Variant report

Variant	esv2760086
Chromosome Location	chr1:215370570-215381265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215370070..215372970-chr1:215440375..215442931,2	MCF-7	breast:
2	chr1:215293562..215295636-chr1:215380314..215382077,2	K562	blood:

Extended variants
information (count: 394 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1015244	chr1:215370570-215370571	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552795503	chr1:215370600-215370601	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72735373	chr1:215370621-215370622	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538586969	chr1:215370629-215370630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370305843	chr1:215370661-215370662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181349900	chr1:215370667-215370668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184277392	chr1:215370673-215370674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554963540	chr1:215370688-215370689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148812801	chr1:215370696-215370697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540730364	chr1:215370721-215370722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371283499	chr1:215370739-215370740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1538546	chr1:215370762-215370763	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs377371077	chr1:215370768-215370769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563220357	chr1:215370782-215370783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531842798	chr1:215370811-215370812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370887366	chr1:215370843-215370844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550200769	chr1:215370880-215370881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566919230	chr1:215370887-215370888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529767291	chr1:215370923-215370924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375111924	chr1:215370952-215370953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80299305	chr1:215370972-215370973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189115283	chr1:215370996-215370997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80041555	chr1:215371009-215371010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371160724	chr1:215371030-215371031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181056730	chr1:215371058-215371059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370442673	chr1:215371173-215371174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143395042	chr1:215371177-215371178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574865055	chr1:215371224-215371225	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115372417	chr1:215371271-215371272	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554258070	chr1:215371273-215371274	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577239483	chr1:215371283-215371284	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573946221	chr1:215371298-215371299	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs66595419	chr1:215371341-215371342	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200253567	chr1:215371344-215371345	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372525221	chr1:215371345-215371346	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397725357	chr1:215371360-215371361	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199833303	chr1:215371364-215371365	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76180469	chr1:215371381-215371382	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79362940	chr1:215371382-215371383	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79558659	chr1:215371424-215371425	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576374434	chr1:215371425-215371426	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187179135	chr1:215371459-215371460	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575534466	chr1:215371464-215371465	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192313455	chr1:215371468-215371469	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560581348	chr1:215371496-215371497	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367577244	chr1:215371512-215371513	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546248333	chr1:215371555-215371556	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560194571	chr1:215371602-215371603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372278191	chr1:215371618-215371619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1339409	chr1:215371645-215371646	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
Developmental delay	21147756	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215366800-215371200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:215367000-215374400	Weak transcription	Osteobl	bone
3	chr1:215367400-215370800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215370200-215370600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:215370200-215371200	Weak transcription	NHDF-Ad	bronchial
6	chr1:215370600-215370800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:215370600-215374200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:215370800-215371400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:215371200-215371600	Strong transcription	NHDF-Ad	bronchial
10	chr1:215371200-215372000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:215371400-215371600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:215371400-215371600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:215371400-215371600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:215371400-215374200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:215371600-215372200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:215371600-215374200	Weak transcription	NHDF-Ad	bronchial
17	chr1:215371800-215373000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:215371800-215373000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:215372200-215375800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:215372800-215374000	Enhancers	Brain Germinal Matrix	brain
21	chr1:215372800-215375400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:215373000-215373800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:215373000-215374600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:215373000-215375400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:215373000-215375600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:215373200-215373400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:215373200-215373800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:215373200-215374200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:215373200-215375000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:215373200-215375000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:215373200-215375200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr1:215373200-215375200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:215373200-215375200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:215373400-215375200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:215373600-215374600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:215373800-215375600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:215374200-215374600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:215374200-215375000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:215374200-215375000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:215374200-215375000	Enhancers	NHDF-Ad	bronchial
41	chr1:215374400-215374800	Enhancers	Osteobl	bone
42	chr1:215374600-215375800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:215374600-215376400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:215374800-215380000	Weak transcription	Osteobl	bone
45	chr1:215375000-215376000	Weak transcription	NHDF-Ad	bronchial
46	chr1:215375000-215379600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:215375000-215387200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:215375200-215376200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:215375600-215375800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:215376000-215376400	Enhancers	NHDF-Ad	bronchial

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