Variant report

Variant	nsv898069
Chromosome Location	chr11:86932603-86984439
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	chr11:86944770-86944904	HepG2	liver:	n/a	n/a
2	ATF1	chr11:86977830-86978145	K562	blood:	n/a	n/a
3	ATF3	chr11:86977766-86978150	K562	blood:	n/a	n/a
4	BACH1	chr11:86950832-86950861	K562	blood:	n/a	n/a
5	CBX3	chr11:86943417-86943753	K562	blood:	n/a	n/a
6	CEBPB	chr11:86974537-86974813	HepG2	liver:	n/a	chr11:86974644-86974655
7	CEBPB	chr11:86977799-86978091	K562	blood:	n/a	n/a
8	CEBPB	chr11:86943439-86943477	A549	lung:	n/a	n/a
9	CEBPB	chr11:86974464-86974806	IMR90	lung:	n/a	chr11:86974644-86974655
10	CEBPB	chr11:86977827-86978105	MCF-7	breast:	n/a	n/a
11	CEBPB	chr11:86977783-86978174	K562	blood:	n/a	n/a
12	CEBPB	chr11:86977825-86978102	HepG2	liver:	n/a	n/a
13	CEBPB	chr11:86973934-86974184	K562	blood:	n/a	n/a
14	CEBPB	chr11:86977749-86978195	K562	blood:	n/a	n/a
15	CEBPB	chr11:86947578-86947620	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr11:86974061-86974261	HepG2	liver:	n/a	n/a
17	CEBPB	chr11:86977861-86978136	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr11:86943362-86943506	K562	blood:	n/a	n/a
19	CEBPB	chr11:86977736-86978248	HCT-116	colon:	n/a	n/a
20	CEBPB	chr11:86970973-86971267	K562	blood:	n/a	chr11:86971129-86971142 chr11:86971129-86971140 chr11:86971129-86971142
21	CEBPB	chr11:86974570-86974776	H1-hESC	embryonic stem cell:	n/a	chr11:86974644-86974655
22	CEBPB	chr11:86974581-86974794	Hela-S3	cervix:	n/a	chr11:86974644-86974655
23	CEBPB	chr11:86974550-86974809	A549	lung:	n/a	chr11:86974644-86974655
24	CEBPB	chr11:86974494-86974836	K562	blood:	n/a	chr11:86974644-86974655
25	CTCF	chr11:86939120-86939270	HPF	lung:	n/a	chr11:86939139-86939157
26	CTCF	chr11:86978978-86979107	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chr11:86939099-86939187	K562	blood:	n/a	chr11:86939139-86939157
28	CTCF	chr11:86938880-86939030	HMF	breast:	n/a	n/a
29	CTCF	chr11:86939113-86939249	Hela-S3	cervix:	n/a	chr11:86939139-86939157
30	CTCF	chr11:86939060-86939210	HMEC	breast:	n/a	chr11:86939139-86939157
31	CTCF	chr11:86939120-86939270	HCPEpiC	choroid plexus:	n/a	chr11:86939139-86939157
32	CTCF	chr11:86939072-86939279	HUVEC	blood vessel:	n/a	chr11:86939139-86939157
33	CTCF	chr11:86939040-86939190	HMF	breast:	n/a	chr11:86939139-86939157
34	CTCF	chr11:86939140-86939290	HCT-116	colon:	n/a	n/a
35	CTCF	chr11:86939120-86939270	HMF	breast:	n/a	chr11:86939139-86939157
36	CTCF	chr11:86939300-86939450	HCM	heart:	n/a	n/a
37	CTCF	chr11:86939100-86939250	HCFaa	heart:	n/a	chr11:86939139-86939157
38	CTCF	chr11:86939120-86939270	HRPEpiC	eye:	n/a	chr11:86939139-86939157
39	CTCF	chr11:86939060-86939210	HCM	heart:	n/a	chr11:86939139-86939157
40	CTCF	chr11:86939060-86939210	HRPEpiC	eye:	n/a	chr11:86939139-86939157
41	CTCF	chr11:86939080-86939230	HEK293	kidney:	n/a	chr11:86939139-86939157
42	CTCF	chr11:86939020-86939170	HEEpiC	esophagus:	n/a	chr11:86939139-86939157
43	CTCF	chr11:86939080-86939230	HPAF	blood vessel:	n/a	chr11:86939139-86939157
44	CUX1	chr11:86977904-86978143	K562	blood:	n/a	n/a
45	CUX1	chr11:86982466-86982468	K562	blood:	n/a	n/a
46	E2F4	chr11:86962354-86962953	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr11:86959065-86959229	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr11:86977846-86978086	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr11:86947459-86947659	MCF10A-Er-Src	breast:	n/a	chr11:86947631-86947640
50	EGR1	chr11:86965711-86965884	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:86977540..86979356-chr11:86980303..86982155,2	MCF-7	breast:
2	chr11:86972962..86974479-chr11:86976089..86977632,2	MCF-7	breast:
3	chr11:86936889..86939702-chr11:86940206..86942335,2	K562	blood:
4	chr11:86977540..86979356-chr11:86980303..86982155,2	MCF-7	breast:
5	chr11:86972962..86974479-chr11:86976089..86977632,2	MCF-7	breast:
6	chr11:86936889..86939702-chr11:86940206..86942335,2	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

Extended variants
information (count: 1878 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1878 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs644471	chr11:86932603-86932604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546699363	chr11:86932732-86932733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566311719	chr11:86932758-86932759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141672761	chr11:86932793-86932794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562600191	chr11:86932833-86932834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531331343	chr11:86932847-86932848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551438839	chr11:86932909-86932910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571276300	chr11:86932925-86932926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536438459	chr11:86932948-86932949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548912183	chr11:86932962-86932963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185635659	chr11:86932968-86932969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567311221	chr11:86932969-86932970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536479359	chr11:86932971-86932972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549983114	chr11:86932994-86932995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11826471	chr11:86933006-86933007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569861000	chr11:86933014-86933015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554167837	chr11:86933021-86933022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs520718	chr11:86933035-86933036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs510286	chr11:86933039-86933040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375203933	chr11:86933053-86933054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11821717	chr11:86933068-86933069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369757742	chr11:86933078-86933079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11235016	chr11:86933092-86933093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555277243	chr11:86933148-86933149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558487324	chr11:86933156-86933157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1252055	chr11:86933203-86933204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562563015	chr11:86933210-86933211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386374401	chr11:86933224-86933225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386374402	chr11:86933244-86933245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377187928	chr11:86933255-86933256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71470727	chr11:86933266-86933267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12295696	chr11:86933273-86933274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190497407	chr11:86933277-86933278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545130762	chr11:86933293-86933294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11235017	chr11:86933304-86933305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185928467	chr11:86933320-86933321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527294218	chr11:86933338-86933339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547357682	chr11:86933350-86933351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574614188	chr11:86933364-86933365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561261981	chr11:86933374-86933375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200587125	chr11:86933382-86933383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529844341	chr11:86933393-86933394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35707386	chr11:86933409-86933410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs377035308	chr11:86933555-86933556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3018295	chr11:86933556-86933557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114561714	chr11:86933571-86933572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552269870	chr11:86933574-86933575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184347075	chr11:86933619-86933620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535048079	chr11:86933626-86933627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554961885	chr11:86933638-86933639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86915400-86942000	Weak transcription	HepG2	liver
2	chr11:86924800-86934800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:86926600-86935200	Weak transcription	Fetal Stomach	stomach
4	chr11:86926800-86934600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:86927000-86933800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:86929600-86942000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:86930800-86934000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:86931200-86934600	Weak transcription	Osteobl	bone
9	chr11:86931200-86935600	Weak transcription	Fetal Lung	lung
10	chr11:86931600-86935000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:86931800-86935000	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:86932600-86935000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:86933000-86942800	Weak transcription	Primary B cells from cord blood	blood
14	chr11:86933800-86934200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:86934000-86934200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:86934000-86943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:86934600-86935400	Enhancers	Osteobl	bone
18	chr11:86934600-86935800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:86934800-86935800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:86935000-86935400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:86935000-86935400	Enhancers	Colon Smooth Muscle	Colon
22	chr11:86935000-86935600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:86935000-86935600	Enhancers	K562	blood
24	chr11:86935000-86935600	Enhancers	NHLF	lung
25	chr11:86935000-86935800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:86935000-86935800	Enhancers	Adipose Nuclei	Adipose
27	chr11:86935000-86935800	Enhancers	NHDF-Ad	bronchial
28	chr11:86935000-86936600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:86935200-86935400	Enhancers	Fetal Stomach	stomach
30	chr11:86935200-86935400	Enhancers	Ovary	ovary
31	chr11:86935200-86935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:86935400-86939200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:86935600-86936400	Enhancers	Fetal Lung	lung
34	chr11:86935800-86937000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:86935800-86943000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:86936600-86936800	Enhancers	Small Intestine	intestine
37	chr11:86936600-86939000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:86936800-86949000	Weak transcription	Small Intestine	intestine
39	chr11:86937000-86940600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:86937800-86938000	Enhancers	Brain Substantia Nigra	brain
41	chr11:86937800-86938200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:86938600-86938800	Enhancers	Brain Substantia Nigra	brain
43	chr11:86938800-86940400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr11:86939000-86940600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:86939200-86939400	Enhancers	Colon Smooth Muscle	Colon
46	chr11:86940400-86940600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr11:86940600-86940800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr11:86942000-86943800	ZNF genes & repeats	HepG2	liver
49	chr11:86942000-86944000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:86943000-86944000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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