Variant report

Variant	esv3348415
Chromosome Location	chr1:46462610-46463056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46460934..46463344-chr1:46463620..46465270,2	MCF-7	breast:
2	chr1:46451252..46453571-chr1:46462523..46464320,2	K562	blood:
3	chr1:46457031..46460006-chr1:46461254..46463100,2	K562	blood:
4	chr1:46461020..46463343-chr1:46476267..46478373,2	K562	blood:
5	chr1:46460300..46463881-chr1:46464665..46468860,3	K562	blood:

Variant related genes	Relation type
ENSG00000086015	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569934610	chr1:46462648-46462649	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575127099	chr1:46462651-46462652	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531073868	chr1:46462661-46462662	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7549798	chr1:46462669-46462670	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567694887	chr1:46462682-46462683	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555670999	chr1:46462767-46462768	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187463461	chr1:46462784-46462785	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192268828	chr1:46462795-46462796	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565597327	chr1:46462864-46462865	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368408627	chr1:46462876-46462877	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4073846	chr1:46462881-46462882	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs557957128	chr1:46462901-46462902	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185655279	chr1:46462932-46462933	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188817210	chr1:46462972-46462973	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529702099	chr1:46462975-46462976	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147729066	chr1:46462976-46462977	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573977955	chr1:46462988-46462989	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192532006	chr1:46463010-46463011	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs4073847	chr1:46463012-46463013	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46436200-46468800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:46438200-46471400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:46438400-46466200	Weak transcription	Left Ventricle	heart
4	chr1:46438600-46463200	Weak transcription	Fetal Heart	heart
5	chr1:46438600-46464000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:46438600-46464800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:46438600-46468600	Weak transcription	Fetal Brain Female	brain
8	chr1:46440000-46465000	Weak transcription	Dnd41	blood
9	chr1:46441000-46463200	Weak transcription	HSMM	muscle
10	chr1:46441400-46467200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:46445600-46467800	Weak transcription	Colonic Mucosa	Colon
12	chr1:46445600-46472000	Weak transcription	A549	lung
13	chr1:46445600-46475600	Weak transcription	Stomach Mucosa	stomach
14	chr1:46446600-46463200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:46446600-46464000	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:46446600-46464600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:46446800-46463200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:46447200-46468400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:46448000-46464400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:46448200-46465000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:46448400-46464800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:46448400-46472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:46448800-46464600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:46448800-46465000	Weak transcription	Fetal Stomach	stomach
25	chr1:46448800-46470400	Weak transcription	Fetal Lung	lung
26	chr1:46450400-46468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:46453600-46472000	Weak transcription	Primary T cells from cord blood	blood
28	chr1:46454000-46465000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:46454000-46466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:46455000-46471600	Weak transcription	Lung	lung
31	chr1:46455400-46471200	Weak transcription	Aorta	Aorta
32	chr1:46456000-46463400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:46456600-46464600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:46456600-46466600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:46457000-46466600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:46457000-46472800	Weak transcription	Small Intestine	intestine
37	chr1:46457800-46468400	Weak transcription	Fetal Intestine Small	intestine
38	chr1:46458200-46464800	Weak transcription	Fetal Intestine Large	intestine
39	chr1:46458200-46465000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:46458600-46471400	Weak transcription	Primary B cells from cord blood	blood
41	chr1:46459800-46471000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:46460000-46462800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:46460000-46464800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:46460200-46466000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:46460400-46466600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:46460400-46471800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:46460600-46463000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:46460600-46464200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:46461000-46474000	Weak transcription	NH-A	brain
50	chr1:46461400-46464000	Weak transcription	K562	blood

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