Variant report

Variant	nsv898061
Chromosome Location	chr11:86850483-86944982
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86936889..86939702-chr11:86940206..86942335,2	K562	blood:
2	chr11:86921997..86924234-chr11:86927310..86928877,2	K562	blood:
3	chr11:86867900..86869412-chr11:86871775..86874240,2	K562	blood:
4	chr11:86889371..86892096-chr11:86895507..86898091,3	K562	blood:
5	chr11:86936889..86939702-chr11:86940206..86942335,2	K562	blood:
6	chr11:86920351..86922677-chr11:86924131..86926585,2	K562	blood:
7	chr11:86895352..86897026-chr11:86899805..86901720,2	K562	blood:
8	chr11:86867900..86869412-chr11:86871775..86874240,2	K562	blood:
9	chr11:86899712..86901382-chr11:86903626..86906084,2	K562	blood:
10	chr11:86920351..86922677-chr11:86924131..86926585,2	K562	blood:
11	chr11:86924206..86926245-chr11:86930378..86932580,2	K562	blood:
12	chr11:86847845..86849686-chr11:86851887..86854201,2	MCF-7	breast:
13	chr11:86924206..86926245-chr11:86930378..86932580,2	K562	blood:
14	chr11:86895352..86897026-chr11:86899805..86901720,2	K562	blood:
15	chr11:86921997..86924234-chr11:86927310..86928877,2	K562	blood:
16	chr11:86900182..86903492-chr11:86905711..86910083,4	K562	blood:
17	chr11:86889371..86892096-chr11:86895507..86898091,3	K562	blood:
18	chr11:86900182..86903492-chr11:86905711..86910083,4	K562	blood:
19	chr11:86899712..86901382-chr11:86903626..86906084,2	K562	blood:
20	chr11:86921997..86925633-chr11:86926619..86929927,5	K562	blood:
21	chr11:86921997..86925633-chr11:86926619..86929927,5	K562	blood:

No data

Extended variants
information (count: 3778 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3778 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs483373	chr11:86850483-86850484	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187721127	chr11:86850514-86850515	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570379316	chr11:86850551-86850552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74384961	chr11:86850558-86850559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75669975	chr11:86850586-86850587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192651222	chr11:86850613-86850614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535623684	chr11:86850633-86850634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555573446	chr11:86850704-86850705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2247537	chr11:86850705-86850706	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544654626	chr11:86850725-86850726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2512350	chr11:86850736-86850737	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577958943	chr11:86850750-86850751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540263696	chr11:86850769-86850770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75315505	chr11:86850798-86850799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72951585	chr11:86850976-86850977	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542929644	chr11:86850992-86850993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149319046	chr11:86851063-86851064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189538012	chr11:86851086-86851087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533280638	chr11:86851104-86851105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57255672	chr11:86851121-86851122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550645978	chr11:86851130-86851131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192374178	chr11:86851148-86851149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184535894	chr11:86851149-86851150	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs671781	chr11:86851221-86851222	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546648084	chr11:86851222-86851223	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs11234990	chr11:86851259-86851260	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs672194	chr11:86851267-86851268	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549018989	chr11:86851270-86851271	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs376160529	chr11:86851271-86851272	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs59934764	chr11:86851292-86851293	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558214802	chr11:86851300-86851301	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs672269	chr11:86851316-86851317	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs534046670	chr11:86851319-86851320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553712620	chr11:86851328-86851329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs573706494	chr11:86851331-86851332	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs190222223	chr11:86851352-86851353	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs542866328	chr11:86851368-86851369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371937124	chr11:86851401-86851402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181430631	chr11:86851424-86851425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201667760	chr11:86851447-86851448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545308848	chr11:86851453-86851454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10898608	chr11:86851496-86851497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10898609	chr11:86851499-86851500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76417040	chr11:86851593-86851594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554030000	chr11:86851617-86851618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199714281	chr11:86851653-86851654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77577226	chr11:86851659-86851660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572233295	chr11:86851707-86851708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560151612	chr11:86851711-86851712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528902390	chr11:86851733-86851734	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86809000-86876000	Weak transcription	Left Ventricle	heart
2	chr11:86836200-86853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:86836800-86877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:86837200-86852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:86847200-86853200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:86847800-86851200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:86849600-86851800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:86849800-86850800	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr11:86849800-86850800	ZNF genes & repeats	HepG2	liver
10	chr11:86850000-86851600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:86850200-86850600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:86850200-86851000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr11:86850200-86851200	Weak transcription	Right Atrium	heart
14	chr11:86850200-86854600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:86850400-86850600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr11:86850400-86850800	ZNF genes & repeats	Fetal Lung	lung
17	chr11:86850400-86850800	ZNF genes & repeats	Dnd41	blood
18	chr11:86850600-86850800	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr11:86850600-86853800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:86850600-86861600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:86850800-86853000	Weak transcription	Primary T cells from cord blood	blood
22	chr11:86850800-86853200	Weak transcription	Dnd41	blood
23	chr11:86850800-86853200	Weak transcription	HepG2	liver
24	chr11:86850800-86860400	Weak transcription	Fetal Lung	lung
25	chr11:86850800-86861800	Weak transcription	Primary B cells from cord blood	blood
26	chr11:86851000-86854600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:86851200-86851400	ZNF genes & repeats	Right Atrium	heart
28	chr11:86851200-86872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:86851400-86853200	Weak transcription	Right Atrium	heart
30	chr11:86851800-86852200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:86852200-86859200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:86852600-86853400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:86852600-86855600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:86853000-86853200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr11:86853000-86853400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr11:86853000-86853400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:86853000-86853400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:86853000-86853400	Enhancers	Fetal Thymus	thymus
39	chr11:86853000-86853400	Enhancers	Thymus	Thymus
40	chr11:86853000-86853800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:86853000-86855000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr11:86853000-86856800	Enhancers	Primary T cells from cord blood	blood
43	chr11:86853200-86853400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:86853200-86853400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:86853200-86853400	Enhancers	Right Atrium	heart
46	chr11:86853200-86853600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:86853200-86853800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr11:86853200-86854000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:86853200-86855000	Enhancers	HepG2	liver
50	chr11:86853200-86855400	Weak transcription	H9 Cell Line	embryonic stem cell

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