Variant report

Variant	esv19010
Chromosome Location	chr1:211686460-211687052
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	chr1:211686791..211692090-chr1:211692436..211697358,7	K562	blood:
2	chr1:211496336..211497406-chr1:211687015..211687898,3	MCF-7	breast:
3	chr1:211679953..211682698-chr1:211686016..211688389,2	K562	blood:
4	chr1:211556040..211557948-chr1:211686154..211688879,2	K562	blood:
5	chr1:211687040..211689418-chr1:211828191..211829226,19	K562	blood:
6	chr1:211432929..211435006-chr1:211685831..211687394,2	K562	blood:
7	chr1:210316536..210317443-chr1:211686960..211687594,2	K562	blood:
8	chr1:211682048..211685729-chr1:211686598..211691532,5	K562	blood:
9	chr1:211433037..211435006-chr1:211684827..211687394,2	K562	blood:
10	chr1:211686187..211688121-chr1:211747912..211750697,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153363	chromatin interactions
ENSG00000117625	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569325698	chr1:211686494-211686495	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs530324885	chr1:211686553-211686554	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs183600264	chr1:211686579-211686580	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567065003	chr1:211686589-211686590	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs10863909	chr1:211686607-211686608	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188586640	chr1:211686620-211686621	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs570376258	chr1:211686631-211686632	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs10863910	chr1:211686672-211686673	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555996756	chr1:211686674-211686675	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574234423	chr1:211686767-211686768	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192045619	chr1:211686791-211686792	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78660253	chr1:211686811-211686812	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs207461063	chr1:211686812-211686813	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571892485	chr1:211686821-211686822	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576381914	chr1:211686822-211686823	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs10863911	chr1:211686860-211686861	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs564377486	chr1:211686935-211686936	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs12127466	chr1:211686950-211686951	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532404665	chr1:211686965-211686966	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544552119	chr1:211686975-211686976	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183932696	chr1:211686977-211686978	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs187642332	chr1:211686980-211686981	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs548159392	chr1:211687014-211687015	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs74138748	chr1:211687016-211687017	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114535955	chr1:211687025-211687026	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs35592294	chr1:211687026-211687027	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs4287239	chr1:211687051-211687052	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211659200-211687600	Weak transcription	Spleen	Spleen
2	chr1:211682400-211687200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:211682400-211687200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:211683800-211686800	Weak transcription	A549	lung
5	chr1:211683800-211687000	Weak transcription	K562	blood
6	chr1:211684400-211687000	Weak transcription	Hela-S3	cervix
7	chr1:211684600-211688800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:211684800-211688600	Enhancers	HMEC	breast
9	chr1:211685000-211687000	Weak transcription	Osteobl	bone
10	chr1:211685000-211687200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:211685400-211687800	Weak transcription	Thymus	Thymus
12	chr1:211685800-211687000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:211685800-211687200	Weak transcription	NH-A	brain
14	chr1:211686000-211690800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:211686200-211687000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:211686200-211687800	Weak transcription	HUVEC	blood vessel
17	chr1:211686400-211686600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:211686400-211686600	Enhancers	Gastric	stomach
19	chr1:211686400-211686800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:211686400-211687800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:211686400-211688200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:211686600-211687600	Weak transcription	Gastric	stomach
23	chr1:211686600-211691000	Enhancers	Stomach Mucosa	stomach
24	chr1:211686800-211687600	Enhancers	A549	lung
25	chr1:211686800-211688400	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:211686800-211688400	Enhancers	Fetal Intestine Large	intestine
27	chr1:211686800-211689000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:211687000-211687200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:211687000-211687400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:211687000-211687400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:211687000-211687400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:211687000-211687600	Enhancers	Hela-S3	cervix
33	chr1:211687000-211687600	Enhancers	Osteobl	bone
34	chr1:211687000-211687800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:211687000-211687800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:211687000-211687800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:211687000-211688000	Enhancers	NHEK	skin
38	chr1:211687000-211688600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:211687000-211688600	Enhancers	K562	blood

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