Variant report

Variant	nsv979344
Chromosome Location	chr2:150989247-150991969
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:150990703..150992242-chr2:151342766..151345090,2	MCF-7	breast:
2	chr2:150990310..150992459-chr2:150998198..151000635,2	MCF-7	breast:
3	chr2:150981948..150984533-chr2:150988728..150991598,2	MCF-7	breast:
4	chr2:150988564..150990849-chr2:151022615..151025266,3	MCF-7	breast:
5	chr2:150990438..150993120-chr2:150995084..150997396,2	MCF-7	breast:
6	chr2:150984090..150985971-chr2:150989879..150991996,2	MCF-7	breast:
7	chr2:150988562..150990307-chr2:151341817..151344325,3	MCF-7	breast:
8	chr2:150980657..150983309-chr2:150988765..150990681,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115963	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368313589	chr2:150989302-150989303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs16827844	chr2:150989340-150989341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs71422239	chr2:150989460-150989461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542409242	chr2:150989463-150989464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35628937	chr2:150989479-150989480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535499757	chr2:150989524-150989525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs193199154	chr2:150989554-150989555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562412029	chr2:150989555-150989556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532766126	chr2:150989612-150989613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113480155	chr2:150989618-150989619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572452817	chr2:150989629-150989630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375064515	chr2:150989633-150989634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34668646	chr2:150989646-150989647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113841962	chr2:150989659-150989660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566118558	chr2:150989695-150989696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185076731	chr2:150989708-150989709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577801338	chr2:150989709-150989710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564332311	chr2:150989710-150989711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148054979	chr2:150989762-150989763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527613044	chr2:150989763-150989764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375221922	chr2:150989776-150989777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541468871	chr2:150989894-150989895	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561675547	chr2:150989900-150989901	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs527427871	chr2:150989946-150989947	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190112862	chr2:150989958-150989959	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369070766	chr2:150989996-150989997	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567474823	chr2:150990024-150990025	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570690456	chr2:150990067-150990068	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533187942	chr2:150990076-150990077	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75006531	chr2:150990111-150990112	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs68172038	chr2:150990120-150990121	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535695138	chr2:150990121-150990122	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549157320	chr2:150990125-150990126	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181353874	chr2:150990156-150990157	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144599909	chr2:150990157-150990158	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569259237	chr2:150990165-150990166	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138626997	chr2:150990173-150990174	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577687927	chr2:150990208-150990209	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs68028498	chr2:150990224-150990225	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557487397	chr2:150990250-150990251	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185528969	chr2:150990271-150990272	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568407923	chr2:150990290-150990291	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188333332	chr2:150990347-150990348	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs66854919	chr2:150990357-150990358	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78992625	chr2:150990386-150990387	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs116140283	chr2:150990429-150990430	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs4563246	chr2:150990435-150990436	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147586617	chr2:150990458-150990459	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561566493	chr2:150990522-150990523	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs141643338	chr2:150990523-150990524	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:150977800-150990600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:150983600-150990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:150983600-150990400	Weak transcription	Fetal Kidney	kidney
4	chr2:150984200-150990800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:150984600-150989800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:150984600-150990000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:150984600-150990800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:150984800-150989800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:150984800-150990000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:150984800-150990000	Weak transcription	NHDF-Ad	bronchial
11	chr2:150984800-150990000	Weak transcription	NHLF	lung
12	chr2:150984800-150990200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:150984800-150990200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:150984800-150990800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:150984800-150997800	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:150985000-150989800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:150985000-150989800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:150985000-150989800	Weak transcription	NH-A	brain
19	chr2:150985000-150990000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:150985000-150990000	Weak transcription	Osteobl	bone
21	chr2:150986200-150989800	Enhancers	A549	lung
22	chr2:150986400-150990200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:150987000-150993000	Enhancers	Fetal Lung	lung
24	chr2:150988400-150991400	Enhancers	HUVEC	blood vessel
25	chr2:150989800-150990000	Enhancers	NH-A	brain
26	chr2:150989800-150991000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:150989800-150991200	Enhancers	HMEC	breast
28	chr2:150989800-150991600	Enhancers	NHEK	skin
29	chr2:150989800-150991800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:150989800-150992400	Flanking Active TSS	A549	lung
31	chr2:150989800-150993800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:150989800-150994800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:150990000-150990200	Flanking Active TSS	NH-A	brain
34	chr2:150990000-150990800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:150990000-150991000	Enhancers	Hela-S3	cervix
36	chr2:150990000-150991000	Enhancers	HSMM	muscle
37	chr2:150990000-150991200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:150990000-150991200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:150990000-150991200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:150990000-150991400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:150990000-150991400	Enhancers	NHLF	lung
42	chr2:150990000-150991800	Enhancers	Osteobl	bone
43	chr2:150990000-150993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:150990000-150993800	Enhancers	NHDF-Ad	bronchial
45	chr2:150990000-150995800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:150990200-150990400	Enhancers	NH-A	brain
47	chr2:150990200-150990600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:150990200-150990600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:150990200-150990800	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:150990200-150991000	Enhancers	H1 Cell Line	embryonic stem cell

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