Variant report

Variant	nsv873654
Chromosome Location	chr2:10655141-10698364
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10654305..10656431-chr2:10657961..10660518,3	K562	blood:
2	chr2:10587055..10588827-chr2:10683720..10686701,2	K562	blood:
3	chr2:10660893..10663493-chr2:10697519..10700150,2	K562	blood:
4	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
5	chr2:10587070..10589528-chr2:10671667..10675036,4	K562	blood:
6	chr2:10692099..10694408-chr2:10696409..10700147,3	MCF-7	breast:
7	chr2:10692099..10694408-chr2:10696409..10700147,3	MCF-7	breast:
8	chr2:10688125..10690392-chr2:10697109..10699588,2	K562	blood:
9	chr2:10691848..10694045-chr2:10699355..10701357,2	K562	blood:
10	chr2:10641809..10644723-chr2:10673184..10675074,2	K562	blood:
11	chr2:10586791..10590396-chr2:10688660..10691536,3	K562	blood:
12	chr2:10654305..10656431-chr2:10657961..10660518,3	K562	blood:
13	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
14	chr2:10575377..10577320-chr2:10689005..10690678,2	K562	blood:
15	chr2:10688125..10690392-chr2:10697109..10699588,2	K562	blood:
16	chr2:10690817..10693702-chr2:10693915..10697831,3	K562	blood:
17	chr2:10673867..10676091-chr2:10699484..10701243,2	K562	blood:
18	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
19	chr2:10588254..10590396-chr2:10688188..10690335,2	K562	blood:
20	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
21	chr2:10578009..10580589-chr2:10689123..10691393,2	K562	blood:
22	chr2:10638581..10640912-chr2:10660415..10663385,2	MCF-7	breast:
23	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
24	chr2:10586888..10589074-chr2:10691041..10693850,2	K562	blood:
25	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:
26	chr2:10650088..10652035-chr2:10662005..10663540,2	MCF-7	breast:
27	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:
28	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
29	chr2:10660141..10662446-chr2:10692139..10693932,2	MCF-7	breast:
30	chr2:10697686..10698232-chr2:10799865..10800609,2	MCF-7	breast:
31	chr2:10579413..10581262-chr2:10676249..10678549,2	K562	blood:
32	chr2:10586849..10588529-chr2:10658757..10660570,2	K562	blood:
33	chr2:10651055..10653921-chr2:10663036..10664618,2	K562	blood:
34	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
35	chr2:10692833..10694594-chr2:10798213..10800858,2	MCF-7	breast:
36	chr2:10660893..10663493-chr2:10697519..10700150,2	K562	blood:
37	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
38	chr2:10660141..10662446-chr2:10692139..10693932,2	MCF-7	breast:
39	chr2:10690817..10693702-chr2:10693915..10697831,3	K562	blood:
40	chr2:10587440..10589528-chr2:10671667..10675036,3	K562	blood:
41	chr2:10586794..10589703-chr2:10696395..10698624,4	K562	blood:
42	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:
43	chr2:10636415..10638376-chr2:10688711..10690452,2	K562	blood:

No data

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

Extended variants
information (count: 1988 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1988 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17436529	chr2:10655141-10655142	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571302648	chr2:10655204-10655205	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537193858	chr2:10655205-10655206	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186955605	chr2:10655254-10655255	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567531367	chr2:10655300-10655301	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190772529	chr2:10655323-10655324	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553070333	chr2:10655370-10655371	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182626996	chr2:10655425-10655426	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537188189	chr2:10655463-10655464	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572640000	chr2:10655468-10655469	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538748173	chr2:10655478-10655479	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs367770491	chr2:10655491-10655492	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557475080	chr2:10655499-10655500	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575344564	chr2:10655505-10655506	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188813189	chr2:10655518-10655519	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs370039457	chr2:10655615-10655616	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561169820	chr2:10655620-10655621	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6718245	chr2:10655731-10655732	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372145697	chr2:10655738-10655739	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6731313	chr2:10655739-10655740	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112296853	chr2:10655767-10655768	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193220080	chr2:10655817-10655818	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551095947	chr2:10655893-10655894	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563329466	chr2:10655963-10655964	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113149595	chr2:10655991-10655992	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184432346	chr2:10656045-10656046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145375885	chr2:10656050-10656051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537922437	chr2:10656094-10656095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201575227	chr2:10656098-10656099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116641712	chr2:10656227-10656228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10185605	chr2:10656284-10656285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571548205	chr2:10656317-10656318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35996189	chr2:10656348-10656349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs79074261	chr2:10656349-10656350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542849199	chr2:10656375-10656376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536377051	chr2:10656442-10656443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554729727	chr2:10656523-10656524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187313219	chr2:10656559-10656560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540570127	chr2:10656569-10656570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112843239	chr2:10656601-10656602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577475269	chr2:10656606-10656607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149175271	chr2:10656612-10656613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563292713	chr2:10656635-10656636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143293665	chr2:10656636-10656637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577672891	chr2:10656663-10656664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191842491	chr2:10656676-10656677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549132026	chr2:10656677-10656678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148338157	chr2:10656678-10656679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556533522	chr2:10656683-10656684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140674376	chr2:10656715-10656716	Weak transcription	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:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10645600-10658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10652600-10655400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:10653400-10656000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:10653400-10656000	Enhancers	HMEC	breast
5	chr2:10654000-10655600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:10654000-10655800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:10654000-10655800	Enhancers	NHEK	skin
8	chr2:10654200-10655600	Enhancers	Osteobl	bone
9	chr2:10654400-10655400	Flanking Active TSS	Hela-S3	cervix
10	chr2:10655000-10655600	ZNF genes & repeats	A549	lung
11	chr2:10655400-10655600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr2:10655400-10655600	Enhancers	Hela-S3	cervix
13	chr2:10655600-10656000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:10657200-10658200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:10657600-10658000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:10657800-10658200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:10657800-10658200	Enhancers	Fetal Muscle Trunk	muscle
18	chr2:10657800-10658200	ZNF genes & repeats	Fetal Muscle Leg	muscle
19	chr2:10658000-10658600	ZNF genes & repeats	Spleen	Spleen
20	chr2:10658200-10658400	Enhancers	Fetal Muscle Leg	muscle
21	chr2:10658200-10658600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:10658200-10658600	Active TSS	Fetal Kidney	kidney
23	chr2:10658200-10658600	Enhancers	Pancreas	Pancrea
24	chr2:10658200-10658800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:10658200-10658800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr2:10658200-10658800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:10658200-10658800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:10658400-10658600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:10658400-10658800	Enhancers	Gastric	stomach
30	chr2:10658400-10659200	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:10658600-10658800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:10658600-10662400	Weak transcription	Spleen	Spleen
33	chr2:10658600-10662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:10658800-10660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:10658800-10661200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:10658800-10661400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:10659200-10659600	Enhancers	Fetal Muscle Leg	muscle
38	chr2:10659600-10661400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:10660200-10663200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:10660600-10660800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:10660600-10661000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:10660600-10662400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:10660600-10662400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:10660800-10661400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr2:10660800-10661400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:10661400-10661800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:10661400-10661800	Enhancers	Fetal Muscle Leg	muscle
48	chr2:10661400-10662000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:10661400-10662400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:10661400-10662400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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