Variant report

Variant	nsv873656
Chromosome Location	chr2:10661047-10688969
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
2	chr2:10588254..10590396-chr2:10688188..10690335,2	K562	blood:
3	chr2:10660141..10662446-chr2:10692139..10693932,2	MCF-7	breast:
4	chr2:10638581..10640912-chr2:10660415..10663385,2	MCF-7	breast:
5	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
6	chr2:10636415..10638376-chr2:10688711..10690452,2	K562	blood:
7	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
8	chr2:10650088..10652035-chr2:10662005..10663540,2	MCF-7	breast:
9	chr2:10651055..10653921-chr2:10663036..10664618,2	K562	blood:
10	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
11	chr2:10688125..10690392-chr2:10697109..10699588,2	K562	blood:
12	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:
13	chr2:10641809..10644723-chr2:10673184..10675074,2	K562	blood:
14	chr2:10673867..10676091-chr2:10699484..10701243,2	K562	blood:
15	chr2:10587070..10589528-chr2:10671667..10675036,4	K562	blood:
16	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:
17	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
18	chr2:10587055..10588827-chr2:10683720..10686701,2	K562	blood:
19	chr2:10587440..10589528-chr2:10671667..10675036,3	K562	blood:
20	chr2:10660893..10663493-chr2:10697519..10700150,2	K562	blood:
21	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
22	chr2:10579413..10581262-chr2:10676249..10678549,2	K562	blood:
23	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
24	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
25	chr2:10586791..10590396-chr2:10688660..10691536,3	K562	blood:

No data

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

Extended variants
information (count: 1274 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1274 , 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	rs1405950	chr2:10661047-10661048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1362351	chr2:10661060-10661061	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1405951	chr2:10661063-10661064	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149523651	chr2:10661080-10661081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571592291	chr2:10661112-10661113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6724101	chr2:10661115-10661116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575480303	chr2:10661118-10661119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542815409	chr2:10661127-10661128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369112166	chr2:10661150-10661151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558100646	chr2:10661172-10661173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573473579	chr2:10661286-10661287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571605948	chr2:10661300-10661301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540992505	chr2:10661309-10661310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559111693	chr2:10661312-10661313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200547772	chr2:10661320-10661321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533041884	chr2:10661338-10661339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537323957	chr2:10661343-10661344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563472980	chr2:10661345-10661346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16856335	chr2:10661350-10661351	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545999612	chr2:10661380-10661381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58933510	chr2:10661421-10661422	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144162642	chr2:10661535-10661536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192104145	chr2:10661560-10661561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13015708	chr2:10661578-10661579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546952641	chr2:10661668-10661669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114976126	chr2:10661702-10661703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538737635	chr2:10661706-10661707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573574409	chr2:10661732-10661733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544092807	chr2:10661743-10661744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569018804	chr2:10661785-10661786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148707351	chr2:10661793-10661794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368854415	chr2:10661819-10661820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182736405	chr2:10661829-10661830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540602264	chr2:10661855-10661856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552922176	chr2:10661992-10661993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188036683	chr2:10662019-10662020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142292986	chr2:10662032-10662033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116504870	chr2:10662042-10662043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs887977	chr2:10662052-10662053	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200540078	chr2:10662064-10662065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10451539	chr2:10662107-10662108	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560954400	chr2:10662117-10662118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs36002474	chr2:10662124-10662125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528371999	chr2:10662146-10662147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546618338	chr2:10662178-10662179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565299846	chr2:10662199-10662200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532332060	chr2:10662285-10662286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550575513	chr2:10662361-10662362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12466300	chr2:10662366-10662367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536373567	chr2:10662429-10662430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10658600-10662400	Weak transcription	Spleen	Spleen
2	chr2:10658600-10662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:10658800-10661200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:10658800-10661400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:10659600-10661400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:10660200-10663200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:10660600-10662400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:10660600-10662400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:10660800-10661400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:10660800-10661400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:10661400-10661800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:10661400-10661800	Enhancers	Fetal Muscle Leg	muscle
13	chr2:10661400-10662000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:10661400-10662400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:10661400-10662400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:10661400-10662400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:10661600-10662400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:10661800-10662200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:10662400-10665200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:10662400-10665600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:10662600-10662800	Enhancers	Lung	lung
22	chr2:10662800-10663000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:10663000-10663200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr2:10663000-10663200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:10663000-10672000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:10663200-10663800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:10663800-10664400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:10664400-10666400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:10665200-10665600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:10665600-10665800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:10665600-10665800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr2:10665600-10665800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr2:10666200-10666800	Enhancers	Brain Germinal Matrix	brain
34	chr2:10666200-10667000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:10666200-10667000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:10666200-10667000	Enhancers	HMEC	breast
37	chr2:10666400-10666800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:10666400-10666800	Enhancers	NHEK	skin
39	chr2:10666400-10674200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:10670800-10672400	Enhancers	K562	blood
41	chr2:10671000-10671200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:10671200-10671400	Enhancers	NH-A	brain
43	chr2:10671200-10674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:10671400-10673000	Weak transcription	NH-A	brain
45	chr2:10672000-10672800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:10672000-10674400	Enhancers	Fetal Muscle Leg	muscle
47	chr2:10672400-10673400	Bivalent Enhancer	HepG2	liver
48	chr2:10672400-10675000	Enhancers	Fetal Muscle Trunk	muscle
49	chr2:10672400-10679800	Weak transcription	K562	blood
50	chr2:10672600-10673000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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