Variant report

Variant	nsv524969
Chromosome Location	chr2:10969564-10971017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10968173..10970876-chr2:11621344..11624039,2	MCF-7	breast:
2	chr2:10951152..10953579-chr2:10968229..10970049,2	MCF-7	breast:
3	chr2:10958613..10961518-chr2:10969004..10971574,2	K562	blood:
4	chr2:10968492..10971242-chr2:10972416..10974163,2	MCF-7	breast:
5	chr2:10951075..10954804-chr2:10970791..10972657,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143870	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1686486	chr2:10969564-10969565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73174526	chr2:10969640-10969641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556531207	chr2:10969646-10969647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112329893	chr2:10969662-10969663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115192489	chr2:10969670-10969671	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs56344711	chr2:10969688-10969689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150144317	chr2:10969709-10969710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569745369	chr2:10969740-10969741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535779320	chr2:10969765-10969766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553292270	chr2:10969820-10969821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35026985	chr2:10969847-10969848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540080768	chr2:10969871-10969872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187316826	chr2:10969894-10969895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564749637	chr2:10969942-10969943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376953537	chr2:10969975-10969976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10170428	chr2:10969988-10969989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371405400	chr2:10970015-10970016	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147842646	chr2:10970027-10970028	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530140494	chr2:10970066-10970067	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542219495	chr2:10970069-10970070	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560612931	chr2:10970078-10970079	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1734442	chr2:10970102-10970103	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs17365477	chr2:10970124-10970125	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs571026233	chr2:10970134-10970135	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11687961	chr2:10970156-10970157	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141466288	chr2:10970157-10970158	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs71325732	chr2:10970159-10970160	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1734441	chr2:10970160-10970161	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554135023	chr2:10970176-10970177	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs62120277	chr2:10970195-10970196	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs374180176	chr2:10970198-10970199	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533648308	chr2:10970211-10970212	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558343171	chr2:10970215-10970216	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2969887	chr2:10970237-10970238	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544059090	chr2:10970316-10970317	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs13415153	chr2:10970369-10970370	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190571884	chr2:10970370-10970371	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1686484	chr2:10970473-10970474	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs112510815	chr2:10970491-10970492	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375864970	chr2:10970550-10970551	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs1734439	chr2:10970571-10970572	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116206779	chr2:10970618-10970619	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531962106	chr2:10970657-10970658	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543390911	chr2:10970679-10970680	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183552977	chr2:10970738-10970739	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115202974	chr2:10970816-10970817	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564888518	chr2:10970883-10970884	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547641121	chr2:10970888-10970889	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566153459	chr2:10970900-10970901	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533512650	chr2:10970958-10970959	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10961200-10972400	Weak transcription	Right Atrium	heart
2	chr2:10963600-10971800	Weak transcription	Brain Anterior Caudate	brain
3	chr2:10968200-10973000	Enhancers	Liver	Liver
4	chr2:10968200-10973200	Enhancers	Spleen	Spleen
5	chr2:10968400-10972400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:10968600-10971000	Enhancers	Gastric	stomach
7	chr2:10968800-10970200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:10968800-10972400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:10969000-10970800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:10969200-10971000	Enhancers	Stomach Mucosa	stomach
11	chr2:10969400-10970600	Enhancers	Pancreas	Pancrea
12	chr2:10969600-10970400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:10970000-10970400	Bivalent Enhancer	Colonic Mucosa	Colon
14	chr2:10970000-10970800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
15	chr2:10970000-10973200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:10970200-10970600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
17	chr2:10970200-10972600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:10970200-10973600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr2:10970600-10972400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:10970600-10972400	Weak transcription	Pancreas	Pancrea
21	chr2:10970800-10975200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:10971000-10972400	Weak transcription	Gastric	stomach
23	chr2:10971000-10972600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:10971000-10973000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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