Variant report

Variant	esv3504826
Chromosome Location	chr1:212699872-212703913
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212701761..212704711-chr1:212708514..212710681,2	K562	blood:
2	chr1:212702412..212705298-chr1:212732068..212734031,2	K562	blood:
3	chr1:212700413..212703212-chr1:212780058..212782151,2	K562	blood:
4	chr1:212697785..212700153-chr1:212711709..212713323,2	K562	blood:
5	chr1:212687310..212689846-chr1:212695967..212699890,3	K562	blood:
6	chr1:212701309..212704830-chr1:212779755..212783914,3	K562	blood:
7	chr1:212698264..212699988-chr1:212781898..212784520,2	K562	blood:
8	chr1:212696525..212698260-chr1:212702535..212704842,2	K562	blood:
9	chr1:212700935..212702809-chr1:212782205..212783914,2	K562	blood:
10	chr1:212702950..212707240-chr1:212782222..212787168,5	K562	blood:
11	chr1:212694260..212697495-chr1:212698581..212701408,3	K562	blood:
12	chr1:212698488..212700522-chr1:212782104..212785577,3	K562	blood:
13	chr1:212699846..212701428-chr1:212730391..212732074,2	MCF-7	breast:
14	chr1:212694260..212696447-chr1:212698581..212701074,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260805	chromatin interactions
ENSG00000162772	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536429211	chr1:212699881-212699882	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs538871211	chr1:212699956-212699957	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567745946	chr1:212699995-212699996	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs534711659	chr1:212700063-212700064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs144204248	chr1:212700127-212700128	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs182382434	chr1:212700151-212700152	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs545269356	chr1:212700179-212700180	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs115216456	chr1:212700182-212700183	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs1021379	chr1:212700204-212700205	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs75327513	chr1:212700391-212700392	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560868547	chr1:212700397-212700398	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528143218	chr1:212700406-212700407	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539858962	chr1:212700491-212700492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564844967	chr1:212700536-212700537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1021378	chr1:212700618-212700619	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373480393	chr1:212700637-212700638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs75479369	chr1:212700676-212700677	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs186721602	chr1:212700682-212700683	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191904350	chr1:212700683-212700684	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548318620	chr1:212700708-212700709	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567662746	chr1:212700728-212700729	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570754539	chr1:212700750-212700751	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs74713581	chr1:212700753-212700754	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs873574	chr1:212700758-212700759	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552972182	chr1:212700788-212700789	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs75335856	chr1:212700795-212700796	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs146560786	chr1:212700797-212700798	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs557272882	chr1:212700801-212700802	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs5780694	chr1:212700810-212700811	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551306673	chr1:212700816-212700817	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs397860967	chr1:212700818-212700819	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs76381077	chr1:212700819-212700820	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575894378	chr1:212700843-212700844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565041690	chr1:212700894-212700895	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs141103766	chr1:212700911-212700912	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs116563793	chr1:212700917-212700918	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182977411	chr1:212700936-212700937	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188679799	chr1:212701029-212701030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112065369	chr1:212701048-212701049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs540348806	chr1:212701169-212701170	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564956395	chr1:212701208-212701209	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143202809	chr1:212701209-212701210	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs544220720	chr1:212701239-212701240	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562774236	chr1:212701298-212701299	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs148239536	chr1:212701317-212701318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs192826016	chr1:212701323-212701324	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560265405	chr1:212701362-212701363	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs185760033	chr1:212701368-212701369	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs527473664	chr1:212701381-212701382	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs546725384	chr1:212701407-212701408	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	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	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212692600-212700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:212699400-212702400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:212699400-212704200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:212699600-212702200	Weak transcription	Right Atrium	heart
5	chr1:212699800-212702000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:212699800-212702400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:212699800-212702600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:212699800-212705200	Weak transcription	Placenta	Placenta
9	chr1:212699800-212705800	Weak transcription	Left Ventricle	heart
10	chr1:212701600-212703000	Enhancers	HSMMtube	muscle
11	chr1:212701800-212702200	Bivalent Enhancer	HSMM	muscle
12	chr1:212702000-212702800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:212702000-212703000	Enhancers	Fetal Muscle Leg	muscle
14	chr1:212702000-212703200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:212702000-212703400	Enhancers	NHDF-Ad	bronchial
16	chr1:212702000-212703600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:212702400-212702600	Enhancers	Brain Substantia Nigra	brain
18	chr1:212702400-212703000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:212702400-212703000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:212702400-212703400	Enhancers	Osteobl	bone
21	chr1:212702600-212702800	Bivalent Enhancer	NH-A	brain
22	chr1:212702600-212703000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
23	chr1:212702600-212703000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:212702600-212703000	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr1:212702600-212703000	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:212702600-212703600	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:212702800-212703000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:212702800-212703000	Flanking Bivalent TSS/Enh	NH-A	brain
29	chr1:212702800-212703200	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr1:212702800-212703200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:212703000-212703600	Enhancers	Brain Substantia Nigra	brain
32	chr1:212703000-212704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:212703000-212704800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:212703000-212705400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:212703200-212703400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:212703200-212703600	Enhancers	Brain Hippocampus Middle	brain
37	chr1:212703200-212703600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr1:212703400-212703600	Bivalent Enhancer	NHDF-Ad	bronchial
39	chr1:212703400-212703800	Bivalent Enhancer	Osteobl	bone

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