Variant report

Variant	nsv832287
Chromosome Location	chr11:121575379-121722735
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:75012214..75013088-chr11:121592371..121593332,2	MCF-7	breast:
2	chr11:121632571..121635609-chr11:121638427..121640448,3	K562	blood:
3	chr11:121632571..121635461-chr11:121638427..121640406,2	K562	blood:
4	chr11:121632571..121635609-chr11:121638427..121640448,3	K562	blood:
5	chr11:121624323..121626463-chr11:121639870..121641598,2	K562	blood:
6	chr11:121632571..121635461-chr11:121638427..121640406,2	K562	blood:
7	chr11:121624323..121626463-chr11:121639870..121641598,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227540	chromatin interactions
ENSG00000182180	chromatin interactions

Extended variants
information (count: 4059 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:4059 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529360457	chr11:121575413-121575414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547822340	chr11:121575440-121575441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141570965	chr11:121575455-121575456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371898866	chr11:121575456-121575457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2078363	chr11:121575457-121575458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115348106	chr11:121575458-121575459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369912852	chr11:121575461-121575462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570592246	chr11:121575462-121575463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112772448	chr11:121575463-121575464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556035512	chr11:121575481-121575482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73601397	chr11:121575507-121575508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535142508	chr11:121575574-121575575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372088210	chr11:121575615-121575616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117110254	chr11:121575617-121575618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190150163	chr11:121575641-121575642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12576097	chr11:121575670-121575671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375191250	chr11:121575699-121575700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181851144	chr11:121575766-121575767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186542969	chr11:121575777-121575778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543997992	chr11:121575799-121575800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562101974	chr11:121575871-121575872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146175675	chr11:121575918-121575919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139247213	chr11:121575921-121575922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559815251	chr11:121575965-121575966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs508851	chr11:121576022-121576023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78931217	chr11:121576067-121576068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572163837	chr11:121576138-121576139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144035885	chr11:121576141-121576142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564074416	chr11:121576165-121576166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375976715	chr11:121576211-121576212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531462449	chr11:121576256-121576257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531293671	chr11:121576286-121576287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549961174	chr11:121576309-121576310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373139012	chr11:121576395-121576396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535199867	chr11:121576400-121576401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540778069	chr11:121576422-121576423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565376635	chr11:121576445-121576446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539416039	chr11:121576459-121576460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192363366	chr11:121576463-121576464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114755094	chr11:121576504-121576505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150524982	chr11:121576505-121576506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183287038	chr11:121576513-121576514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574264449	chr11:121576548-121576549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541575482	chr11:121576549-121576550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185423144	chr11:121576627-121576628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533415489	chr11:121576687-121576688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs481880	chr11:121576691-121576692	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529555900	chr11:121576725-121576726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189786517	chr11:121576734-121576735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182824741	chr11:121576743-121576744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1209 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121568200-121576600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:121573600-121575600	Enhancers	Fetal Stomach	stomach
3	chr11:121573800-121582600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:121574800-121576600	Weak transcription	Fetal Kidney	kidney
5	chr11:121575200-121575400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:121575600-121576600	Weak transcription	Fetal Stomach	stomach
7	chr11:121576600-121576800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:121576600-121576800	Enhancers	Fetal Kidney	kidney
9	chr11:121576600-121576800	Enhancers	Fetal Stomach	stomach
10	chr11:121578000-121578200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:121578200-121580200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:121579400-121580000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr11:121579400-121580200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:121579400-121580200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr11:121579600-121580000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr11:121579600-121580200	Enhancers	Psoas Muscle	Psoas
17	chr11:121579800-121580200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:121579800-121580200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:121579800-121580600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:121580200-121582200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:121580200-121582600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:121580600-121582600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:121582200-121583200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:121582600-121583200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:121582600-121583400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:121582600-121583400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:121582800-121583200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:121582800-121583200	Enhancers	HepG2	liver
29	chr11:121584600-121584800	Enhancers	Aorta	Aorta
30	chr11:121584800-121586200	Weak transcription	Aorta	Aorta
31	chr11:121585000-121588000	Enhancers	HSMM	muscle
32	chr11:121585200-121585400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:121585400-121586200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:121585800-121587400	Enhancers	Fetal Lung	lung
35	chr11:121586000-121587200	Enhancers	Fetal Muscle Leg	muscle
36	chr11:121586000-121587400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:121586000-121588200	Enhancers	HSMMtube	muscle
38	chr11:121586200-121586400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:121586200-121586400	Enhancers	Aorta	Aorta
40	chr11:121586400-121587000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:121586600-121587000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr11:121586800-121587200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:121586800-121587200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr11:121587000-121587200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:121587200-121592800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:121587400-121592800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:121588200-121588400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:121589000-121590000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:121590000-121590400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:121590400-121591000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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