Variant report

Variant	nsv962058
Chromosome Location	chr2:10350771-10376962
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10333815..10336556-chr2:10366578..10368507,2	MCF-7	breast:
2	chr2:10363587..10365584-chr2:10371559..10374081,2	K562	blood:
3	chr2:10365290..10368319-chr2:10370625..10373445,3	MCF-7	breast:
4	chr2:10332239..10334977-chr2:10351210..10352772,2	K562	blood:
5	chr2:10326687..10328532-chr2:10350704..10352850,2	K562	blood:
6	chr2:10376539..10378609-chr2:10444548..10446781,3	K562	blood:
7	chr2:10357831..10359607-chr2:10365467..10367215,2	K562	blood:
8	chr2:10356862..10358929-chr2:10359866..10361666,2	K562	blood:
9	chr2:10367671..10369522-chr2:10589318..10591313,2	K562	blood:
10	chr2:10359472..10362167-chr2:10583974..10586621,2	K562	blood:
11	chr2:10366036..10368819-chr2:10586040..10588858,2	K562	blood:
12	chr2:10359643..10362171-chr2:10579070..10581168,2	K562	blood:
13	chr2:10261164..10264100-chr2:10354811..10357552,3	K562	blood:
14	chr2:10350742..10353533-chr2:10359619..10362115,2	K562	blood:
15	chr2:10357831..10359607-chr2:10365467..10367215,2	K562	blood:
16	chr2:10370836..10374601-chr2:10463376..10467418,3	K562	blood:
17	chr2:10260780..10262972-chr2:10358625..10360506,2	K562	blood:
18	chr2:10357604..10359556-chr2:10380335..10382932,2	MCF-7	breast:
19	chr2:10364084..10367061-chr2:10372581..10374808,2	K562	blood:
20	chr2:10261461..10263883-chr2:10362075..10364211,2	MCF-7	breast:
21	chr2:10356862..10358929-chr2:10359866..10361666,2	K562	blood:
22	chr2:10363587..10365584-chr2:10371559..10374081,2	K562	blood:
23	chr2:10347041..10349707-chr2:10357445..10360186,3	K562	blood:
24	chr2:10372926..10376124-chr2:10586887..10589530,3	K562	blood:
25	chr2:10352602..10354236-chr2:10355542..10357562,2	K562	blood:
26	chr2:10343616..10346370-chr2:10368491..10370304,2	MCF-7	breast:
27	chr2:10346566..10348332-chr2:10349003..10351471,2	K562	blood:
28	chr2:10364084..10367061-chr2:10372581..10374808,2	K562	blood:
29	chr2:10347644..10349586-chr2:10352760..10354903,2	K562	blood:
30	chr2:10372607..10375030-chr2:10377029..10379105,2	K562	blood:
31	chr2:10376915..10378477-chr2:10380255..10383214,2	K562	blood:
32	chr2:10350742..10353533-chr2:10359619..10362115,2	K562	blood:
33	chr2:10367576..10370568-chr2:10435265..10436937,2	MCF-7	breast:
34	chr2:10363646..10365657-chr2:10382522..10385441,2	K562	blood:
35	chr2:10347436..10349144-chr2:10352466..10354903,2	K562	blood:
36	chr2:10261164..10264100-chr2:10354811..10357057,2	K562	blood:
37	chr2:10344349..10346575-chr2:10349485..10351710,2	MCF-7	breast:
38	chr2:10352602..10354236-chr2:10355542..10357562,2	K562	blood:
39	chr2:10365290..10368319-chr2:10370625..10373445,3	MCF-7	breast:
40	chr2:10360606..10364064-chr2:10366598..10369959,4	K562	blood:
41	chr2:10360606..10364064-chr2:10366598..10369959,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265418	chromatin interactions
ENSG00000257135	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000115756	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000206898	chromatin interactions

Extended variants
information (count: 1261 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1261 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116526276	chr2:10350780-10350781	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565058051	chr2:10350790-10350791	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532374245	chr2:10350835-10350836	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550864318	chr2:10350844-10350845	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542209416	chr2:10350871-10350872	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187543815	chr2:10350904-10350905	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536606221	chr2:10350909-10350910	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193019100	chr2:10350951-10350952	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566902712	chr2:10350952-10350953	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374985878	chr2:10350981-10350982	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534015643	chr2:10351028-10351029	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555525216	chr2:10351119-10351120	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376443921	chr2:10351187-10351188	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114078404	chr2:10351223-10351224	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116060745	chr2:10351260-10351261	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575042923	chr2:10351330-10351331	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551663295	chr2:10351342-10351343	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34117526	chr2:10351372-10351373	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567397872	chr2:10351397-10351398	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542563832	chr2:10351415-10351416	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560719568	chr2:10351423-10351424	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572836963	chr2:10351471-10351472	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540309269	chr2:10351515-10351516	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184834700	chr2:10351519-10351520	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189783329	chr2:10351532-10351533	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550803269	chr2:10351540-10351541	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs180976271	chr2:10351549-10351550	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183608823	chr2:10351550-10351551	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189474007	chr2:10351592-10351593	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566734616	chr2:10351628-10351629	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533961922	chr2:10351677-10351678	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572389938	chr2:10351678-10351679	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552227005	chr2:10351686-10351687	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541155209	chr2:10351688-10351689	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs117565803	chr2:10351770-10351771	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181899156	chr2:10351781-10351782	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370527773	chr2:10351782-10351783	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575025009	chr2:10351808-10351809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12052992	chr2:10351818-10351819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146900445	chr2:10351835-10351836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7577583	chr2:10351852-10351853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75680434	chr2:10351857-10351858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186061122	chr2:10351989-10351990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs75448830	chr2:10352017-10352018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558644439	chr2:10352023-10352024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs563132587	chr2:10352065-10352066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577013683	chr2:10352150-10352151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs148368526	chr2:10352186-10352187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562530464	chr2:10352204-10352205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373739244	chr2:10352219-10352220	Weak transcription Enhancers	Chromatin interactive region	1 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
Breast cancer	22522925	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10290200-10351400	Strong transcription	Dnd41	blood
2	chr2:10338600-10351200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:10339400-10362000	Weak transcription	Fetal Intestine Small	intestine
4	chr2:10341800-10354400	Weak transcription	HepG2	liver
5	chr2:10343600-10360400	Weak transcription	HSMM	muscle
6	chr2:10345600-10352800	Weak transcription	Fetal Thymus	thymus
7	chr2:10347400-10356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:10348200-10350800	Enhancers	Fetal Muscle Leg	muscle
9	chr2:10349000-10351200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr2:10349800-10359400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:10349800-10362400	Weak transcription	Spleen	Spleen
12	chr2:10350200-10351000	Strong transcription	Thymus	Thymus
13	chr2:10350200-10351600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:10350400-10375200	Weak transcription	Right Atrium	heart
15	chr2:10350600-10351000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:10350800-10351200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:10350800-10352600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:10351000-10353600	Weak transcription	Thymus	Thymus
19	chr2:10351000-10354400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:10351200-10351800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:10351400-10353000	Weak transcription	Dnd41	blood
22	chr2:10351600-10351800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:10351800-10354400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:10351800-10357400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:10352600-10356200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:10354400-10354600	Enhancers	HepG2	liver
27	chr2:10354400-10354800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:10354400-10355000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:10354600-10355000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:10354600-10355000	Bivalent Enhancer	HepG2	liver
31	chr2:10354800-10355000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:10354800-10355000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr2:10354800-10357400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:10354800-10357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:10355000-10357600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:10355000-10358200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:10355400-10357200	Enhancers	K562	blood
38	chr2:10356000-10356200	Enhancers	Stomach Mucosa	stomach
39	chr2:10356000-10358000	Enhancers	Fetal Brain Male	brain
40	chr2:10356200-10358000	Bivalent Enhancer	HepG2	liver
41	chr2:10356200-10358600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:10356400-10357600	Enhancers	Brain Germinal Matrix	brain
43	chr2:10356400-10358400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:10356400-10358800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:10356800-10357000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:10356800-10357600	Enhancers	Osteobl	bone
47	chr2:10356800-10357800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:10356800-10357800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:10356800-10357800	Enhancers	NH-A	brain
50	chr2:10357000-10357200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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