Variant report

Variant	esv3340025
Chromosome Location	chr1:46950190-46952738
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46946915..46950728-chr1:46952343..46956054,5	K562	blood:
2	chr1:46948519..46951026-chr1:47010382..47012141,2	K562	blood:
3	chr1:46950781..46953808-chr1:46958999..46962653,3	K562	blood:
4	chr1:46942594..46944791-chr1:46952601..46954652,2	K562	blood:
5	chr1:46946915..46950728-chr1:46952343..46956054,5	K562	blood:
6	chr1:46943291..46946186-chr1:46950326..46954101,3	K562	blood:
7	chr1:46950640..46959255-chr1:46986389..46991936,15	K562	blood:
8	chr1:46949358..46952077-chr1:46954011..46956367,2	K562	blood:
9	chr1:46952733..46954545-chr1:46992927..46994561,12	K562	blood:

No data

Extended variants
information (count: 83 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4660352	chr1:46950238-46950239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543873590	chr1:46950327-46950328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561927605	chr1:46950333-46950334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141987940	chr1:46950344-46950345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185484722	chr1:46950358-46950359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540370948	chr1:46950427-46950428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111974350	chr1:46950477-46950478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369869083	chr1:46950478-46950479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533382472	chr1:46950479-46950480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114830204	chr1:46950485-46950486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570047064	chr1:46950551-46950552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531098844	chr1:46950614-46950615	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12058933	chr1:46950659-46950660	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115702336	chr1:46950693-46950694	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535385089	chr1:46950694-46950695	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114857182	chr1:46950708-46950709	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545823893	chr1:46950730-46950731	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188594077	chr1:46950854-46950855	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146307827	chr1:46950864-46950865	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557969763	chr1:46950913-46950914	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576446991	chr1:46950945-46950946	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543738676	chr1:46950967-46950968	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555591235	chr1:46950972-46950973	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562529671	chr1:46950996-46950997	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193264189	chr1:46950999-46951000	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531541162	chr1:46951026-46951027	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559618969	chr1:46951048-46951049	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12733479	chr1:46951059-46951060	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531117503	chr1:46951077-46951078	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12733520	chr1:46951106-46951107	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373180785	chr1:46951149-46951150	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545236337	chr1:46951160-46951161	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148527281	chr1:46951248-46951249	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530961771	chr1:46951266-46951267	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549273352	chr1:46951361-46951362	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72892772	chr1:46951397-46951398	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548075299	chr1:46951417-46951418	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547350728	chr1:46951483-46951484	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377610670	chr1:46951607-46951608	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370342590	chr1:46951609-46951610	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565673941	chr1:46951626-46951627	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113806735	chr1:46951627-46951628	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539532690	chr1:46951683-46951684	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12402045	chr1:46951684-46951685	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569870688	chr1:46951691-46951692	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537203801	chr1:46951741-46951742	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555390559	chr1:46951773-46951774	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573858323	chr1:46951785-46951786	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72679834	chr1:46951789-46951790	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184169486	chr1:46951824-46951825	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
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
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
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
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46933200-46955000	Weak transcription	Right Atrium	heart
2	chr1:46946000-46951200	Enhancers	K562	blood
3	chr1:46950000-46950200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:46950600-46951000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr1:46950600-46951000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
6	chr1:46950600-46951000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr1:46950600-46951000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr1:46950600-46951000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr1:46950600-46951000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:46950600-46951200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr1:46950600-46951400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:46950600-46951400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:46950800-46951000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:46951000-46951200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr1:46951000-46951200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:46951000-46951200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr1:46951000-46951200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr1:46951000-46951600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:46951000-46951800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr1:46951000-46951800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:46951000-46951800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr1:46951000-46951800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:46951000-46951800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr1:46951000-46952000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:46951000-46952000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:46951200-46951600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr1:46951200-46951800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:46951200-46951800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:46951200-46951800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr1:46951200-46952000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:46951200-46952800	Weak transcription	K562	blood
32	chr1:46951200-46957200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:46951400-46951600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:46951400-46951600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:46951400-46951800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:46951400-46951800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
37	chr1:46951400-46951800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:46951400-46951800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:46951400-46951800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:46951400-46951800	Bivalent Enhancer	Fetal Brain Male	brain
41	chr1:46951600-46951800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:46951600-46951800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:46951600-46951800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:46951600-46951800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr1:46951600-46951800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:46951600-46951800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr1:46951600-46951800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr1:46951600-46951800	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr1:46951600-46951800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr1:46951600-46952000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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