Variant report

Variant	esv2571464
Chromosome Location	chr1:67200525-67202090
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	CEBPB	chr1:67200670-67200719	K562	blood:	n/a	n/a
2	ZNF274	chr1:67201818-67202259	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67195090..67197829-chr1:67199075..67200938,2	K562	blood:
2	chr1:67195090..67196807-chr1:67198511..67200575,2	K562	blood:

Variant related genes	Relation type
ENSG00000221655	TF binding region
ENSG00000221655	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527918563	chr1:67200584-67200585	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143761729	chr1:67200585-67200586	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1315998	chr1:67200610-67200611	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188727583	chr1:67200617-67200618	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555014353	chr1:67200625-67200626	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568842709	chr1:67200683-67200684	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537508138	chr1:67200709-67200710	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367954267	chr1:67200720-67200721	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557855899	chr1:67200773-67200774	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201224913	chr1:67200790-67200791	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577393858	chr1:67200803-67200804	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148712819	chr1:67200805-67200806	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138497035	chr1:67200854-67200855	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200113354	chr1:67200869-67200870	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs199562593	chr1:67200877-67200878	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111552667	chr1:67200878-67200879	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140369541	chr1:67200879-67200880	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377211197	chr1:67200880-67200881	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573553067	chr1:67200914-67200915	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542524327	chr1:67200916-67200917	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562707471	chr1:67200961-67200962	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192849312	chr1:67200968-67200969	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545153409	chr1:67200986-67200987	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144059502	chr1:67201001-67201002	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527881903	chr1:67201029-67201030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116572881	chr1:67201141-67201142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113921853	chr1:67201142-67201143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139405750	chr1:67201143-67201144	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371515600	chr1:67201222-67201223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550464437	chr1:67201309-67201310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568729857	chr1:67201351-67201352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537874496	chr1:67201396-67201397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377501733	chr1:67201409-67201410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571050191	chr1:67201410-67201411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146725001	chr1:67201536-67201537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533644592	chr1:67201557-67201558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553511424	chr1:67201616-67201617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17097270	chr1:67201650-67201651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183401222	chr1:67201698-67201699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556451762	chr1:67201708-67201709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568139007	chr1:67201717-67201718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs487833	chr1:67201738-67201739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs187938615	chr1:67201842-67201843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374192629	chr1:67201884-67201885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376311548	chr1:67201885-67201886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565377700	chr1:67201901-67201902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74735413	chr1:67201937-67201938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191605663	chr1:67201946-67201947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12085023	chr1:67202003-67202004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541544968	chr1:67202025-67202026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67157000-67208800	Weak transcription	Brain Germinal Matrix	brain
2	chr1:67165400-67206800	Weak transcription	Fetal Brain Male	brain
3	chr1:67186400-67205000	Weak transcription	Fetal Heart	heart
4	chr1:67188600-67217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:67190200-67201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:67191800-67204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:67191800-67204800	Weak transcription	Lung	lung
8	chr1:67192000-67204600	Weak transcription	Aorta	Aorta
9	chr1:67192000-67204800	Weak transcription	Left Ventricle	heart
10	chr1:67192000-67217200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:67192000-67217400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:67192200-67204600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:67192200-67208200	Weak transcription	Brain Substantia Nigra	brain
14	chr1:67192400-67204200	Weak transcription	Brain Anterior Caudate	brain
15	chr1:67196600-67212800	Weak transcription	Fetal Brain Female	brain
16	chr1:67197000-67201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:67197000-67217600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:67197600-67204600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:67198200-67203800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:67199200-67204600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:67199600-67203000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:67199600-67203600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:67199600-67204000	Weak transcription	NHDF-Ad	bronchial
24	chr1:67199600-67204800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:67199600-67205000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:67199600-67205200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:67199600-67205600	Weak transcription	NHLF	lung
28	chr1:67199600-67206400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:67199800-67205000	Weak transcription	Dnd41	blood
30	chr1:67199800-67205000	Weak transcription	Osteobl	bone
31	chr1:67200000-67201200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:67201200-67203000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:67201200-67203400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:67201200-67203600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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