Variant report

Variant	esv10395
Chromosome Location	chr2:234766962-234770708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:234766312-234767134	K562	blood:	n/a	n/a
2	BCL3	chr2:234766927-234767320	GM12878	blood:	n/a	n/a
3	CTCF	chr2:234767180-234767330	GM06990	blood:	n/a	n/a
4	CTCF	chr2:234765917-234767503	A549	lung:	n/a	chr2:234766286-234766299 chr2:234766285-234766301 chr2:234766279-234766300 chr2:234766695-234766713 chr2:234766697-234766718 chr2:234766284-234766302
5	CTCF	chr2:234767180-234767330	GM12873	blood:	n/a	n/a
6	EP300	chr2:234766007-234767049	A549	lung:	n/a	chr2:234766649-234766663
7	EP300	chr2:234765983-234766979	A549	lung:	n/a	chr2:234766649-234766663
8	GATA3	chr2:234766026-234767027	A549	lung:	n/a	chr2:234766186-234766193 chr2:234766408-234766419 chr2:234766688-234766695
9	IRF1	chr2:234767095-234767104	K562	blood:	n/a	n/a
10	RAD21	chr2:234766028-234767112	A549	lung:	n/a	chr2:234766696-234766715 chr2:234766284-234766296 chr2:234766282-234766301
11	SP1	chr2:234765959-234766992	A549	lung:	n/a	n/a
12	TCF12	chr2:234765969-234766964	A549	lung:	n/a	n/a
13	ZNF384	chr2:234767325-234767424	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234764614..234767781-chr2:234770318..234773555,4	MCF-7	breast:
2	chr2:234765045..234768392-chr2:234769046..234775688,6	K562	blood:
3	chr2:234765045..234768392-chr2:234769046..234775688,6	K562	blood:
4	chr2:234768404..234771123-chr2:234772498..234774550,2	K562	blood:
5	chr2:234768126..234770325-chr2:234779679..234781958,2	K562	blood:
6	chr2:234764614..234767781-chr2:234770318..234773555,4	MCF-7	breast:
7	chr2:234766693..234769626-chr2:234773837..234776124,2	MCF-7	breast:
8	chr2:234763499..234765002-chr2:234766647..234768306,2	MCF-7	breast:
9	chr2:234766402..234767150-chr2:236015497..236016002,2	K562	blood:

Variant related genes	Relation type
HJURP	TF binding region

Extended variants
information (count: 150 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs499703	chr2:234766994-234766995	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185443938	chr2:234767012-234767013	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs149855536	chr2:234767022-234767023	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs556755546	chr2:234767038-234767039	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573798349	chr2:234767050-234767051	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs190637066	chr2:234767057-234767058	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs368897812	chr2:234767058-234767059	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs1392606	chr2:234767079-234767080	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573525955	chr2:234767085-234767086	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs180697663	chr2:234767102-234767103	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs397844437	chr2:234767127-234767128	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs498680	chr2:234767128-234767129	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11563012	chr2:234767130-234767131	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs28900719	chr2:234767178-234767179	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561191663	chr2:234767226-234767227	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs530115094	chr2:234767254-234767255	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs185222631	chr2:234767319-234767320	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs35914249	chr2:234767322-234767323	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566670974	chr2:234767369-234767370	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs2650888	chr2:234767398-234767399	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs60869280	chr2:234767430-234767431	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76208438	chr2:234767433-234767434	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs74594919	chr2:234767449-234767450	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs55918008	chr2:234767451-234767452	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs145051991	chr2:234767453-234767454	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs76948269	chr2:234767454-234767455	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs140277295	chr2:234767455-234767456	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs13410024	chr2:234767481-234767482	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs13410032	chr2:234767489-234767490	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs35862779	chr2:234767493-234767494	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs556901522	chr2:234767510-234767511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567300162	chr2:234767541-234767542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369909274	chr2:234767570-234767571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs494812	chr2:234767571-234767572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573433769	chr2:234767574-234767575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545585558	chr2:234767604-234767605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558957349	chr2:234767613-234767614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188526788	chr2:234767631-234767632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373164529	chr2:234767684-234767685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544610814	chr2:234767694-234767695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147945431	chr2:234767711-234767712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76563224	chr2:234767747-234767748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs658607	chr2:234767759-234767760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs581377	chr2:234767789-234767790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576869049	chr2:234767815-234767816	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144442070	chr2:234767858-234767859	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560217126	chr2:234767892-234767893	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75171028	chr2:234767898-234767899	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528245650	chr2:234767926-234767927	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs658054	chr2:234767934-234767935	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234763600-234776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:234763800-234774600	Weak transcription	Placenta	Placenta
3	chr2:234763800-234774800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:234763800-234775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:234763800-234775400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:234763800-234776600	Weak transcription	Right Ventricle	heart
7	chr2:234764000-234774400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:234764000-234775200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:234764000-234776400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:234764000-234776600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:234764000-234776600	Weak transcription	HUVEC	blood vessel
12	chr2:234764200-234770800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:234764200-234771000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:234764200-234773000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:234764200-234774200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:234764200-234774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:234764200-234774600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:234764200-234774800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:234764200-234774800	Weak transcription	Osteobl	bone
20	chr2:234764200-234775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:234764200-234775200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:234764200-234776600	Weak transcription	Primary B cells from cord blood	blood
23	chr2:234764200-234776600	Weak transcription	Primary T cells from cord blood	blood
24	chr2:234764200-234776600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:234764200-234776600	Weak transcription	HMEC	breast
26	chr2:234764200-234776600	Weak transcription	NH-A	brain
27	chr2:234764200-234776600	Weak transcription	NHDF-Ad	bronchial
28	chr2:234764200-234776600	Weak transcription	NHEK	skin
29	chr2:234764200-234776800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:234764400-234774400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:234764400-234774400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:234764400-234774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:234764400-234775000	Weak transcription	NHLF	lung
34	chr2:234764400-234776400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:234764400-234776600	Weak transcription	HSMM	muscle
36	chr2:234766000-234767000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:234766000-234767400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:234766800-234767200	Weak transcription	K562	blood
39	chr2:234766800-234767600	Enhancers	A549	lung
40	chr2:234766800-234768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:234767000-234776600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:234767200-234767400	Enhancers	K562	blood
43	chr2:234767400-234774400	Weak transcription	K562	blood
44	chr2:234767600-234767800	Weak transcription	A549	lung
45	chr2:234767800-234768000	Genic enhancers	A549	lung
46	chr2:234768000-234772600	Weak transcription	A549	lung
47	chr2:234768800-234771000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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