr10:4173632-4173633	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563470134	chr10:4173652-4173653	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74114624	chr10:4173658-4173659	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375037180	chr10:4173665-4173666	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
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
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4163000-4173400	Weak transcription	NHLF	lung
2	chr10:4167200-4174200	Weak transcription	Pancreas	Pancrea
3	chr10:4169400-4173400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr10:4169400-4175200	Enhancers	Primary B cells from peripheral blood	blood
5	chr10:4169600-4172600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr10:4169600-4172600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr10:4169600-4172800	Enhancers	Primary B cells from cord blood	blood
8	chr10:4169600-4172800	Enhancers	HUVEC	blood vessel
9	chr10:4169600-4173200	Enhancers	Primary hematopoietic stem cells	blood
10	chr10:4169600-4173200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:4170200-4172600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr10:4170600-4172600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:4170600-4172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr10:4170600-4172800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:4170800-4172600	Weak transcription	Primary T cells from cord blood	blood
16	chr10:4170800-4172600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr10:4170800-4172800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:4170800-4172800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:4170800-4172800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:4170800-4173000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr10:4170800-4173200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr10:4170800-4174400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:4171000-4172600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:4171000-4172800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr10:4171000-4172800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr10:4171000-4172800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr10:4171000-4173000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr10:4171000-4173800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:4171200-4172600	Weak transcription	Fetal Lung	lung
30	chr10:4171400-4173200	Enhancers	Right Atrium	heart
31	chr10:4171400-4173800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr10:4171400-4174800	Enhancers	Hela-S3	cervix
33	chr10:4171600-4172800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:4171600-4173400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr10:4171800-4172800	Enhancers	Dnd41	blood
36	chr10:4171800-4173200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr10:4171800-4173200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr10:4171800-4173400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr10:4171800-4174800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:4172000-4173600	Enhancers	Stomach Mucosa	stomach
41	chr10:4172000-4173600	Enhancers	NH-A	brain
42	chr10:4172000-4175000	Enhancers	Osteobl	bone
43	chr10:4172200-4172600	Enhancers	Fetal Muscle Trunk	muscle
44	chr10:4172200-4172800	Enhancers	Placenta	Placenta
45	chr10:4172200-4173600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr10:4172200-4173600	Enhancers	Fetal Muscle Leg	muscle
47	chr10:4172200-4175200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr10:4172200-4175200	Enhancers	Fetal Thymus	thymus
49	chr10:4172400-4172600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:4172400-4172600	Enhancers	Brain Anterior Caudate	brain

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