Variant report

Variant	nsv1000127
Chromosome Location	chr2:235158803-235210293
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:235198144..235199087-chr2:235301414..235302273,2	MCF-7	breast:
2	chr2:234885292..234886125-chr2:235166874..235167410,2	MCF-7	breast:
3	chr2:235197507..235198142-chr2:235314505..235315353,4	MCF-7	breast:
4	chr2:235198086..235200981-chr2:235203016..235204860,2	MCF-7	breast:
5	chr2:235189626..235191968-chr2:235200515..235202999,2	K562	blood:
6	chr2:235201767..235203347-chr2:235209023..235210724,2	MCF-7	breast:
7	chr2:235198086..235200981-chr2:235203016..235204860,2	MCF-7	breast:
8	chr2:235206539..235209460-chr2:235391484..235393644,2	K562	blood:
9	chr2:235044193..235044936-chr2:235166707..235167413,3	MCF-7	breast:
10	chr2:235197567..235199398-chr2:235404539..235407014,2	MCF-7	breast:
11	chr2:235196853..235198165-chr2:235314416..235315341,7	MCF-7	breast:
12	chr2:235197396..235198049-chr3:12430421..12431137,2	MCF-7	breast:
13	chr2:235197413..235198142-chr2:235409239..235409759,2	K562	blood:
14	chr2:235189626..235191968-chr2:235200515..235202999,2	K562	blood:
15	chr2:235201767..235203347-chr2:235209023..235210724,2	MCF-7	breast:
16	chr2:235079344..235080200-chr2:235166670..235167350,3	MCF-7	breast:
17	chr2:235197644..235198199-chr2:235453526..235454186,2	MCF-7	breast:
18	chr2:235043979..235044965-chr2:235166466..235167435,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188042	chromatin interactions

Extended variants
information (count: 2069 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2069 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528166650	chr2:235158831-235158832	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540379724	chr2:235158924-235158925	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577531589	chr2:235158958-235158959	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs62186778	chr2:235158972-235158973	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563266063	chr2:235159055-235159056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58876766	chr2:235159086-235159087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187048376	chr2:235159096-235159097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559942670	chr2:235159112-235159113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192958867	chr2:235159137-235159138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140478926	chr2:235159138-235159139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571686147	chr2:235159144-235159145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530847973	chr2:235159217-235159218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59432605	chr2:235159299-235159300	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145907076	chr2:235159320-235159321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536879098	chr2:235159349-235159350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34795266	chr2:235159360-235159361	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555153511	chr2:235159424-235159425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185087079	chr2:235159468-235159469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567043039	chr2:235159503-235159504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558632585	chr2:235159554-235159555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534619150	chr2:235159566-235159567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530030014	chr2:235159589-235159590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557663417	chr2:235159634-235159635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376953114	chr2:235159694-235159695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138209561	chr2:235159702-235159703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36076125	chr2:235159739-235159740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577846962	chr2:235159740-235159741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138453973	chr2:235159799-235159800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141950366	chr2:235159830-235159831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573660801	chr2:235159850-235159851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542696222	chr2:235159932-235159933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560007963	chr2:235159938-235159939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573442329	chr2:235159983-235159984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545603507	chr2:235160041-235160042	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs372063870	chr2:235160095-235160096	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs565470953	chr2:235160097-235160098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs531235926	chr2:235160129-235160130	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs115616265	chr2:235160134-235160135	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs376024583	chr2:235160150-235160151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs377011114	chr2:235160159-235160160	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs150256073	chr2:235160175-235160176	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs546662086	chr2:235160181-235160182	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566610019	chr2:235160223-235160224	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75061488	chr2:235160228-235160229	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs188797916	chr2:235160242-235160243	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs368314001	chr2:235160250-235160251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs571489106	chr2:235160289-235160290	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs552704533	chr2:235160323-235160324	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556683997	chr2:235160377-235160378	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77322210	chr2:235160408-235160409	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
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
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:927 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235149400-235171600	Enhancers	HMEC	breast
2	chr2:235152600-235171800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:235154200-235163800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:235154800-235159800	Weak transcription	Pancreas	Pancrea
5	chr2:235155000-235160000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:235155400-235162600	Weak transcription	Dnd41	blood
7	chr2:235156600-235160800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:235156800-235159800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:235156800-235160000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:235156800-235160200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:235156800-235166600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:235157200-235161600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:235157400-235159000	Enhancers	Placenta	Placenta
14	chr2:235157400-235160000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:235157400-235161800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:235157600-235160000	Enhancers	NH-A	brain
17	chr2:235157600-235161600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:235157800-235160000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:235157800-235160000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:235157800-235160000	Enhancers	HSMM	muscle
21	chr2:235157800-235160200	Enhancers	HSMMtube	muscle
22	chr2:235157800-235161400	Enhancers	HUVEC	blood vessel
23	chr2:235158000-235159200	Enhancers	NHLF	lung
24	chr2:235158000-235160800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:235158000-235161200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr2:235158000-235161600	Enhancers	Osteobl	bone
27	chr2:235158000-235161800	Enhancers	NHDF-Ad	bronchial
28	chr2:235158200-235159000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:235158200-235159000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:235158200-235159200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:235158200-235159200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:235158200-235159400	Enhancers	Hela-S3	cervix
33	chr2:235158200-235160200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:235158200-235160400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:235158400-235159000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:235158400-235159000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:235158400-235159000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:235158400-235159200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr2:235158400-235159200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:235158400-235159200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:235158400-235159400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:235158400-235159800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:235158600-235159800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:235158600-235159800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:235158600-235160000	Weak transcription	Esophagus	oesophagus
46	chr2:235158600-235160000	Weak transcription	Fetal Lung	lung
47	chr2:235158600-235161400	Enhancers	NHEK	skin
48	chr2:235158800-235159000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:235158800-235159000	Flanking Active TSS	A549	lung
50	chr2:235159000-235160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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