Variant report

Variant	nsv825989
Chromosome Location	chr11:71798818-71799495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr11:71799107-71799443	K562	blood:	n/a	n/a
2	GATA3	chr11:71799215-71799371	SH-SY5Y	brain:	n/a	n/a
3	HMGN3	chr11:71799043-71799441	K562	blood:	n/a	n/a
4	IRF1	chr11:71799097-71799326	K562	blood:	n/a	n/a
5	POLR2A	chr11:71796837-71799431	K562	blood:	n/a	n/a
6	POLR2A	chr11:71798957-71799481	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:71799134-71799179	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:71799183-71799513	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:71799005-71799039	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:71799304-71799469	K562	blood:	n/a	n/a
11	RCOR1	chr11:71799079-71799492	K562	blood:	n/a	n/a
12	TAL1	chr11:71799151-71799445	K562	blood:	n/a	n/a
13	TEAD4	chr11:71799079-71799503	K562	blood:	n/a	n/a
14	TEAD4	chr11:71799104-71799577	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71733947..71737964-chr11:71799047..71803336,5	MCF-7	breast:
2	chr11:71779732..71781998-chr11:71797035..71799576,2	K562	blood:
3	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
4	chr11:71792007..71794260-chr11:71797315..71799047,2	MCF-7	breast:
5	chr11:71795514..71800060-chr11:71810684..71814982,4	MCF-7	breast:
6	chr11:71789600..71791756-chr11:71798522..71801102,2	MCF-7	breast:
7	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
8	chr11:71735259..71738046-chr11:71798702..71801474,2	MCF-7	breast:

No data

Variant related genes	Relation type
LRTOMT	TF binding region
ENSG00000184154	chromatin interactions
ENSG00000206783	chromatin interactions
ENSG00000137497	chromatin interactions
ENSG00000149357	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75564847	chr11:71798820-71798821	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs562188614	chr11:71798885-71798886	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs573788938	chr11:71798919-71798920	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs560880276	chr11:71798944-71798945	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs17161942	chr11:71798979-71798980	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376291192	chr11:71799006-71799007	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs673478	chr11:71799104-71799105	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs564933164	chr11:71799111-71799112	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs533276752	chr11:71799123-71799124	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs551693443	chr11:71799132-71799133	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs563319373	chr11:71799238-71799239	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs117948560	chr11:71799277-71799278	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs190809722	chr11:71799333-71799334	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs193014675	chr11:71799373-71799374	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs534394852	chr11:71799410-71799411	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs547590178	chr11:71799478-71799479	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs547614835	chr11:71799485-71799486	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71792400-71799000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr11:71792400-71799000	Weak transcription	Left Ventricle	heart
3	chr11:71792400-71799200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:71792400-71799400	Weak transcription	Ovary	ovary
5	chr11:71792400-71802600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:71792400-71805200	Weak transcription	HSMMtube	muscle
7	chr11:71792400-71805800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:71792600-71799000	Weak transcription	Liver	Liver
9	chr11:71792600-71799200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:71792600-71799200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:71792600-71799200	Weak transcription	Osteobl	bone
12	chr11:71792600-71799400	Weak transcription	HSMM	muscle
13	chr11:71792600-71800800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:71792600-71802000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:71792600-71802400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:71792600-71804200	Weak transcription	Aorta	Aorta
17	chr11:71792600-71804800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:71792600-71805400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:71792600-71805400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:71792600-71805400	Weak transcription	Colonic Mucosa	Colon
21	chr11:71792600-71805600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:71792600-71805600	Weak transcription	Esophagus	oesophagus
23	chr11:71792600-71805600	Weak transcription	Pancreas	Pancrea
24	chr11:71792600-71808800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:71792600-71809000	Weak transcription	Psoas Muscle	Psoas
26	chr11:71792600-71812800	Weak transcription	Fetal Heart	heart
27	chr11:71792600-71813200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:71792800-71799000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:71792800-71799000	Weak transcription	Fetal Stomach	stomach
30	chr11:71792800-71799000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:71792800-71799000	Weak transcription	Thymus	Thymus
32	chr11:71792800-71799400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:71792800-71801000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:71792800-71801000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:71792800-71801400	Weak transcription	HepG2	liver
36	chr11:71792800-71801800	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:71792800-71801800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:71792800-71802000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:71792800-71802000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:71792800-71802200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:71792800-71804600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:71792800-71808200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:71792800-71808200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:71793000-71799400	Weak transcription	Spleen	Spleen
45	chr11:71793000-71808400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:71793200-71799000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:71793200-71799200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:71793200-71799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:71793200-71808400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:71793400-71799000	Weak transcription	Lung	lung

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