Variant report

Variant	esv2752443
Chromosome Location	chr1:214939605-215006605
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:214834027..214834925-chr1:214981557..214982784,3	MCF-7	breast:
2	chr1:214977039..214979695-chr1:214980404..214982304,3	MCF-7	breast:
3	chr1:214949050..214950805-chr1:214952893..214955187,2	K562	blood:
4	chr1:214981501..214983168-chr1:215319349..215320262,5	MCF-7	breast:
5	chr1:214986903..214989682-chr1:214990379..214992112,2	K562	blood:
6	chr1:214997869..214999540-chr1:215739725..215741710,2	K562	blood:
7	chr1:214996798..214998880-chr1:215003398..215005711,2	K562	blood:
8	chr1:214977039..214979695-chr1:214980404..214982304,3	MCF-7	breast:
9	chr1:214959246..214960854-chr1:214992460..214995435,2	K562	blood:
10	chr1:214989020..214991888-chr1:214992425..214995415,2	K562	blood:
11	chr1:214981919..214982804-chr1:215690586..215691218,5	MCF-7	breast:
12	chr1:214999141..215002112-chr1:215005373..215009068,3	K562	blood:
13	chr1:214981637..214982339-chr1:215699719..215700718,2	MCF-7	breast:
14	chr1:214981924..214982642-chr1:215319314..215319817,2	MCF-7	breast:
15	chr1:214959246..214960854-chr1:214992460..214995435,2	K562	blood:
16	chr1:214964650..214967515-chr1:214968725..214970577,2	MCF-7	breast:
17	chr1:214999141..215002112-chr1:215005373..215009068,3	K562	blood:
18	chr1:214996798..214998880-chr1:215003398..215005711,2	K562	blood:
19	chr1:214949050..214950805-chr1:214952893..214955187,2	K562	blood:
20	chr1:214975717..214977298-chr1:215304558..215307243,2	MCF-7	breast:
21	chr1:214986903..214989682-chr1:214990379..214992112,2	K562	blood:
22	chr1:214988269..214990823-chr1:215027055..215029577,2	K562	blood:
23	chr1:214989020..214991888-chr1:214992425..214995415,2	K562	blood:
24	chr1:214961510..214963625-chr1:214964294..214966473,3	K562	blood:
25	chr1:214964650..214967515-chr1:214968725..214970577,2	MCF-7	breast:
26	chr1:214943810..214946500-chr1:214950609..214953532,2	K562	blood:
27	chr1:214961510..214963625-chr1:214964294..214966473,3	K562	blood:
28	chr1:214943810..214946500-chr1:214950609..214953532,2	K562	blood:
29	chr1:214981872..214982949-chr1:215249210..215250250,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136636	chromatin interactions

Extended variants
information (count: 576 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:576 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553804344	chr1:214940827-214940828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201883895	chr1:214940833-214940834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141940930	chr1:214940834-214940835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370900329	chr1:214940851-214940852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188014574	chr1:214940855-214940856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138882098	chr1:214940888-214940889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373589388	chr1:214940889-214940890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546047690	chr1:214940904-214940905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12057597	chr1:214940911-214940912	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576639520	chr1:214940937-214940938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542555838	chr1:214940964-214940965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11120394	chr1:214941018-214941019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375547925	chr1:214941091-214941092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547501577	chr1:214941145-214941146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529672270	chr1:214941225-214941226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546619795	chr1:214941264-214941265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560259675	chr1:214941303-214941304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567264727	chr1:214941308-214941309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150070635	chr1:214941309-214941310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192516422	chr1:214941312-214941313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569082932	chr1:214941322-214941323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184423499	chr1:214941366-214941367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11120396	chr1:214941429-214941430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190490744	chr1:214941529-214941530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533906101	chr1:214941533-214941534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553765730	chr1:214941554-214941555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576911445	chr1:214941572-214941573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12022703	chr1:214941595-214941596	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs555742077	chr1:214941612-214941613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576616893	chr1:214941613-214941614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542065390	chr1:214941616-214941617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368546556	chr1:214941620-214941621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372507257	chr1:214941675-214941676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572797032	chr1:214941768-214941769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188025887	chr1:214965030-214965031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566624337	chr1:214965085-214965086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538790991	chr1:214965088-214965089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2154119	chr1:214965101-214965102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373715657	chr1:214965123-214965124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2032042	chr1:214965192-214965193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2032043	chr1:214965235-214965236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112352904	chr1:214965253-214965254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554931038	chr1:214965254-214965255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575239611	chr1:214965269-214965270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191105033	chr1:214965332-214965333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553044361	chr1:214965451-214965452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1450601	chr1:214965457-214965458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs544729644	chr1:214965467-214965468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12022628	chr1:214965475-214965476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12063597	chr1:214965513-214965514	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214940800-214941800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:214965000-214966600	Enhancers	Osteobl	bone
3	chr1:214965200-214965800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:214965200-214966000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:214965200-214967000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:214965200-214967400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:214965400-214965600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:214965400-214966400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:214965600-214966400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:214966000-214967000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:214966000-214967200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:214966400-214967200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:214973800-214975400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:214974200-214975200	Enhancers	NHDF-Ad	bronchial
15	chr1:214974800-214975200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:214975200-214976200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:214976400-214976600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:214982400-214982800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:214982400-214982800	Enhancers	NHDF-Ad	bronchial
20	chr1:214989000-214989400	Enhancers	Osteobl	bone
21	chr1:214996600-214997200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:214996800-214998400	Active TSS	K562	blood
23	chr1:214997200-215006200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:214998200-214998600	Enhancers	NHDF-Ad	bronchial
25	chr1:215001400-215001600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:215001600-215002000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:215002000-215019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:215003400-215003800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:215004400-215004600	Enhancers	NHDF-Ad	bronchial
30	chr1:215004600-215005800	Weak transcription	NHDF-Ad	bronchial
31	chr1:215004800-215005000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:215004800-215007200	Enhancers	HepG2	liver
33	chr1:215005000-215006000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:215005800-215007200	Enhancers	NHDF-Ad	bronchial
35	chr1:215006000-215007200	Enhancers	Osteobl	bone
36	chr1:215006000-215007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:215006200-215007200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:215006200-215007400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:215006400-215007200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:215006400-215007200	Enhancers	NH-A	brain

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