Variant report

Variant	nsv555709
Chromosome Location	chr11:86928253-87001892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:87001358-87001863	HepG2	liver:	n/a	chr11:87001403-87001419
2	ARID3A	chr11:87001268-87001774	K562	blood:	n/a	chr11:87001403-87001419
3	ARID3A	chr11:86944770-86944904	HepG2	liver:	n/a	n/a
4	ATF1	chr11:86977830-86978145	K562	blood:	n/a	n/a
5	ATF1	chr11:87001481-87001810	K562	blood:	n/a	n/a
6	ATF1	chr11:86992567-86992847	K562	blood:	n/a	n/a
7	ATF3	chr11:86977766-86978150	K562	blood:	n/a	n/a
8	BACH1	chr11:86950832-86950861	K562	blood:	n/a	n/a
9	CBX3	chr11:86943417-86943753	K562	blood:	n/a	n/a
10	CEBPB	chr11:86992567-86992933	K562	blood:	n/a	n/a
11	CEBPB	chr11:86992654-86992869	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr11:86974570-86974776	H1-hESC	embryonic stem cell:	n/a	chr11:86974644-86974655
13	CEBPB	chr11:86993291-86993456	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr11:86992557-86993003	MCF-7	breast:	n/a	n/a
15	CEBPB	chr11:86977861-86978136	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr11:86974061-86974261	HepG2	liver:	n/a	n/a
17	CEBPB	chr11:87001595-87001911	A549	lung:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
18	CEBPB	chr11:86994770-86994961	K562	blood:	n/a	n/a
19	CEBPB	chr11:86977825-86978102	HepG2	liver:	n/a	n/a
20	CEBPB	chr11:86970973-86971267	K562	blood:	n/a	chr11:86971129-86971142 chr11:86971129-86971140 chr11:86971129-86971142
21	CEBPB	chr11:86973934-86974184	K562	blood:	n/a	n/a
22	CEBPB	chr11:86992611-86992934	A549	lung:	n/a	n/a
23	CEBPB	chr11:86977827-86978105	MCF-7	breast:	n/a	n/a
24	CEBPB	chr11:86974537-86974813	HepG2	liver:	n/a	chr11:86974644-86974655
25	CEBPB	chr11:86992559-86992923	IMR90	lung:	n/a	n/a
26	CEBPB	chr11:86947578-86947620	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr11:86992442-86993035	A549	lung:	n/a	n/a
28	CEBPB	chr11:86974464-86974806	IMR90	lung:	n/a	chr11:86974644-86974655
29	CEBPB	chr11:87001596-87001812	H1-hESC	embryonic stem cell:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
30	CEBPB	chr11:86974550-86974809	A549	lung:	n/a	chr11:86974644-86974655
31	CEBPB	chr11:86977799-86978091	K562	blood:	n/a	n/a
32	CEBPB	chr11:86974494-86974836	K562	blood:	n/a	chr11:86974644-86974655
33	CEBPB	chr11:86943439-86943477	A549	lung:	n/a	n/a
34	CEBPB	chr11:86974581-86974794	Hela-S3	cervix:	n/a	chr11:86974644-86974655
35	CEBPB	chr11:86977749-86978195	K562	blood:	n/a	n/a
36	CEBPB	chr11:86992544-86992955	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr11:87001530-87001960	K562	blood:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
38	CEBPB	chr11:87001405-87001933	Hela-S3	cervix:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
39	CEBPB	chr11:86977736-86978248	HCT-116	colon:	n/a	n/a
40	CEBPB	chr11:86993269-86993392	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr11:86977783-86978174	K562	blood:	n/a	n/a
42	CEBPB	chr11:86991276-86991459	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr11:87001609-87001929	HepG2	liver:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
44	CEBPB	chr11:86992591-86992884	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr11:86992542-86992851	K562	blood:	n/a	n/a
46	CEBPB	chr11:86943362-86943506	K562	blood:	n/a	n/a
47	CTCF	chr11:86992620-86992770	AG10803	skin:	n/a	n/a
48	CTCF	chr11:87001480-87001630	AG09319	gingival:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
49	CTCF	chr11:87001395-87001676	A549	lung:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
50	CTCF	chr11:87001460-87001610	AG04449	skin:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547

No.	Distal block	Cell Line	Cell type
1	chr11:86972962..86974479-chr11:86976089..86977632,2	MCF-7	breast:
2	chr11:86650138..86651130-chr11:87001040..87002269,8	K562	blood:
3	chr11:86921997..86925633-chr11:86926619..86929927,5	K562	blood:
4	chr11:87001464..87002001-chr7:75943410..75944161,2	K562	blood:
5	chr11:86924206..86926245-chr11:86930378..86932580,2	K562	blood:
6	chr11:86977540..86979356-chr11:86980303..86982155,2	MCF-7	breast:
7	chr11:86936889..86939702-chr11:86940206..86942335,2	K562	blood:
8	chr11:86580752..86581690-chr11:87001116..87001998,4	K562	blood:
9	chr11:86972962..86974479-chr11:86976089..86977632,2	MCF-7	breast:
10	chr11:86991946..86992672-chr5:176296643..176297235,2	MCF-7	breast:
11	chr11:86806619..86807569-chr11:86992272..86993052,3	MCF-7	breast:
12	chr11:86710137..86711956-chr11:86990366..86992245,2	MCF-7	breast:
13	chr11:86996729..86999242-chr11:87005313..87006882,2	MCF-7	breast:
14	chr11:86921997..86924234-chr11:86927310..86928877,2	K562	blood:
15	chr11:86936889..86939702-chr11:86940206..86942335,2	K562	blood:
16	chr11:86664953..86668319-chr11:86999800..87002548,3	MCF-7	breast:
17	chr11:86664990..86667056-chr11:86996903..86999848,2	K562	blood:
18	chr11:86664855..86666701-chr11:87000839..87002926,2	MCF-7	breast:
19	chr11:86641346..86643236-chr11:86990430..86992858,2	K562	blood:
20	chr11:86977540..86979356-chr11:86980303..86982155,2	MCF-7	breast:
21	chr11:86166836..86167387-chr11:87001058..87001771,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FZD4-8	chr11:86969893-86970301	NONHSAT023515

Variant related genes	Relation type
ENSG00000213287	TF binding region
ENSG00000174804	chromatin interactions
ENSG00000246523	chromatin interactions

Extended variants
information (count: 2803 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2803 , 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	rs301588	chr11:86928253-86928254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557347971	chr11:86928294-86928295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs681642	chr11:86928297-86928298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540026337	chr11:86928310-86928311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72955823	chr11:86928388-86928389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573478699	chr11:86928451-86928452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541098498	chr11:86928510-86928511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181723832	chr11:86928538-86928539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186191686	chr11:86928545-86928546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189933199	chr11:86928549-86928550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548291608	chr11:86928555-86928556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563427426	chr11:86928556-86928557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs301587	chr11:86928564-86928565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569665508	chr11:86928570-86928571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182143873	chr11:86928577-86928578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369728703	chr11:86928603-86928604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187922192	chr11:86928645-86928646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568570328	chr11:86928653-86928654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72955824	chr11:86928659-86928660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558345118	chr11:86928671-86928672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550991451	chr11:86928673-86928674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570865241	chr11:86928676-86928677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373903544	chr11:86928680-86928681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144370867	chr11:86928684-86928685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553723860	chr11:86928687-86928688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368902111	chr11:86928693-86928694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571902079	chr11:86928700-86928701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539223669	chr11:86928710-86928711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536090335	chr11:86928720-86928721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536515164	chr11:86928741-86928742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560319082	chr11:86928768-86928769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554510288	chr11:86928774-86928775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192346378	chr11:86928780-86928781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183840036	chr11:86928782-86928783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543163732	chr11:86928790-86928791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556868916	chr11:86928794-86928795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201673519	chr11:86928812-86928813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143712597	chr11:86928826-86928827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576455442	chr11:86928835-86928836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545661860	chr11:86928864-86928865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116642794	chr11:86929016-86929017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372428518	chr11:86929041-86929042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386755860	chr11:86929087-86929088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146127034	chr11:86929160-86929161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527252159	chr11:86929171-86929172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542052072	chr11:86929174-86929175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562030334	chr11:86929181-86929182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs301586	chr11:86929219-86929220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200796680	chr11:86929253-86929254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550795854	chr11:86929297-86929298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86891800-86929400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:86906000-86931000	Weak transcription	Fetal Lung	lung
3	chr11:86915400-86942000	Weak transcription	HepG2	liver
4	chr11:86916000-86931000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:86924800-86934800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:86926600-86935200	Weak transcription	Fetal Stomach	stomach
7	chr11:86926800-86930200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:86926800-86934600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:86927000-86933800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:86929400-86929600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:86929600-86942000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:86929800-86930600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:86930200-86930800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:86930200-86930800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:86930200-86930800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:86930200-86931000	Enhancers	GM12878-XiMat	blood
17	chr11:86930200-86932600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:86930400-86931800	Enhancers	Colon Smooth Muscle	Colon
19	chr11:86930600-86930800	Enhancers	Rectal Smooth Muscle	rectum
20	chr11:86930600-86931200	Enhancers	Osteobl	bone
21	chr11:86930800-86934000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:86931000-86931600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:86931200-86934600	Weak transcription	Osteobl	bone
24	chr11:86931200-86935600	Weak transcription	Fetal Lung	lung
25	chr11:86931400-86931600	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:86931400-86931800	Enhancers	HSMMtube	muscle
27	chr11:86931600-86935000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:86931800-86935000	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:86932600-86935000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:86933000-86942800	Weak transcription	Primary B cells from cord blood	blood
31	chr11:86933800-86934200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:86934000-86934200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr11:86934000-86943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:86934600-86935400	Enhancers	Osteobl	bone
35	chr11:86934600-86935800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:86934800-86935800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:86935000-86935400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:86935000-86935400	Enhancers	Colon Smooth Muscle	Colon
39	chr11:86935000-86935600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:86935000-86935600	Enhancers	K562	blood
41	chr11:86935000-86935600	Enhancers	NHLF	lung
42	chr11:86935000-86935800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:86935000-86935800	Enhancers	Adipose Nuclei	Adipose
44	chr11:86935000-86935800	Enhancers	NHDF-Ad	bronchial
45	chr11:86935000-86936600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:86935200-86935400	Enhancers	Fetal Stomach	stomach
47	chr11:86935200-86935400	Enhancers	Ovary	ovary
48	chr11:86935200-86935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:86935400-86939200	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:86935600-86936400	Enhancers	Fetal Lung	lung

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