Variant report

Variant	nsv555711
Chromosome Location	chr11:86960516-87001892
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	chr11:87001268-87001774	K562	blood:	n/a	chr11:87001403-87001419
2	ARID3A	chr11:87001358-87001863	HepG2	liver:	n/a	chr11:87001403-87001419
3	ATF1	chr11:86977830-86978145	K562	blood:	n/a	n/a
4	ATF1	chr11:87001481-87001810	K562	blood:	n/a	n/a
5	ATF1	chr11:86992567-86992847	K562	blood:	n/a	n/a
6	ATF3	chr11:86977766-86978150	K562	blood:	n/a	n/a
7	CEBPB	chr11:86973934-86974184	K562	blood:	n/a	n/a
8	CEBPB	chr11:86992557-86993003	MCF-7	breast:	n/a	n/a
9	CEBPB	chr11:86977783-86978174	K562	blood:	n/a	n/a
10	CEBPB	chr11:86992442-86993035	A549	lung:	n/a	n/a
11	CEBPB	chr11:87001405-87001933	Hela-S3	cervix:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
12	CEBPB	chr11:86977749-86978195	K562	blood:	n/a	n/a
13	CEBPB	chr11:86974570-86974776	H1-hESC	embryonic stem cell:	n/a	chr11:86974644-86974655
14	CEBPB	chr11:86974581-86974794	Hela-S3	cervix:	n/a	chr11:86974644-86974655
15	CEBPB	chr11:86992611-86992934	A549	lung:	n/a	n/a
16	CEBPB	chr11:86977736-86978248	HCT-116	colon:	n/a	n/a
17	CEBPB	chr11:87001530-87001960	K562	blood:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
18	CEBPB	chr11:86977799-86978091	K562	blood:	n/a	n/a
19	CEBPB	chr11:87001595-87001911	A549	lung:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
20	CEBPB	chr11:86974061-86974261	HepG2	liver:	n/a	n/a
21	CEBPB	chr11:86974550-86974809	A549	lung:	n/a	chr11:86974644-86974655
22	CEBPB	chr11:86974464-86974806	IMR90	lung:	n/a	chr11:86974644-86974655
23	CEBPB	chr11:87001596-87001812	H1-hESC	embryonic stem cell:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
24	CEBPB	chr11:86974537-86974813	HepG2	liver:	n/a	chr11:86974644-86974655
25	CEBPB	chr11:86993291-86993456	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr11:86994770-86994961	K562	blood:	n/a	n/a
27	CEBPB	chr11:86993269-86993392	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr11:86977825-86978102	HepG2	liver:	n/a	n/a
29	CEBPB	chr11:86991276-86991459	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr11:86974494-86974836	K562	blood:	n/a	chr11:86974644-86974655
31	CEBPB	chr11:86970973-86971267	K562	blood:	n/a	chr11:86971129-86971142 chr11:86971129-86971140 chr11:86971129-86971142
32	CEBPB	chr11:86977827-86978105	MCF-7	breast:	n/a	n/a
33	CEBPB	chr11:86992542-86992851	K562	blood:	n/a	n/a
34	CEBPB	chr11:86992567-86992933	K562	blood:	n/a	n/a
35	CEBPB	chr11:86977861-86978136	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr11:86992654-86992869	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr11:87001609-87001929	HepG2	liver:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
38	CEBPB	chr11:86992559-86992923	IMR90	lung:	n/a	n/a
39	CEBPB	chr11:86992544-86992955	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr11:86992591-86992884	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr11:87001380-87001530	GM12870	blood:	n/a	n/a
42	CTCF	chr11:87001440-87001590	AoAF	blood vessel:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
43	CTCF	chr11:87001395-87001676	A549	lung:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
44	CTCF	chr11:87001419-87001616	HepG2	liver:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
45	CTCF	chr11:87001520-87001670	GM12865	blood:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
46	CTCF	chr11:87001329-87001623	K562	blood:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
47	CTCF	chr11:87001460-87001610	GM12873	blood:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
48	CTCF	chr11:86992640-86992790	AG09319	gingival:	n/a	n/a
49	CTCF	chr11:86992646-86992793	ProgFib	skin:	n/a	n/a
50	CTCF	chr11:86992700-86992850	HCFaa	heart:	n/a	n/a

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

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

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

Extended variants
information (count: 1810 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1810 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550503	chr11:86960516-86960517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200672941	chr11:86960520-86960521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560338255	chr11:86960581-86960582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75040387	chr11:86960608-86960609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372380374	chr11:86960624-86960625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191269450	chr11:86960686-86960687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548681	chr11:86960691-86960692	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538129993	chr11:86960692-86960693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181059446	chr11:86960718-86960719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556037776	chr11:86960754-86960755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559863401	chr11:86960755-86960756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117205671	chr11:86960764-86960765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538262620	chr11:86960804-86960805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556621899	chr11:86960845-86960846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145850522	chr11:86960870-86960871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185267950	chr11:86960922-86960923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575357410	chr11:86961001-86961002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544509621	chr11:86961007-86961008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564185830	chr11:86961008-86961009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577873392	chr11:86961013-86961014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs641375	chr11:86961032-86961033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs641389	chr11:86961036-86961037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191161697	chr11:86961059-86961060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs641424	chr11:86961071-86961072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140725267	chr11:86961086-86961087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562542609	chr11:86961110-86961111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11235042	chr11:86961128-86961129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370443371	chr11:86961204-86961205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551362639	chr11:86961219-86961220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146554871	chr11:86961268-86961269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528002400	chr11:86961269-86961270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547659471	chr11:86961280-86961281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs522104	chr11:86961301-86961302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535541511	chr11:86961311-86961312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1791446	chr11:86961328-86961329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568983580	chr11:86961337-86961338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371269450	chr11:86961358-86961359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1791445	chr11:86961385-86961386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577827551	chr11:86961395-86961396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564580017	chr11:86961466-86961467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540557166	chr11:86961477-86961478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532010340	chr11:86961512-86961513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369887863	chr11:86961548-86961549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs643937	chr11:86961580-86961581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553022595	chr11:86961615-86961616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542706798	chr11:86961634-86961635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141295239	chr11:86961639-86961640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs518560	chr11:86961652-86961653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs518557	chr11:86961657-86961658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34543684	chr11:86961667-86961668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86960400-86960600	Enhancers	Rectal Smooth Muscle	rectum
2	chr11:86960600-86960800	Enhancers	Adipose Nuclei	Adipose
3	chr11:86960600-86962000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:86961400-86967800	Weak transcription	NHDF-Ad	bronchial
5	chr11:86962000-86962600	Enhancers	Rectal Smooth Muscle	rectum
6	chr11:86962000-86963000	Enhancers	Colon Smooth Muscle	Colon
7	chr11:86962200-86962400	Enhancers	Primary T cells from cord blood	blood
8	chr11:86962200-86962400	Enhancers	Aorta	Aorta
9	chr11:86962200-86962600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr11:86962400-86972000	Weak transcription	Primary T cells from cord blood	blood
11	chr11:86962600-86963000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:86962600-86963600	Weak transcription	Aorta	Aorta
13	chr11:86962800-86963000	Enhancers	HUVEC	blood vessel
14	chr11:86962800-86963200	Enhancers	Adipose Nuclei	Adipose
15	chr11:86962800-86977600	Weak transcription	K562	blood
16	chr11:86963000-86963200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:86963000-86963200	Enhancers	Rectal Smooth Muscle	rectum
18	chr11:86963000-86963600	Weak transcription	HUVEC	blood vessel
19	chr11:86963000-86976200	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:86963200-86963400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:86963200-86965800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:86963200-86969400	Weak transcription	Adipose Nuclei	Adipose
23	chr11:86963400-86963800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:86963400-86963800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:86963600-86964400	Enhancers	HUVEC	blood vessel
26	chr11:86963800-86964400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:86963800-86964600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:86964000-86964200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:86964000-86964400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:86964400-86966200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:86964400-86969400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:86964400-86969400	Weak transcription	HUVEC	blood vessel
33	chr11:86964400-86970800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:86964600-86970800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:86965800-86966600	Enhancers	Rectal Smooth Muscle	rectum
36	chr11:86965800-86966600	Enhancers	Right Atrium	heart
37	chr11:86966200-86966600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:86966200-86966600	Enhancers	Pancreas	Pancrea
39	chr11:86966200-86966800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:86966200-86966800	Enhancers	Thymus	Thymus
41	chr11:86966200-86967000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:86966400-86966800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:86966400-86966800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:86966400-86966800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:86966600-86969400	Weak transcription	Right Atrium	heart
46	chr11:86966600-86970400	Weak transcription	Pancreas	Pancrea
47	chr11:86966800-86968400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:86966800-86968800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:86966800-86970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:86967000-86968000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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