Variant report

Variant	nsv527868
Chromosome Location	chr2:10394082-10395944
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10382224..10385160-chr2:10393761..10396666,3	K562	blood:
2	chr2:10393161..10396056-chr2:10408396..10410670,2	K562	blood:
3	chr2:10394556..10396189-chr2:10409170..10411649,3	K562	blood:
4	chr2:10381793..10384669-chr2:10393531..10396356,3	K562	blood:
5	chr2:10394375..10395994-chr2:10546875..10548738,2	K562	blood:
6	chr2:10395441..10397199-chr2:10398959..10400526,2	K562	blood:
7	chr2:10393987..10396865-chr2:10417626..10420147,4	K562	blood:
8	chr2:10390359..10393912-chr2:10395616..10397789,3	MCF-7	breast:
9	chr2:10390216..10392026-chr2:10392709..10394870,2	K562	blood:
10	chr2:10393925..10395521-chr2:10443524..10445686,2	K562	blood:
11	chr2:10261572..10264227-chr2:10394893..10397118,2	MCF-7	breast:
12	chr2:10393383..10395595-chr2:10425523..10427994,2	MCF-7	breast:
13	chr2:10393816..10396195-chr2:10396463..10398595,2	MCF-7	breast:
14	chr2:10393518..10395785-chr2:10396578..10398775,3	K562	blood:
15	chr2:10392892..10396055-chr2:10586861..10589824,3	K562	blood:
16	chr2:10392904..10395765-chr2:10528915..10531340,2	K562	blood:
17	chr2:10393127..10396055-chr2:10588104..10589824,2	K562	blood:
18	chr2:10394552..10396984-chr2:10589964..10592378,2	K562	blood:
19	chr2:10392345..10395188-chr2:10407318..10409008,2	K562	blood:
20	chr2:10382805..10384733-chr2:10392975..10395237,2	MCF-7	breast:
21	chr2:10393925..10398726-chr2:10441942..10445686,4	K562	blood:
22	chr2:10392994..10395994-chr2:10546875..10548738,3	K562	blood:
23	chr2:10394157..10396963-chr2:10408123..10409745,2	MCF-7	breast:
24	chr2:10392294..10394554-chr2:10441498..10444201,2	MCF-7	breast:
25	chr2:10393709..10396218-chr2:10398784..10401137,2	MCF-7	breast:
26	chr2:10393158..10395246-chr2:10447953..10450764,2	K562	blood:
27	chr2:10392978..10395026-chr2:10400491..10403143,2	K562	blood:
28	chr2:10395837..10396338-chr5:40828572..40829072,2	Hela-S3	cervix:

No data

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

Extended variants
information (count: 94 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs887958	chr2:10394082-10394083	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188602594	chr2:10394096-10394097	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs555099494	chr2:10394135-10394136	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs7603928	chr2:10394228-10394229	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs7576735	chr2:10394252-10394253	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs181070794	chr2:10394255-10394256	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs531649932	chr2:10394260-10394261	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs7576747	chr2:10394269-10394270	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs539216272	chr2:10394274-10394275	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs568930883	chr2:10394280-10394281	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs556502130	chr2:10394283-10394284	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs118150205	chr2:10394291-10394292	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs79288622	chr2:10394304-10394305	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs145396856	chr2:10394308-10394309	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs576453065	chr2:10394309-10394310	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs542138420	chr2:10394342-10394343	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs17379489	chr2:10394348-10394349	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114928831	chr2:10394364-10394365	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs35668359	chr2:10394425-10394426	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs370523971	chr2:10394426-10394427	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs56125001	chr2:10394443-10394444	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185279005	chr2:10394454-10394455	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs373317889	chr2:10394473-10394474	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs11695911	chr2:10394490-10394491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116554220	chr2:10394496-10394497	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs532291819	chr2:10394537-10394538	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs887959	chr2:10394558-10394559	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569163037	chr2:10394559-10394560	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs149158547	chr2:10394565-10394566	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs190626929	chr2:10394566-10394567	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs548384331	chr2:10394584-10394585	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs374603132	chr2:10394591-10394592	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs567017907	chr2:10394644-10394645	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs11690100	chr2:10394652-10394653	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs559210701	chr2:10394653-10394654	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs370923549	chr2:10394667-10394668	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs578131851	chr2:10394680-10394681	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs571131649	chr2:10394681-10394682	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs13419753	chr2:10394724-10394725	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs543654508	chr2:10394741-10394742	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs556873164	chr2:10394758-10394759	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs575119775	chr2:10394776-10394777	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs1109447	chr2:10394810-10394811	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs374299048	chr2:10394886-10394887	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs182413265	chr2:10394908-10394909	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs373521139	chr2:10394946-10394947	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs572635062	chr2:10394992-10394993	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs540007075	chr2:10394997-10394998	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs564761942	chr2:10395108-10395109	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs187043278	chr2:10395119-10395120	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Neuroblastoma	18923524	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10391600-10394400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:10392400-10394200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:10392600-10395800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:10392800-10394400	Enhancers	Placenta	Placenta
5	chr2:10392800-10399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:10392800-10407600	Weak transcription	Gastric	stomach
7	chr2:10393000-10395000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:10393000-10395200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:10393200-10394200	Enhancers	K562	blood
10	chr2:10393400-10397800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr2:10393600-10394800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:10393600-10395200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:10393800-10394400	Enhancers	Lung	lung
14	chr2:10393800-10394800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:10393800-10394800	Weak transcription	Spleen	Spleen
16	chr2:10393800-10395000	Enhancers	Fetal Muscle Leg	muscle
17	chr2:10393800-10395600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:10393800-10396200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:10393800-10396200	Enhancers	Hela-S3	cervix
20	chr2:10394200-10394600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:10394200-10395200	Enhancers	Fetal Intestine Large	intestine
22	chr2:10394200-10395400	Flanking Active TSS	K562	blood
23	chr2:10394200-10395600	Enhancers	A549	lung
24	chr2:10394400-10395200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:10394400-10395200	Enhancers	HSMM	muscle
26	chr2:10394400-10396000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:10394400-10396000	Bivalent Enhancer	Placenta	Placenta
28	chr2:10394600-10394800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr2:10394600-10394800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:10394600-10395000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:10394600-10395400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:10394600-10397200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:10394800-10395200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:10394800-10395200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr2:10394800-10395200	Bivalent Enhancer	HepG2	liver
36	chr2:10394800-10395400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
37	chr2:10394800-10395400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:10394800-10396000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:10394800-10396600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:10394800-10396800	Enhancers	Spleen	Spleen
41	chr2:10395000-10395200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr2:10395000-10395200	Enhancers	HSMMtube	muscle
43	chr2:10395000-10396600	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr2:10395200-10395600	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr2:10395200-10395800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr2:10395200-10396000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:10395200-10399800	Weak transcription	Fetal Intestine Large	intestine
48	chr2:10395200-10400400	Weak transcription	HSMM	muscle
49	chr2:10395200-10401200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:10395400-10396000	Enhancers	K562	blood

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