Variant report

Variant	nsv1001718
Chromosome Location	chr2:213047033-213155985
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212824327..212826321-chr2:213119385..213121248,2	MCF-7	breast:
2	chr2:213087806..213089470-chr2:213104320..213105941,2	MCF-7	breast:
3	chr2:213110335..213112278-chr2:213114371..213115906,2	MCF-7	breast:
4	chr2:213108853..213110992-chr2:213114605..213117467,2	MCF-7	breast:
5	chr2:213060297..213061134-chr7:82083640..82084485,2	MCF-7	breast:
6	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
7	chr2:213110335..213112278-chr2:213114371..213115906,2	MCF-7	breast:
8	chr2:213087806..213089470-chr2:213104320..213105941,2	MCF-7	breast:
9	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
10	chr2:213108853..213110992-chr2:213114605..213117467,2	MCF-7	breast:
11	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
12	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
13	chr2:213040589..213042469-chr2:213044836..213047782,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178568	chromatin interactions

Extended variants
information (count: 2660 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2660 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375508997	chr2:213047081-213047082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77723929	chr2:213047114-213047115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577237248	chr2:213047120-213047121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181776945	chr2:213047147-213047148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556630191	chr2:213047151-213047152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77868325	chr2:213047186-213047187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542195388	chr2:213047257-213047258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376812016	chr2:213047266-213047267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561789516	chr2:213047289-213047290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572217271	chr2:213047301-213047302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199988075	chr2:213047303-213047304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544437940	chr2:213047304-213047305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540835814	chr2:213047321-213047322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77206590	chr2:213047340-213047341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532895833	chr2:213047350-213047351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538039489	chr2:213047399-213047400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577848393	chr2:213061802-213061803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566077368	chr2:213061804-213061805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150247268	chr2:213061870-213061871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571864900	chr2:213061915-213061916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57010163	chr2:213061939-213061940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557138117	chr2:213061986-213061987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573893852	chr2:213061992-213061993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189168557	chr2:213061994-213061995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540439904	chr2:213061995-213061996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10164682	chr2:213062018-213062019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs34044480	chr2:213062057-213062058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138425444	chr2:213062088-213062089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141661856	chr2:213062107-213062108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575458381	chr2:213062211-213062212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562085573	chr2:213062222-213062223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs55786007	chr2:213062235-213062236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs371983860	chr2:213062244-213062245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76416365	chr2:213062265-213062266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146176591	chr2:213062266-213062267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56815773	chr2:213062284-213062285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs76691091	chr2:213062342-213062343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551897241	chr2:213062349-213062350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568791280	chr2:213062379-213062380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537390800	chr2:213062380-213062381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137901300	chr2:213062399-213062400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567553580	chr2:213062412-213062413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373920281	chr2:213062419-213062420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532142315	chr2:213062490-213062491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370853977	chr2:213062500-213062501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560283389	chr2:213062501-213062502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375732072	chr2:213062503-213062504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58195143	chr2:213062510-213062511	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149861038	chr2:213069833-213069834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562881556	chr2:213069856-213069857	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	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
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213046400-213047400	Enhancers	Fetal Heart	heart
2	chr2:213061800-213062600	Enhancers	Brain Substantia Nigra	brain
3	chr2:213062200-213062600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:213069800-213070000	Enhancers	Pancreas	Pancrea
5	chr2:213087400-213087800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:213090600-213093800	Enhancers	Fetal Heart	heart
7	chr2:213090800-213091000	ZNF genes & repeats	Aorta	Aorta
8	chr2:213090800-213091000	Enhancers	Brain Angular Gyrus	brain
9	chr2:213090800-213091000	Enhancers	Brain Anterior Caudate	brain
10	chr2:213091000-213092000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:213091000-213098800	Weak transcription	Aorta	Aorta
12	chr2:213092000-213092400	Enhancers	Hela-S3	cervix
13	chr2:213092000-213092800	Enhancers	Brain Angular Gyrus	brain
14	chr2:213092000-213093600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:213092200-213092800	Enhancers	Fetal Brain Female	brain
16	chr2:213092200-213094000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:213092200-213094200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:213092400-213092800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:213092400-213092800	Weak transcription	Hela-S3	cervix
20	chr2:213092400-213093000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:213092400-213093800	Enhancers	Osteobl	bone
22	chr2:213092400-213094400	Enhancers	Brain Germinal Matrix	brain
23	chr2:213092600-213092800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:213092600-213092800	Enhancers	Fetal Kidney	kidney
25	chr2:213092600-213092800	Flanking Active TSS	Fetal Lung	lung
26	chr2:213092600-213093000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:213092600-213093000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:213092600-213094000	Enhancers	Brain Substantia Nigra	brain
29	chr2:213092800-213093400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:213092800-213093800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:213092800-213093800	Weak transcription	Fetal Kidney	kidney
32	chr2:213092800-213093800	Enhancers	NHEK	skin
33	chr2:213092800-213094200	Enhancers	Fetal Lung	lung
34	chr2:213092800-213094600	Enhancers	Hela-S3	cervix
35	chr2:213093000-213093400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:213093400-213094000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:213093400-213094000	Enhancers	NHDF-Ad	bronchial
38	chr2:213093400-213094200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:213093400-213094400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:213093600-213107400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:213093800-213094000	Enhancers	Fetal Kidney	kidney
42	chr2:213098800-213099000	Enhancers	Aorta	Aorta
43	chr2:213100400-213102600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:213101800-213103000	Enhancers	HepG2	liver
45	chr2:213102000-213102200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:213102000-213102200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:213102000-213103200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr2:213102000-213103200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:213102000-213103200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:213102000-213103200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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