Variant report

Variant	nsv873641
Chromosome Location	chr2:10480415-10544640
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:151)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:151 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr2:10515742..10520101-chr2:10520503..10524403,4	K562	blood:
2	chr2:10503657..10506625-chr2:10513228..10515872,3	K562	blood:
3	chr2:10488002..10489743-chr2:10503979..10506935,2	MCF-7	breast:
4	chr2:10524400..10527194-chr2:10542947..10545741,3	MCF-7	breast:
5	chr2:10480270..10481880-chr2:10548259..10550783,2	MCF-7	breast:
6	chr19:18705427..18706927-chr2:10498314..10500918,2	K562	blood:
7	chr2:10482073..10484136-chr2:10509588..10511163,2	K562	blood:
8	chr2:10477673..10479224-chr2:10494997..10496911,2	K562	blood:
9	chr2:10478597..10480494-chr2:10502284..10504436,2	MCF-7	breast:
10	chr2:10499610..10502140-chr2:10544416..10546465,2	K562	blood:
11	chr2:10528409..10530378-chr2:10546581..10548332,2	MCF-7	breast:
12	chr2:10507804..10510801-chr2:10512931..10515399,2	K562	blood:
13	chr2:10442930..10444506-chr2:10505937..10508189,2	MCF-7	breast:
14	chr2:10478597..10480494-chr2:10502284..10504436,2	MCF-7	breast:
15	chr2:10479084..10480668-chr2:10482824..10485763,2	MCF-7	breast:
16	chr2:10503657..10506625-chr2:10513228..10515872,3	K562	blood:
17	chr2:10518590..10520434-chr2:10524262..10527551,3	MCF-7	breast:
18	chr2:10496265..10497867-chr2:10525411..10526973,2	MCF-7	breast:
19	chr2:10510027..10511914-chr2:10528767..10530427,2	K562	blood:
20	chr2:10496112..10498077-chr2:10505585..10508477,2	K562	blood:
21	chr2:10495772..10497357-chr2:10549432..10551731,2	K562	blood:
22	chr2:10273219..10275582-chr2:10534083..10536706,2	K562	blood:
23	chr2:10499610..10502140-chr2:10544416..10546465,2	K562	blood:
24	chr2:10462014..10463806-chr2:10480462..10482399,2	K562	blood:
25	chr2:10487147..10491587-chr2:10493277..10497874,5	MCF-7	breast:
26	chr2:10471045..10473599-chr2:10487391..10488938,2	K562	blood:
27	chr2:10528701..10530809-chr2:10537442..10539772,2	K562	blood:
28	chr2:10479084..10480668-chr2:10482824..10485763,2	MCF-7	breast:
29	chr2:10493764..10496007-chr2:10502686..10505451,2	K562	blood:
30	chr2:10543950..10547023-chr2:10547884..10550475,4	MCF-7	breast:
31	chr2:10537407..10539660-chr2:10542991..10544767,2	MCF-7	breast:
32	chr2:10509481..10512029-chr2:10586825..10588333,2	K562	blood:
33	chr2:10535680..10537760-chr2:10586889..10589133,2	K562	blood:
34	chr2:10506679..10509442-chr2:10512559..10516524,3	MCF-7	breast:
35	chr2:10441262..10442820-chr2:10525916..10527574,2	MCF-7	breast:
36	chr2:10511165..10512779-chr2:10513925..10515799,2	K562	blood:
37	chr2:10510027..10511914-chr2:10528767..10530427,2	K562	blood:
38	chr2:10427792..10430069-chr2:10536723..10539558,2	MCF-7	breast:
39	chr2:10511279..10513509-chr2:10513925..10515682,2	K562	blood:
40	chr2:10501562..10504279-chr2:10507233..10508878,2	MCF-7	breast:
41	chr2:10511279..10513509-chr2:10513925..10515682,2	K562	blood:
42	chr2:10488849..10492741-chr2:10498228..10501695,3	MCF-7	breast:
43	chr2:10409644..10411196-chr2:10538400..10540753,2	MCF-7	breast:
44	chr2:10272230..10274773-chr2:10544365..10546593,2	MCF-7	breast:
45	chr2:10441653..10444560-chr2:10544064..10547799,5	MCF-7	breast:
46	chr2:10487432..10490206-chr2:10500170..10502436,2	K562	blood:
47	chr2:10475838..10478793-chr2:10479239..10481530,2	K562	blood:
48	chr2:10451225..10453181-chr2:10504350..10506528,2	K562	blood:
49	chr2:10497570..10499566-chr2:10501950..10504124,2	K562	blood:
50	chr2:10500322..10502134-chr2:10505796..10508720,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2orf48-2	chr2:10501282-10501495	predAs_chen_BG185876_1

No data

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

Extended variants
information (count: 2838 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2838 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6743846	chr2:10480415-10480416	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374369850	chr2:10480435-10480436	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551042245	chr2:10480453-10480454	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145073179	chr2:10480460-10480461	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530265556	chr2:10480471-10480472	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548504958	chr2:10480491-10480492	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567133978	chr2:10480506-10480507	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138878674	chr2:10480582-10480583	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528974291	chr2:10480614-10480615	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149805202	chr2:10480615-10480616	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6758955	chr2:10480637-10480638	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73161275	chr2:10480650-10480651	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34547163	chr2:10480663-10480664	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528718770	chr2:10480664-10480665	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575255013	chr2:10480686-10480687	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370569909	chr2:10480703-10480704	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536414959	chr2:10480745-10480746	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551930690	chr2:10480762-10480763	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374038966	chr2:10480777-10480778	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192996141	chr2:10480835-10480836	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540117937	chr2:10480854-10480855	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73161277	chr2:10480883-10480884	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76748106	chr2:10480890-10480891	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544281480	chr2:10480891-10480892	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535828212	chr2:10480945-10480946	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142115777	chr2:10480978-10480979	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548771882	chr2:10480981-10480982	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114663876	chr2:10480982-10480983	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73161279	chr2:10481001-10481002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115633150	chr2:10481018-10481019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185295930	chr2:10481029-10481030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538590124	chr2:10481055-10481056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550322523	chr2:10481076-10481077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568907674	chr2:10481082-10481083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535946204	chr2:10481172-10481173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7557360	chr2:10481231-10481232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7566472	chr2:10481235-10481236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs533781369	chr2:10481258-10481259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558381867	chr2:10481285-10481286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370770655	chr2:10481301-10481302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112325488	chr2:10481361-10481362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534806908	chr2:10481379-10481380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373999711	chr2:10481383-10481384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148156485	chr2:10481403-10481404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574804414	chr2:10481404-10481405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189826738	chr2:10481426-10481427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560615217	chr2:10481502-10481503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1819825	chr2:10481503-10481504	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114065906	chr2:10481507-10481508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564769314	chr2:10481509-10481510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:2903 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10467200-10482800	Weak transcription	Psoas Muscle	Psoas
2	chr2:10472200-10482600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:10472200-10494200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:10472400-10486200	Weak transcription	Esophagus	oesophagus
5	chr2:10473000-10483400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:10473000-10484400	Weak transcription	Right Atrium	heart
7	chr2:10473000-10484800	Weak transcription	Osteobl	bone
8	chr2:10473000-10486000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:10473000-10486000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:10473000-10486000	Weak transcription	HUVEC	blood vessel
11	chr2:10473000-10489200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:10473400-10484800	Weak transcription	Small Intestine	intestine
13	chr2:10473400-10496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:10473600-10487200	Weak transcription	Colonic Mucosa	Colon
15	chr2:10473800-10482400	Weak transcription	Left Ventricle	heart
16	chr2:10473800-10483400	Weak transcription	Ovary	ovary
17	chr2:10475600-10480600	Weak transcription	Spleen	Spleen
18	chr2:10475600-10481200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:10475600-10482400	Weak transcription	HSMM	muscle
20	chr2:10475600-10483800	Weak transcription	Fetal Lung	lung
21	chr2:10475600-10485200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:10475800-10480600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:10475800-10480800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:10475800-10481000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:10475800-10481600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:10475800-10482800	Weak transcription	Brain Anterior Caudate	brain
27	chr2:10475800-10482800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:10475800-10483000	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:10475800-10483800	Weak transcription	Primary B cells from cord blood	blood
30	chr2:10475800-10484000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:10475800-10484200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:10475800-10486200	Weak transcription	HSMMtube	muscle
33	chr2:10476000-10485200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:10476400-10488600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:10476600-10480800	Strong transcription	Fetal Intestine Small	intestine
36	chr2:10478000-10483400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:10478200-10483000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:10478400-10481000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr2:10478400-10481000	Enhancers	HMEC	breast
40	chr2:10478400-10484000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:10478600-10481400	Enhancers	NHEK	skin
42	chr2:10478600-10481800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:10478600-10481800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:10478800-10481600	Weak transcription	HepG2	liver
45	chr2:10478800-10482000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:10478800-10482600	Enhancers	Placenta	Placenta
47	chr2:10478800-10488400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:10479200-10480600	Strong transcription	Fetal Intestine Large	intestine
49	chr2:10479200-10480800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:10479200-10483400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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