Variant report

Variant	nsv998172
Chromosome Location	chr2:54488511-54537474
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	chr2:54516670..54519099-chr2:54522119..54523673,2	MCF-7	breast:
2	chr2:54503721..54505972-chr2:54523725..54525740,2	K562	blood:
3	chr2:54516670..54519099-chr2:54522119..54523673,2	MCF-7	breast:
4	chr2:54501772..54502741-chr2:54515554..54516142,2	MCF-7	breast:
5	chr2:54531334..54533448-chr2:54553590..54555791,2	K562	blood:
6	chr2:54511470..54513165-chr2:54513322..54515700,2	K562	blood:
7	chr2:54534452..54537396-chr2:54540353..54542646,2	MCF-7	breast:
8	chr2:54483446..54484986-chr2:54498867..54501020,2	K562	blood:
9	chr2:54501016..54503842-chr2:54504791..54507736,2	MCF-7	breast:
10	chr2:54482506..54484137-chr2:54492737..54494268,2	K562	blood:
11	chr2:54503721..54505972-chr2:54523725..54525740,2	K562	blood:
12	chr2:54483388..54485294-chr2:54487468..54489310,2	K562	blood:
13	chr2:54501772..54502741-chr2:54515554..54516142,2	MCF-7	breast:
14	chr2:54483794..54487067-chr2:54487468..54489708,3	K562	blood:
15	chr2:54495606..54497945-chr2:54499369..54502319,2	K562	blood:
16	chr2:54501016..54503842-chr2:54504791..54507736,2	MCF-7	breast:
17	chr2:54511470..54513165-chr2:54513322..54515700,2	K562	blood:
18	chr2:54495606..54497945-chr2:54499369..54502319,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178021	chromatin interactions

Extended variants
information (count: 2024 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2024 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs843692	chr2:54488511-54488512	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530523813	chr2:54488534-54488535	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369487351	chr2:54488535-54488536	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550517491	chr2:54488567-54488568	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570336868	chr2:54488580-54488581	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569830988	chr2:54488663-54488664	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs843691	chr2:54488664-54488665	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs547311081	chr2:54488717-54488718	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs843690	chr2:54488721-54488722	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183289300	chr2:54488749-54488750	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572537373	chr2:54488794-54488795	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555688400	chr2:54488816-54488817	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188633107	chr2:54488820-54488821	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138961722	chr2:54488887-54488888	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115098737	chr2:54488928-54488929	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115574495	chr2:54488943-54488944	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577935657	chr2:54488947-54488948	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142173339	chr2:54488968-54488969	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184068123	chr2:54489032-54489033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145964421	chr2:54489062-54489063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76165334	chr2:54489084-54489085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372953693	chr2:54489097-54489098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541577994	chr2:54489115-54489116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188412093	chr2:54489132-54489133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530768904	chr2:54489166-54489167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376762609	chr2:54489202-54489203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111352326	chr2:54489203-54489204	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564254803	chr2:54489257-54489258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571609761	chr2:54489301-54489302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191280587	chr2:54489308-54489309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185770517	chr2:54489317-54489318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1727519	chr2:54489369-54489370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149698733	chr2:54489514-54489515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529637853	chr2:54489582-54489583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114304561	chr2:54489611-54489612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558858483	chr2:54489617-54489618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569334466	chr2:54489650-54489651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541461364	chr2:54489676-54489677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190195122	chr2:54489697-54489698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201898645	chr2:54489809-54489810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79704540	chr2:54489812-54489813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571486533	chr2:54489814-54489815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60039797	chr2:54489844-54489845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs397707863	chr2:54489845-54489846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575067430	chr2:54489865-54489866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116178426	chr2:54489873-54489874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113612553	chr2:54489884-54489885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182008319	chr2:54489917-54489918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs843689	chr2:54489932-54489933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148405562	chr2:54489946-54489947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54449800-54535200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:54452800-54490200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:54468400-54492200	Weak transcription	HSMMtube	muscle
4	chr2:54479200-54489200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:54479800-54489200	Weak transcription	Gastric	stomach
6	chr2:54481000-54502600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:54483200-54491800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:54483400-54489200	Weak transcription	Fetal Stomach	stomach
9	chr2:54483400-54491200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:54483400-54521200	Weak transcription	Pancreas	Pancrea
11	chr2:54483600-54488800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:54485600-54488600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:54486600-54496000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:54487400-54494400	Weak transcription	Psoas Muscle	Psoas
15	chr2:54487600-54489400	Enhancers	Fetal Lung	lung
16	chr2:54487600-54489800	Enhancers	Fetal Intestine Large	intestine
17	chr2:54488000-54488600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:54488200-54489200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:54488200-54514600	Weak transcription	Aorta	Aorta
20	chr2:54488400-54489000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:54488400-54489000	Flanking Active TSS	HepG2	liver
22	chr2:54488400-54489600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:54488400-54489600	Enhancers	Osteobl	bone
24	chr2:54488600-54488800	Enhancers	Fetal Kidney	kidney
25	chr2:54488600-54490000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:54488800-54489400	Enhancers	Fetal Intestine Small	intestine
27	chr2:54488800-54489400	Enhancers	A549	lung
28	chr2:54488800-54490800	Weak transcription	Fetal Kidney	kidney
29	chr2:54489000-54489200	Enhancers	Stomach Mucosa	stomach
30	chr2:54489000-54491600	Enhancers	HepG2	liver
31	chr2:54489200-54489400	Enhancers	Fetal Muscle Leg	muscle
32	chr2:54489200-54489400	Enhancers	Fetal Stomach	stomach
33	chr2:54489200-54489400	Enhancers	Gastric	stomach
34	chr2:54489200-54489400	Enhancers	Left Ventricle	heart
35	chr2:54489200-54489600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:54489200-54489800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:54489200-54490400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:54489400-54490000	Weak transcription	Fetal Stomach	stomach
39	chr2:54489400-54490200	Weak transcription	Fetal Lung	lung
40	chr2:54489400-54495600	Weak transcription	Left Ventricle	heart
41	chr2:54489400-54501400	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:54490000-54490200	Enhancers	Fetal Stomach	stomach
43	chr2:54490200-54490400	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr2:54490200-54490600	ZNF genes & repeats	Fetal Lung	lung
45	chr2:54490400-54492000	Strong transcription	Primary B cells from cord blood	blood
46	chr2:54490600-54492600	Weak transcription	Fetal Lung	lung
47	chr2:54491000-54501200	Weak transcription	HSMM	muscle
48	chr2:54491200-54491400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr2:54492000-54498400	Weak transcription	Primary B cells from cord blood	blood
50	chr2:54492200-54492400	Enhancers	HSMMtube	muscle

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