Variant report

Variant	nsv1010971
Chromosome Location	chr2:100387986-100431935
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100392836..100396080-chr2:100396226..100398545,3	MCF-7	breast:
2	chr2:100252844..100253666-chr2:100422970..100423881,3	MCF-7	breast:
3	chr2:100414983..100419771-chr2:100422906..100426417,4	MCF-7	breast:
4	chr2:100396107..100398536-chr2:100399998..100402177,2	K562	blood:
5	chr2:100382265..100384877-chr2:100386362..100389420,3	K562	blood:
6	chr2:100380582..100383387-chr2:100384960..100390106,4	MCF-7	breast:
7	chr2:100397695..100400616-chr2:100402187..100404284,2	K562	blood:
8	chr2:100396107..100398536-chr2:100399998..100402177,2	K562	blood:
9	chr2:100337048..100339070-chr2:100424064..100425617,2	MCF-7	breast:
10	chr2:100393300..100395336-chr2:100401507..100403583,2	MCF-7	breast:
11	chr2:100391765..100393285-chr2:100403659..100406413,2	K562	blood:
12	chr2:100391765..100393285-chr2:100403659..100406413,2	K562	blood:
13	chr2:100414983..100419771-chr2:100422906..100426417,4	MCF-7	breast:
14	chr2:100392836..100396080-chr2:100396226..100398545,3	MCF-7	breast:
15	chr2:100426650..100429823-chr2:100433540..100436662,3	MCF-7	breast:
16	chr2:100397695..100400616-chr2:100402187..100404284,2	K562	blood:
17	chr2:100393300..100395336-chr2:100401507..100403583,2	MCF-7	breast:

No data

Extended variants
information (count: 1572 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1572 , 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	rs367860526	chr2:100388013-100388014	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189743695	chr2:100388028-100388029	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115190130	chr2:100388076-100388077	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75729219	chr2:100388119-100388120	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529344192	chr2:100388229-100388230	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543025529	chr2:100388247-100388248	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559911959	chr2:100388257-100388258	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528603893	chr2:100388258-100388259	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76691832	chr2:100388334-100388335	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374752660	chr2:100388353-100388354	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180676370	chr2:100388370-100388371	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370427348	chr2:100388414-100388415	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs138029905	chr2:100388491-100388492	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs187661298	chr2:100388499-100388500	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs567605000	chr2:100388515-100388516	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs28520449	chr2:100388555-100388556	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552570708	chr2:100388617-100388618	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs58317583	chr2:100388636-100388637	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368342915	chr2:100388657-100388658	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs17351577	chr2:100388670-100388671	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558320747	chr2:100388674-100388675	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs575440462	chr2:100388684-100388685	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs372064156	chr2:100388685-100388686	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs574689574	chr2:100388686-100388687	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs535746939	chr2:100388729-100388730	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs36003621	chr2:100388768-100388769	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs17023087	chr2:100388769-100388770	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs17023090	chr2:100388790-100388791	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574760125	chr2:100388865-100388866	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540501058	chr2:100388907-100388908	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs77171483	chr2:100388919-100388920	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs10206307	chr2:100388944-100388945	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545534187	chr2:100388952-100388953	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs191934873	chr2:100388983-100388984	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs62150108	chr2:100388985-100388986	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550741172	chr2:100389085-100389086	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs371462388	chr2:100389158-100389159	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs376533165	chr2:100389212-100389213	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530341445	chr2:100389230-100389231	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546847742	chr2:100389241-100389242	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368948125	chr2:100389265-100389266	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566465576	chr2:100389266-100389267	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141872054	chr2:100389306-100389307	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552287385	chr2:100389348-100389349	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375997173	chr2:100389402-100389403	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs6731353	chr2:100389494-100389495	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373071915	chr2:100389524-100389525	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs11123796	chr2:100389549-100389550	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554823433	chr2:100389572-100389573	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs545510298	chr2:100389586-100389587	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100357600-100389400	Weak transcription	Thymus	Thymus
2	chr2:100360000-100394600	Weak transcription	Dnd41	blood
3	chr2:100380000-100393200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:100382400-100390600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:100383800-100388600	Weak transcription	Ovary	ovary
6	chr2:100384200-100404400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:100386200-100390000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:100386400-100388000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:100386400-100388200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:100386400-100389600	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:100386600-100388800	Weak transcription	Fetal Kidney	kidney
12	chr2:100386800-100388200	Genic enhancers	Primary B cells from cord blood	blood
13	chr2:100386800-100388200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:100386800-100394600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:100387000-100388200	Weak transcription	Fetal Thymus	thymus
16	chr2:100387200-100388400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr2:100387200-100388400	Weak transcription	Right Atrium	heart
18	chr2:100387200-100389200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:100387200-100389400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:100387200-100391400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:100387400-100388400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:100387400-100388600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:100387400-100389200	Weak transcription	Placenta	Placenta
24	chr2:100387400-100390600	Enhancers	K562	blood
25	chr2:100387600-100389200	Weak transcription	Lung	lung
26	chr2:100387600-100392400	Weak transcription	Fetal Brain Female	brain
27	chr2:100388000-100388800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr2:100388200-100388600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr2:100388200-100389200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
30	chr2:100388200-100389600	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:100388200-100389800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:100388200-100389800	Enhancers	Colon Smooth Muscle	Colon
33	chr2:100388200-100390200	Enhancers	Fetal Thymus	thymus
34	chr2:100388400-100388600	Enhancers	Adipose Nuclei	Adipose
35	chr2:100388400-100389000	Enhancers	Fetal Brain Male	brain
36	chr2:100388400-100389600	Enhancers	Right Atrium	heart
37	chr2:100388400-100389800	Enhancers	Fetal Heart	heart
38	chr2:100388400-100390200	Enhancers	Fetal Lung	lung
39	chr2:100388400-100391200	Enhancers	Primary B cells from peripheral blood	blood
40	chr2:100388600-100389000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:100388600-100389600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:100388600-100389600	Enhancers	Ovary	ovary
43	chr2:100388600-100390600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:100388800-100389200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr2:100388800-100389400	Enhancers	Gastric	stomach
46	chr2:100388800-100389600	Enhancers	Fetal Kidney	kidney
47	chr2:100389000-100389800	Enhancers	Adipose Nuclei	Adipose
48	chr2:100389000-100393200	Weak transcription	Fetal Brain Male	brain
49	chr2:100389200-100389400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr2:100389200-100389600	Genic enhancers	Primary B cells from cord blood	blood

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