Variant report

Variant	nsv1011754
Chromosome Location	chr2:54494644-54533805
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	chr2:54511470..54513165-chr2:54513322..54515700,2	K562	blood:
2	chr2:54516670..54519099-chr2:54522119..54523673,2	MCF-7	breast:
3	chr2:54495606..54497945-chr2:54499369..54502319,2	K562	blood:
4	chr2:54501016..54503842-chr2:54504791..54507736,2	MCF-7	breast:
5	chr2:54501772..54502741-chr2:54515554..54516142,2	MCF-7	breast:
6	chr2:54503721..54505972-chr2:54523725..54525740,2	K562	blood:
7	chr2:54516670..54519099-chr2:54522119..54523673,2	MCF-7	breast:
8	chr2:54495606..54497945-chr2:54499369..54502319,2	K562	blood:
9	chr2:54503721..54505972-chr2:54523725..54525740,2	K562	blood:
10	chr2:54531334..54533448-chr2:54553590..54555791,2	K562	blood:
11	chr2:54501016..54503842-chr2:54504791..54507736,2	MCF-7	breast:
12	chr2:54483446..54484986-chr2:54498867..54501020,2	K562	blood:
13	chr2:54511470..54513165-chr2:54513322..54515700,2	K562	blood:
14	chr2:54501772..54502741-chr2:54515554..54516142,2	MCF-7	breast:

No data

Extended variants
information (count: 1583 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1583 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528324800	chr2:54494645-54494646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147215279	chr2:54494659-54494660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140576440	chr2:54494700-54494701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181307101	chr2:54494735-54494736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539399973	chr2:54494739-54494740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115633282	chr2:54494748-54494749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186152310	chr2:54494751-54494752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553262293	chr2:54494763-54494764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79130016	chr2:54494863-54494864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144518948	chr2:54494882-54494883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547350113	chr2:54494883-54494884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535282479	chr2:54494934-54494935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373147833	chr2:54494943-54494944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111702965	chr2:54494965-54494966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77360295	chr2:54494966-54494967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113723912	chr2:54494993-54494994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142868090	chr2:54495037-54495038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537807917	chr2:54495046-54495047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557755228	chr2:54495070-54495071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576693845	chr2:54495113-54495114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539333541	chr2:54495138-54495139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552879746	chr2:54495165-54495166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190933939	chr2:54495189-54495190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7579722	chr2:54495222-54495223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs536068762	chr2:54495239-54495240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561588426	chr2:54495241-54495242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575319128	chr2:54495320-54495321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544192561	chr2:54495391-54495392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371180922	chr2:54495421-54495422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564054173	chr2:54495439-54495440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532984575	chr2:54495462-54495463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115805774	chr2:54495524-54495525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151070483	chr2:54495525-54495526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555660228	chr2:54495528-54495529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529423681	chr2:54495537-54495538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575761371	chr2:54495629-54495630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549560455	chr2:54495732-54495733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577385127	chr2:54495778-54495779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111444492	chr2:54495783-54495784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78299168	chr2:54495794-54495795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34122735	chr2:54495797-54495798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75844661	chr2:54495798-54495799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140927307	chr2:54495816-54495817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551496182	chr2:54495820-54495821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571286423	chr2:54495863-54495864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184030029	chr2:54495876-54495877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543146235	chr2:54495894-54495895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144950068	chr2:54495895-54495896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34258585	chr2:54496016-54496017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573101869	chr2:54496031-54496032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54449800-54535200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:54481000-54502600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:54483400-54521200	Weak transcription	Pancreas	Pancrea
4	chr2:54486600-54496000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:54488200-54514600	Weak transcription	Aorta	Aorta
6	chr2:54489400-54495600	Weak transcription	Left Ventricle	heart
7	chr2:54489400-54501400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:54491000-54501200	Weak transcription	HSMM	muscle
9	chr2:54492000-54498400	Weak transcription	Primary B cells from cord blood	blood
10	chr2:54494200-54494800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:54494400-54495200	Enhancers	Psoas Muscle	Psoas
12	chr2:54494600-54495000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:54494600-54495000	Enhancers	Adipose Nuclei	Adipose
14	chr2:54494600-54495400	Enhancers	Brain Angular Gyrus	brain
15	chr2:54494800-54495400	Enhancers	Brain Anterior Caudate	brain
16	chr2:54494800-54496600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:54495000-54500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:54495200-54503400	Weak transcription	Psoas Muscle	Psoas
19	chr2:54495400-54496200	Weak transcription	Brain Angular Gyrus	brain
20	chr2:54495400-54501400	Weak transcription	Brain Anterior Caudate	brain
21	chr2:54495600-54496000	Enhancers	Left Ventricle	heart
22	chr2:54496000-54501600	Weak transcription	Left Ventricle	heart
23	chr2:54496200-54496600	Enhancers	Brain Angular Gyrus	brain
24	chr2:54496600-54496800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:54496600-54497800	Weak transcription	Brain Angular Gyrus	brain
26	chr2:54498000-54498200	Enhancers	Fetal Intestine Small	intestine
27	chr2:54498200-54498400	Enhancers	Fetal Intestine Large	intestine
28	chr2:54498200-54500800	Weak transcription	Fetal Intestine Small	intestine
29	chr2:54498400-54498800	Enhancers	GM12878-XiMat	blood
30	chr2:54498400-54500200	Enhancers	Primary B cells from cord blood	blood
31	chr2:54498400-54500200	Enhancers	Primary B cells from peripheral blood	blood
32	chr2:54498400-54502400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:54498600-54500200	Enhancers	Dnd41	blood
34	chr2:54498800-54499200	Flanking Active TSS	GM12878-XiMat	blood
35	chr2:54498800-54499600	Enhancers	HepG2	liver
36	chr2:54499200-54499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:54499200-54499800	Enhancers	GM12878-XiMat	blood
38	chr2:54499200-54504000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:54499400-54502600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:54499800-54500000	Enhancers	Brain Hippocampus Middle	brain
41	chr2:54500000-54502000	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:54500200-54500800	Weak transcription	Dnd41	blood
43	chr2:54500200-54511800	Weak transcription	Primary B cells from cord blood	blood
44	chr2:54500200-54517800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:54500800-54501000	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr2:54500800-54501600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:54500800-54501600	ZNF genes & repeats	Dnd41	blood
48	chr2:54501200-54501400	Enhancers	HSMM	muscle
49	chr2:54501400-54501600	Enhancers	Brain Anterior Caudate	brain
50	chr2:54501400-54501600	Enhancers	Fetal Muscle Leg	muscle

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