Variant report

Variant	nsv2845
Chromosome Location	chr2:100421826-100466558
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100342124..100342677-chr2:100432974..100433546,2	MCF-7	breast:
2	chr2:100435040..100435951-chr2:100877088..100877597,2	MCF-7	breast:
3	chr2:100414983..100419771-chr2:100422906..100426417,4	MCF-7	breast:
4	chr2:100438595..100441140-chr2:100442686..100444862,2	K562	blood:
5	chr2:100435460..100437082-chr2:100859108..100860161,5	MCF-7	breast:
6	chr2:100426650..100429823-chr2:100433540..100436662,3	MCF-7	breast:
7	chr2:100435277..100437585-chr2:100558410..100560429,2	MCF-7	breast:
8	chr2:100337048..100339070-chr2:100424064..100425617,2	MCF-7	breast:
9	chr2:100341920..100342745-chr2:100437245..100438185,2	MCF-7	breast:
10	chr2:100426650..100429823-chr2:100433540..100436662,3	MCF-7	breast:
11	chr2:100438595..100441140-chr2:100442686..100444862,2	K562	blood:
12	chr2:100252844..100253666-chr2:100422970..100423881,3	MCF-7	breast:
13	chr2:100434940..100435869-chr2:100857680..100858532,2	MCF-7	breast:
14	chr2:100175279..100176212-chr2:100437562..100438657,5	MCF-7	breast:
15	chr2:100435483..100438030-chr2:100858556..100861072,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232084	chromatin interactions

Extended variants
information (count: 1688 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1688 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376094781	chr2:100421832-100421833	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113759882	chr2:100421835-100421836	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564816594	chr2:100421883-100421884	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533405000	chr2:100421900-100421901	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191268804	chr2:100421901-100421902	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72956176	chr2:100421907-100421908	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562939752	chr2:100421931-100421932	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575246934	chr2:100421994-100421995	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528996473	chr2:100422006-100422007	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184929343	chr2:100422014-100422015	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62147567	chr2:100422020-100422021	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79999743	chr2:100422048-100422049	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551255588	chr2:100422074-100422075	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190373302	chr2:100422076-100422077	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371761155	chr2:100422083-100422084	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537297173	chr2:100422084-100422085	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556642679	chr2:100422107-100422108	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576488157	chr2:100422108-100422109	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151122095	chr2:100422128-100422129	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555849747	chr2:100422204-100422205	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17436200	chr2:100422209-100422210	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541621841	chr2:100422261-100422262	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3072357	chr2:100422275-100422276	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370320167	chr2:100422276-100422277	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73964316	chr2:100422305-100422306	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57054788	chr2:100422313-100422314	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572489480	chr2:100422332-100422333	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375142642	chr2:100422333-100422334	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142513178	chr2:100422342-100422343	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562980349	chr2:100422344-100422345	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528837854	chr2:100422348-100422349	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548674447	chr2:100422361-100422362	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368466162	chr2:100422393-100422394	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144867470	chr2:100422496-100422497	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528137292	chr2:100422511-100422512	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531860186	chr2:100422520-100422521	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373750398	chr2:100422530-100422531	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185078944	chr2:100422591-100422592	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147588169	chr2:100422597-100422598	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530859048	chr2:100422602-100422603	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373278735	chr2:100422605-100422606	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567537308	chr2:100422645-100422646	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535863164	chr2:100422646-100422647	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555435342	chr2:100422677-100422678	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566166732	chr2:100422743-100422744	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534804012	chr2:100422755-100422756	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377426680	chr2:100422787-100422788	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558370443	chr2:100422803-100422804	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs577801633	chr2:100422825-100422826	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs549963893	chr2:100422832-100422833	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100415400-100423400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:100416400-100422800	Weak transcription	Primary T cells from cord blood	blood
3	chr2:100418200-100429400	Weak transcription	Fetal Lung	lung
4	chr2:100420400-100439400	Weak transcription	Fetal Brain Female	brain
5	chr2:100420800-100424200	Enhancers	NHDF-Ad	bronchial
6	chr2:100420800-100431800	Strong transcription	Primary B cells from cord blood	blood
7	chr2:100421000-100427600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:100421400-100423200	Weak transcription	Dnd41	blood
9	chr2:100421600-100422600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:100421600-100422800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:100421800-100426800	Enhancers	Osteobl	bone
12	chr2:100422000-100424200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:100422200-100422400	Enhancers	Fetal Heart	heart
14	chr2:100422200-100423800	Enhancers	Fetal Brain Male	brain
15	chr2:100422200-100424400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:100422200-100424600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:100422400-100423400	Weak transcription	Fetal Heart	heart
18	chr2:100422600-100423200	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr2:100422600-100424600	Enhancers	NH-A	brain
20	chr2:100422800-100423000	Bivalent Enhancer	Brain Germinal Matrix	brain
21	chr2:100422800-100423600	Enhancers	Lung	lung
22	chr2:100422800-100424000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:100422800-100424200	Strong transcription	Primary T cells from cord blood	blood
24	chr2:100423200-100423400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:100423200-100423400	Enhancers	HSMMtube	muscle
26	chr2:100423200-100424000	Strong transcription	Dnd41	blood
27	chr2:100423200-100424000	Enhancers	HSMM	muscle
28	chr2:100423200-100424600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:100423400-100423600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:100423400-100423800	Enhancers	Fetal Heart	heart
31	chr2:100423400-100424000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr2:100423600-100423800	Enhancers	Fetal Kidney	kidney
33	chr2:100423600-100426800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:100423600-100454600	Weak transcription	Lung	lung
35	chr2:100423800-100425800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:100423800-100428000	Weak transcription	Fetal Heart	heart
37	chr2:100423800-100434600	Weak transcription	Fetal Brain Male	brain
38	chr2:100424000-100425600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:100424000-100427200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:100424000-100428000	Weak transcription	HSMM	muscle
41	chr2:100424000-100443000	Weak transcription	Dnd41	blood
42	chr2:100424200-100425800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:100424200-100428000	Weak transcription	NHDF-Ad	bronchial
44	chr2:100424200-100436200	Weak transcription	Primary T cells from cord blood	blood
45	chr2:100424400-100425600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:100424600-100425000	Weak transcription	NH-A	brain
47	chr2:100424600-100425600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:100424600-100426000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:100424600-100426600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:100424600-100426800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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