Variant report

Variant	esv3406025
Chromosome Location	chr1:45739908-45763848
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:27)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45761061..45765465-chr1:45766442..45769712,4	MCF-7	breast:
2	chr1:45761163..45763441-chr1:45763531..45765423,2	K562	blood:
3	chr1:45747190..45749487-chr1:45762522..45764661,3	K562	blood:
4	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
5	chr1:45763106..45764734-chr1:45769949..45772250,2	MCF-7	breast:
6	chr1:45763746..45766388-chr1:45768053..45771001,2	MCF-7	breast:
7	chr1:45761540..45764503-chr1:45766248..45768946,2	K562	blood:
8	chr1:45483055..45484838-chr1:45740397..45743390,2	K562	blood:
9	chr1:45747656..45749487-chr1:45762522..45765596,3	K562	blood:
10	chr1:45476319..45479273-chr1:45762744..45765021,2	MCF-7	breast:
11	chr1:45731206..45733732-chr1:45740746..45742362,2	K562	blood:
12	chr1:45735576..45737147-chr1:45740278..45742078,2	K562	blood:
13	chr1:45761163..45763441-chr1:45763531..45765423,2	K562	blood:
14	chr1:45184599..45187885-chr1:45762943..45766358,4	K562	blood:
15	chr1:45445644..45447946-chr1:45746715..45748640,2	K562	blood:
16	chr1:45739847..45742419-chr1:45763606..45766458,2	K562	blood:
17	chr1:45739886..45742264-chr1:45977045..45978670,2	K562	blood:
18	chr1:45747656..45749487-chr1:45762522..45765596,3	K562	blood:
19	chr1:45756933..45758729-chr1:45768463..45770390,2	K562	blood:
20	chr1:45761109..45763795-chr1:45769192..45770940,3	K562	blood:
21	chr1:45739847..45742419-chr1:45763606..45766458,2	K562	blood:
22	chr1:45284741..45287398-chr1:45762792..45766811,5	K562	blood:
23	chr1:45747190..45749487-chr1:45762522..45764661,3	K562	blood:
24	chr1:45739797..45741370-chr1:45746426..45748499,2	K562	blood:
25	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:
26	chr1:45266060..45268077-chr1:45763524..45765330,2	K562	blood:
27	chr1:45739797..45741370-chr1:45746426..45748499,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUTYH-1	chr1:45762366-45762414	XLOC_000816

No data

Variant related genes	Relation type
ENSG00000126107	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000173846	chromatin interactions

Extended variants
information (count: 621 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531309473	chr1:45739915-45739916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144583348	chr1:45739954-45739955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34508838	chr1:45739972-45739973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184926615	chr1:45740013-45740014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571241047	chr1:45740014-45740015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533813559	chr1:45740018-45740019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1938296	chr1:45740107-45740108	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189735415	chr1:45740108-45740109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532348681	chr1:45740185-45740186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530033603	chr1:45740192-45740193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116485143	chr1:45740211-45740212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142672824	chr1:45740285-45740286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575767357	chr1:45740291-45740292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553098927	chr1:45740320-45740321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551968730	chr1:45740333-45740334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537971097	chr1:45740335-45740336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568960051	chr1:45740340-45740341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558263902	chr1:45740380-45740381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181025146	chr1:45740407-45740408	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs1938297	chr1:45740469-45740470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs560487336	chr1:45740532-45740533	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs147349468	chr1:45740543-45740544	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs116279894	chr1:45740557-45740558	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139501333	chr1:45740574-45740575	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185434856	chr1:45740622-45740623	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs191562602	chr1:45740626-45740627	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554104573	chr1:45740628-45740629	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs565040074	chr1:45740636-45740637	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs527386370	chr1:45740652-45740653	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546998931	chr1:45740658-45740659	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs143497082	chr1:45740694-45740695	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535770596	chr1:45740700-45740701	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs4603171	chr1:45740701-45740702	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569436012	chr1:45740723-45740724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536523288	chr1:45740736-45740737	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553270384	chr1:45740751-45740752	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs538459916	chr1:45740798-45740799	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183343282	chr1:45740801-45740802	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578076750	chr1:45740913-45740914	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76691225	chr1:45741027-45741028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11809934	chr1:45741052-45741053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539250441	chr1:45741066-45741067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377132395	chr1:45741067-45741068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574054602	chr1:45741269-45741270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367761972	chr1:45741305-45741306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150544291	chr1:45741427-45741428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372219828	chr1:45741503-45741504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562830282	chr1:45741543-45741544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576256523	chr1:45741549-45741550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545229715	chr1:45741559-45741560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

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
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45732400-45740600	Weak transcription	Stomach Mucosa	stomach
2	chr1:45732400-45748000	Weak transcription	Right Atrium	heart
3	chr1:45733400-45740800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:45736800-45740200	Weak transcription	HepG2	liver
5	chr1:45737800-45740600	Weak transcription	K562	blood
6	chr1:45738400-45741800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:45739200-45740600	Weak transcription	Hela-S3	cervix
8	chr1:45739400-45740800	Weak transcription	HUVEC	blood vessel
9	chr1:45739400-45741800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:45739600-45740800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:45739800-45741000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:45740000-45741000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:45740200-45740400	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:45740200-45740600	Enhancers	Brain Hippocampus Middle	brain
15	chr1:45740200-45741400	Enhancers	Brain Substantia Nigra	brain
16	chr1:45740200-45741600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:45740200-45741800	Enhancers	HepG2	liver
18	chr1:45740400-45740600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:45740400-45740800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:45740400-45740800	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr1:45740400-45741000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:45740400-45741000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:45740400-45741000	Enhancers	Brain Angular Gyrus	brain
24	chr1:45740600-45740800	Enhancers	K562	blood
25	chr1:45740600-45741000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:45740600-45741000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:45740600-45741000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:45740600-45741000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:45740600-45741000	Enhancers	Brain Anterior Caudate	brain
30	chr1:45740600-45741000	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr1:45740600-45741000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr1:45740600-45741000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:45740600-45741000	Enhancers	Stomach Mucosa	stomach
34	chr1:45740600-45741000	Enhancers	Hela-S3	cervix
35	chr1:45740600-45741200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:45740600-45741800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr1:45740800-45741000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr1:45740800-45741000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr1:45740800-45741000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:45740800-45741000	Enhancers	HUVEC	blood vessel
41	chr1:45740800-45741400	Enhancers	Fetal Intestine Small	intestine
42	chr1:45741000-45742400	Weak transcription	HUVEC	blood vessel
43	chr1:45741000-45750800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:45741600-45741800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:45741800-45749000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:45747200-45749000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:45747400-45747800	Enhancers	Ovary	ovary
48	chr1:45747600-45748000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:45747600-45748600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr1:45747600-45748600	Enhancers	Primary hematopoietic stem cells	blood

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