Variant report

Variant	esv2830097
Chromosome Location	chr1:216629416-216657259
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216635219..216637699-chr1:216639556..216643694,3	MCF-7	breast:
2	chr1:216636895..216639033-chr1:216642628..216645185,2	K562	blood:
3	chr1:216629602..216631195-chr1:216631680..216634222,2	MCF-7	breast:
4	chr1:216636945..216637675-chr3:18331682..18332315,2	MCF-7	breast:
5	chr1:216636895..216639033-chr1:216642628..216645185,2	K562	blood:
6	chr1:216636863..216639290-chr1:216639438..216641574,2	MCF-7	breast:
7	chr1:216622981..216624507-chr1:216637851..216639964,2	MCF-7	breast:
8	chr1:216636863..216639290-chr1:216639438..216641574,2	MCF-7	breast:
9	chr1:216635219..216637699-chr1:216639556..216643694,3	MCF-7	breast:
10	chr1:216629602..216631195-chr1:216631680..216634222,2	MCF-7	breast:

No data

Extended variants
information (count: 578 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:578 , 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	rs7537768	chr1:216629416-216629417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148521957	chr1:216629421-216629422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562729619	chr1:216629447-216629448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142807175	chr1:216629474-216629475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151027693	chr1:216629521-216629522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116367034	chr1:216629538-216629539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35889582	chr1:216629614-216629615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11117583	chr1:216629674-216629675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189989607	chr1:216629747-216629748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370741242	chr1:216629776-216629777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570771508	chr1:216629783-216629784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76488831	chr1:216629814-216629815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377321962	chr1:216629861-216629862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183372612	chr1:216629898-216629899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144913867	chr1:216629932-216629933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146752196	chr1:216630055-216630056	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561672579	chr1:216630115-216630116	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs568301183	chr1:216630118-216630119	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533836886	chr1:216630123-216630124	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187545010	chr1:216630156-216630157	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576467274	chr1:216630183-216630184	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs539127836	chr1:216630192-216630193	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs140364342	chr1:216630225-216630226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530488088	chr1:216630254-216630255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542369832	chr1:216630266-216630267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555686399	chr1:216630267-216630268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113156824	chr1:216630282-216630283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376770668	chr1:216630310-216630311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192793830	chr1:216630335-216630336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564457377	chr1:216630340-216630341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76763251	chr1:216630346-216630347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543930267	chr1:216630350-216630351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137985705	chr1:216630377-216630378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78560815	chr1:216630403-216630404	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548316725	chr1:216630419-216630420	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555661061	chr1:216630433-216630434	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373054285	chr1:216630440-216630441	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185542204	chr1:216630536-216630537	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149474263	chr1:216630545-216630546	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547319635	chr1:216630549-216630550	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4240918	chr1:216630596-216630597	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143038071	chr1:216630604-216630605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555896559	chr1:216630621-216630622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148200642	chr1:216630626-216630627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4240919	chr1:216630651-216630652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187698624	chr1:216630718-216630719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192569059	chr1:216630725-216630726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76868751	chr1:216630783-216630784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184428012	chr1:216630818-216630819	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs189187728	chr1:216630823-216630824	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216621800-216629600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:216629600-216630000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:216629600-216630000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:216629600-216630200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:216629600-216631200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:216629600-216631200	Enhancers	Hela-S3	cervix
7	chr1:216629800-216630400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:216629800-216630600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:216629800-216630600	Enhancers	NHEK	skin
10	chr1:216629800-216631000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:216629800-216631000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:216629800-216631000	Enhancers	NH-A	brain
13	chr1:216629800-216631200	Enhancers	HSMMtube	muscle
14	chr1:216629800-216631400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:216630000-216630200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:216630000-216630200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr1:216630000-216630200	Enhancers	NHLF	lung
18	chr1:216630000-216630400	Enhancers	Osteobl	bone
19	chr1:216630000-216630600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:216630000-216630800	Enhancers	NHDF-Ad	bronchial
21	chr1:216630000-216631000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:216630000-216631000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:216630000-216631000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:216630000-216631000	Enhancers	HSMM	muscle
25	chr1:216630000-216631600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:216630200-216630400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:216630200-216630400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:216630200-216631000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr1:216630200-216631000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:216630200-216631000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:216630200-216632400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:216630200-216634600	Weak transcription	NHLF	lung
33	chr1:216630400-216630600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:216630400-216630600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:216630400-216630600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:216630400-216630800	Weak transcription	Osteobl	bone
37	chr1:216630400-216631200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:216630400-216632400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr1:216630600-216630800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:216630600-216630800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:216630600-216631000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:216630600-216632200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:216630600-216632600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:216630600-216634800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:216630600-216636600	Weak transcription	NHEK	skin
46	chr1:216630800-216631000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:216630800-216631000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:216630800-216631000	Enhancers	Osteobl	bone
49	chr1:216630800-216636000	Weak transcription	NHDF-Ad	bronchial
50	chr1:216631000-216631400	Enhancers	Muscle Satellite Cultured Cells	--

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