Variant report

Variant	nsv960954
Chromosome Location	chr2:10239771-10244547
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10239469..10241200-chr2:10261224..10264075,2	MCF-7	breast:
2	chr2:10242960..10244599-chr2:10260490..10262754,3	MCF-7	breast:
3	chr2:10241471..10243524-chr2:10274993..10276602,2	K562	blood:
4	chr2:10226219..10228949-chr2:10237656..10240255,3	K562	blood:
5	chr2:10239900..10242865-chr2:10264207..10266171,2	K562	blood:
6	chr2:10243459..10247152-chr2:10258023..10263233,5	K562	blood:
7	chr2:10238235..10241032-chr2:10272026..10274970,3	K562	blood:
8	chr2:10242851..10244392-chr2:10246100..10248698,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272524	chromatin interactions
ENSG00000171848	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530067700	chr2:10239814-10239815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139238829	chr2:10239831-10239832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11886661	chr2:10239944-10239945	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144050982	chr2:10239949-10239950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529339947	chr2:10239959-10239960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552471908	chr2:10239967-10239968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540769712	chr2:10239974-10239975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565900393	chr2:10239978-10239979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560386869	chr2:10240033-10240034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184019502	chr2:10240069-10240070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188356384	chr2:10240116-10240117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs11897268	chr2:10240175-10240176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs180910913	chr2:10240231-10240232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35969026	chr2:10240296-10240297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144985300	chr2:10240323-10240324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs571540780	chr2:10240338-10240339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538966373	chr2:10240355-10240356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs6718086	chr2:10240376-10240377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs36043448	chr2:10240408-10240409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34679431	chr2:10240445-10240446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35743199	chr2:10240511-10240512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs202071821	chr2:10240520-10240521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530856802	chr2:10240549-10240550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541590765	chr2:10240557-10240558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6747553	chr2:10240565-10240566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575466111	chr2:10240609-10240610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574887076	chr2:10240695-10240696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148664861	chr2:10240713-10240714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538025257	chr2:10240718-10240719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185022575	chr2:10240789-10240790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532517688	chr2:10240806-10240807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190749444	chr2:10240848-10240849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535872270	chr2:10240889-10240890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552989733	chr2:10240935-10240936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559578618	chr2:10240939-10240940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142197391	chr2:10240971-10240972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566458097	chr2:10241000-10241001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs151232439	chr2:10241023-10241024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568120149	chr2:10241065-10241066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538820251	chr2:10241091-10241092	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141537577	chr2:10241108-10241109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570127930	chr2:10241138-10241139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539031677	chr2:10241139-10241140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115319164	chr2:10241217-10241218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369452701	chr2:10241266-10241267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182092814	chr2:10241280-10241281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147042804	chr2:10241312-10241313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555150165	chr2:10241341-10241342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574908428	chr2:10241373-10241374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543950621	chr2:10241449-10241450	Weak transcription Enhancers	n/a	n/a	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10232000-10240200	Weak transcription	Right Atrium	heart
2	chr2:10232000-10242600	Weak transcription	Pancreas	Pancrea
3	chr2:10237200-10245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:10237600-10241400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:10237600-10241400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:10238000-10241400	Weak transcription	GM12878-XiMat	blood
7	chr2:10238000-10241600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:10238000-10241600	Weak transcription	Left Ventricle	heart
9	chr2:10238000-10243000	Weak transcription	K562	blood
10	chr2:10238000-10243200	Weak transcription	Fetal Intestine Small	intestine
11	chr2:10238000-10243400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:10238000-10243400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:10238000-10244600	Weak transcription	A549	lung
14	chr2:10238200-10243400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:10239800-10242000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:10240000-10240200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:10240200-10242200	Enhancers	Right Atrium	heart
18	chr2:10240200-10243400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:10240800-10241000	Enhancers	Lung	lung
20	chr2:10240800-10241200	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:10241000-10241800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:10241000-10242200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:10241200-10241600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:10241400-10242200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:10241400-10242200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:10241400-10242200	Enhancers	GM12878-XiMat	blood
27	chr2:10241600-10241800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:10241600-10241800	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:10241600-10241800	Enhancers	Fetal Heart	heart
30	chr2:10241600-10241800	Enhancers	Left Ventricle	heart
31	chr2:10241600-10241800	Enhancers	Lung	lung
32	chr2:10241600-10242200	Enhancers	Fetal Lung	lung
33	chr2:10241600-10242200	Enhancers	Right Ventricle	heart
34	chr2:10241600-10242200	Enhancers	Spleen	Spleen
35	chr2:10241800-10242000	Enhancers	Stomach Smooth Muscle	stomach
36	chr2:10241800-10243400	Weak transcription	Left Ventricle	heart
37	chr2:10241800-10243600	Weak transcription	Fetal Heart	heart
38	chr2:10241800-10243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:10241800-10244400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:10242000-10242200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:10242200-10246000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:10242200-10260200	Weak transcription	Right Atrium	heart
43	chr2:10243000-10244400	Enhancers	K562	blood
44	chr2:10243200-10243800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:10243200-10246000	Enhancers	Fetal Intestine Small	intestine
46	chr2:10243400-10243800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:10243400-10243800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:10243400-10243800	Enhancers	Left Ventricle	heart
49	chr2:10243400-10244000	Enhancers	Fetal Muscle Trunk	muscle
50	chr2:10243400-10246200	Enhancers	Fetal Intestine Large	intestine

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