Variant report

Variant	nsv873636
Chromosome Location	chr2:10300390-10331919
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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10303041..10305346-chr2:10310124..10311738,2	MCF-7	breast:
2	chr2:10282168..10283119-chr2:10328456..10329013,3	MCF-7	breast:
3	chr2:10302897..10304868-chr2:10308947..10311458,3	K562	blood:
4	chr2:10302901..10305330-chr2:10325922..10328605,2	K562	blood:
5	chr2:10295754..10297354-chr2:10298419..10300657,2	K562	blood:
6	chr2:10302901..10305330-chr2:10325922..10328605,2	K562	blood:
7	chr2:10299807..10303440-chr2:10586234..10589711,3	K562	blood:
8	chr2:10311566..10313814-chr2:10315451..10318799,4	K562	blood:
9	chr2:10275050..10276633-chr2:10298060..10300888,2	K562	blood:
10	chr2:10328190..10329252-chr2:10575138..10575869,4	MCF-7	breast:
11	chr2:10328447..10328994-chr2:10426584..10427446,2	MCF-7	breast:
12	chr2:10325813..10327549-chr2:10329142..10331851,2	K562	blood:
13	chr2:10303041..10305346-chr2:10310124..10311738,2	MCF-7	breast:
14	chr2:10305391..10309576-chr2:10311864..10315375,4	K562	blood:
15	chr2:10307132..10308856-chr2:10309246..10312137,2	MCF-7	breast:
16	chr2:10328419..10328932-chr2:10445333..10446204,3	MCF-7	breast:
17	chr2:10299318..10302918-chr2:10305124..10307341,4	K562	blood:
18	chr2:10306251..10307952-chr2:10310022..10311795,2	K562	blood:
19	chr2:10306251..10307952-chr2:10309148..10311795,2	K562	blood:
20	chr2:10306251..10307952-chr2:10309148..10311795,2	K562	blood:
21	chr2:10305391..10309576-chr2:10311864..10315375,4	K562	blood:
22	chr2:10260668..10263608-chr2:10310509..10313145,2	K562	blood:
23	chr2:10328421..10328930-chr2:10442179..10443004,2	MCF-7	breast:
24	chr2:10325813..10328227-chr2:10329027..10331851,2	K562	blood:
25	chr2:10299318..10302918-chr2:10305124..10307341,4	K562	blood:
26	chr2:10325813..10327549-chr2:10329142..10331851,2	K562	blood:
27	chr2:10318881..10321554-chr2:10323338..10324897,2	MCF-7	breast:
28	chr2:10328469..10328995-chr2:10574784..10575648,2	MCF-7	breast:
29	chr2:10302897..10304868-chr2:10308947..10311458,3	K562	blood:
30	chr2:10328455..10329154-chr2:10549215..10549757,2	K562	blood:
31	chr2:10328063..10328629-chr2:10575089..10575716,3	K562	blood:
32	chr2:10326584..10329033-chr2:10441051..10443274,2	MCF-7	breast:
33	chr2:10306251..10307952-chr2:10310022..10311795,2	K562	blood:
34	chr2:10292229..10297354-chr2:10297861..10300566,4	K562	blood:
35	chr2:10326687..10328532-chr2:10350704..10352850,2	K562	blood:
36	chr2:10328150..10328991-chr2:10548904..10549863,5	MCF-7	breast:
37	chr2:10274694..10277257-chr2:10316556..10318729,2	MCF-7	breast:
38	chr2:10267037..10269007-chr2:10310464..10312919,2	K562	blood:
39	chr2:10328066..10328890-chr2:10443478..10444354,3	MCF-7	breast:
40	chr2:10328070..10328961-chr2:10549008..10550652,5	MCF-7	breast:
41	chr2:10311566..10313814-chr2:10315451..10318799,4	K562	blood:
42	chr2:10272274..10274991-chr2:10298937..10301947,3	K562	blood:
43	chr2:10320031..10321774-chr2:10324619..10326821,2	K562	blood:
44	chr2:10212496..10213272-chr2:10328166..10328691,2	K562	blood:
45	chr2:10318881..10321554-chr2:10323338..10324897,2	MCF-7	breast:
46	chr2:10307132..10308856-chr2:10309246..10312137,2	MCF-7	breast:
47	chr2:10320031..10321774-chr2:10324619..10326821,2	K562	blood:
48	chr2:10325813..10328227-chr2:10329027..10331851,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206633	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000206647	chromatin interactions
ENSG00000257135	chromatin interactions
ENSG00000115756	chromatin interactions

Extended variants
information (count: 1380 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1380 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7593918	chr2:10300390-10300391	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369860525	chr2:10300396-10300397	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs34820730	chr2:10300412-10300413	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs569206781	chr2:10300546-10300547	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs56091763	chr2:10300553-10300554	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs551155020	chr2:10300582-10300583	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs79972207	chr2:10300691-10300692	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs571356084	chr2:10300692-10300693	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs6742418	chr2:10300736-10300737	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148717127	chr2:10300741-10300742	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs573372783	chr2:10300757-10300758	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs535878994	chr2:10300763-10300764	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs377371765	chr2:10300771-10300772	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs79512904	chr2:10300779-10300780	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs141431511	chr2:10300784-10300785	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs544582441	chr2:10300875-10300876	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs564763295	chr2:10300890-10300891	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs553282687	chr2:10300898-10300899	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs540796179	chr2:10301002-10301003	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs560407604	chr2:10301006-10301007	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs150847500	chr2:10301026-10301027	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs139587136	chr2:10301032-10301033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs566797228	chr2:10301063-10301064	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs186651411	chr2:10301097-10301098	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs562865758	chr2:10301142-10301143	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs190425721	chr2:10301156-10301157	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs551394581	chr2:10301192-10301193	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs571484449	chr2:10301225-10301226	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs7578469	chr2:10301250-10301251	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs367620055	chr2:10301251-10301252	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs371550813	chr2:10301270-10301271	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs567063666	chr2:10301278-10301279	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs6728484	chr2:10301286-10301287	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555795002	chr2:10301357-10301358	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs575643972	chr2:10301437-10301438	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs146592705	chr2:10301463-10301464	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs140133168	chr2:10301496-10301497	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs72786680	chr2:10301567-10301568	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540346807	chr2:10301570-10301571	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs575697346	chr2:10301573-10301574	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs76765357	chr2:10301583-10301584	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs13400683	chr2:10301591-10301592	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543145301	chr2:10301604-10301605	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs114968753	chr2:10301608-10301609	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs13389178	chr2:10301617-10301618	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545358893	chr2:10301660-10301661	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs565061505	chr2:10301695-10301696	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs370848597	chr2:10301723-10301724	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs114752460	chr2:10301740-10301741	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs561991628	chr2:10301741-10301742	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:10276400-10307400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:10276600-10301800	Weak transcription	Osteobl	bone
5	chr2:10277600-10321600	Weak transcription	K562	blood
6	chr2:10278000-10302200	Weak transcription	HSMM	muscle
7	chr2:10278000-10311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:10282200-10316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:10285400-10302000	Weak transcription	HMEC	breast
10	chr2:10285600-10307400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:10285800-10310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:10286400-10301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
14	chr2:10286600-10304000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:10286800-10312400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:10287000-10301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:10287000-10303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:10287000-10312000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:10288400-10307600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:10290200-10300400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:10290200-10351400	Strong transcription	Dnd41	blood
22	chr2:10293000-10307600	Weak transcription	Gastric	stomach
23	chr2:10293400-10302800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:10295400-10306400	Strong transcription	Thymus	Thymus
25	chr2:10296000-10302000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:10296000-10303800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:10296200-10300600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:10296200-10310200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:10296200-10314400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:10296400-10310400	Weak transcription	Hela-S3	cervix
31	chr2:10296400-10312400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:10296400-10312600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:10296800-10303600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:10296800-10304400	Weak transcription	HepG2	liver
35	chr2:10296800-10309800	Weak transcription	A549	lung
36	chr2:10297000-10300600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:10298400-10300600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:10298800-10300800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr2:10299000-10300400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:10299000-10300600	Genic enhancers	Fetal Thymus	thymus
41	chr2:10299000-10303800	Enhancers	Fetal Intestine Large	intestine
42	chr2:10299000-10304200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:10299200-10300400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:10299200-10300800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:10299200-10305200	Enhancers	HUVEC	blood vessel
46	chr2:10299400-10300400	Enhancers	NH-A	brain
47	chr2:10299400-10300600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr2:10299400-10300600	Enhancers	Fetal Lung	lung
49	chr2:10299400-10300600	Enhancers	Fetal Stomach	stomach
50	chr2:10299400-10301200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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