Variant report

Variant	nsv933064
Chromosome Location	chr11:71155081-71155351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71154751-71155205	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr11:71154555-71155619	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:71154830-71155558	K562	blood:	n/a	n/a
4	POLR2A	chr11:71155069-71155402	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:71155332-71155464	K562	blood:	n/a	n/a
6	POLR2A	chr11:71151944-71156747	K562	blood:	n/a	n/a
7	POLR2A	chr11:71154973-71155299	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71155081-71155131	LNCaP	prostate:	n/a
2	chr11:71155081-71155131	HMEC	breast:	n/a
3	chr11:71155081-71155131	Jurkat	blood:	n/a
4	chr11:71155081-71155131	RPTEC	kidney:	n/a
5	chr11:71155081-71155131	SK-N-MC	brain:	n/a
6	chr11:71155081-71155131	HCT-116	colon:	n/a
7	chr11:71155081-71155131	HRCEpiC	kidney:	n/a
8	chr11:71155081-71155131	ovcar-3	ovarian:	n/a
9	chr11:71155081-71155131	GM12891	blood:	n/a
10	chr11:71155081-71155131	U87	brain:	n/a
11	chr11:71155081-71155131	NHDF-neo	bronchial:	n/a
12	chr11:71155081-71155131	PrEC	prostate:	n/a
13	chr11:71155081-71155131	AoSMC	blood vessel:	n/a
14	chr11:71155081-71155131	CMK	blood:	n/a
15	chr11:71155081-71155131	SK-N-SH	brain:	n/a
16	chr11:71155081-71155131	GM06990	blood:	n/a
17	chr11:71155081-71155131	HNPCEpiC	eye:	n/a
18	chr11:71155081-71155131	MCF-7	breast:	n/a
19	chr11:71155081-71155131	NHBE	bronchial:	n/a
20	chr11:71155081-71155131	HCPEpiC	choroid plexus:	n/a
21	chr11:71155081-71155131	PANC-1	pancreas:	n/a
22	chr11:71155081-71155131	AG04449	skin:	fetal
23	chr11:71155081-71155131	AG09309	skin:	n/a
24	chr11:71155081-71155131	SAEC	small airway:	n/a
25	chr11:71155081-71155131	HAEpiC	amniotic membrane:	n/a
26	chr11:71155081-71155131	HUVEC	blood vessel:	n/a
27	chr11:71155081-71155131	SK-N-SH_RA	brain:	n/a
28	chr11:71155081-71155131	GM12878	blood:	n/a
29	chr11:71155081-71155131	IMR90	lung:	fetal
30	chr11:71155081-71155131	PFSK-1	brain:	n/a
31	chr11:71155081-71155131	BE2_C	brain:	n/a
32	chr11:71155081-71155131	H1-hESC	embryonic stem cell:	embryo
33	chr11:71155081-71155131	HCF	heart:	n/a
34	chr11:71155081-71155131	NT2-D1	testis:	n/a
35	chr11:71155081-71155131	ECC-1	luminal epithelium:	n/a
36	chr11:71155081-71155131	SKMC	muscle:	n/a
37	chr11:71155081-71155131	Hela-S3	cervix:	n/a
38	chr11:71155081-71155131	HEK293	kidney:	embryo
39	chr11:71155081-71155131	MCF10A-Er-Src	breast:	n/a
40	chr11:71155081-71155131	ProgFib	skin:	n/a
41	chr11:71155081-71155131	BJ	skin:	n/a
42	chr11:71155081-71155131	K562	blood:	n/a
43	chr11:71155081-71155131	HCM	heart:	n/a
44	chr11:71155081-71155131	AG04450	lung:	fetal
45	chr11:71155081-71155131	GM19239	blood:	n/a
46	chr11:71155081-71155131	HL-60	blood:	n/a
47	chr11:71155081-71155131	T-47D	breast:	n/a
48	chr11:71155081-71155131	HRE	kidney:	n/a
49	chr11:71155081-71155131	Hepatocyte	liver:	n/a
50	chr11:71155081-71155131	HIPEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71154436..71156970-chr11:71198755..71201662,2	MCF-7	breast:
2	chr11:71138911..71140880-chr11:71154532..71157322,2	K562	blood:
3	chr11:71146059..71148297-chr11:71153188..71155860,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254682	TF binding region
DHCR7	TF binding region
ENSG00000254682	CpG island
DHCR7	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80338853	chr11:71155082-71155083	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
2	rs375997113	chr11:71155095-71155096	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
3	rs373352413	chr11:71155128-71155129	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
4	rs4316537	chr11:71155129-71155130	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs368473756	chr11:71155134-71155135	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs370748173	chr11:71155137-71155138	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs183441430	chr11:71155138-71155139	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs374874199	chr11:71155139-71155140	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs144512551	chr11:71155152-71155153	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs1790334	chr11:71155153-71155154	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs104886038	chr11:71155157-71155158	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs143999854	chr11:71155161-71155162	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs1044482	chr11:71155171-71155172	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs104886037	chr11:71155175-71155176	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs104886036	chr11:71155184-71155185	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs104886032	chr11:71155188-71155189	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs374941029	chr11:71155195-71155196	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs104886035	chr11:71155209-71155210	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs540098203	chr11:71155210-71155211	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs104886034	chr11:71155211-71155212	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs140721259	chr11:71155221-71155222	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs142897396	chr11:71155229-71155230	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs200984695	chr11:71155233-71155234	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs150928869	chr11:71155234-71155235	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs376263149	chr11:71155237-71155238	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs140748737	chr11:71155265-71155266	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs372886043	chr11:71155266-71155267	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs189549129	chr11:71155271-71155272	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs371964662	chr11:71155272-71155273	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs182246900	chr11:71155348-71155349	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	21785460	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71140600-71158200	Weak transcription	Fetal Brain Male	brain
2	chr11:71144000-71156200	Strong transcription	Fetal Brain Female	brain
3	chr11:71144200-71158200	Weak transcription	Small Intestine	intestine
4	chr11:71144400-71156200	Strong transcription	Primary T cells from cord blood	blood
5	chr11:71144600-71157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:71144800-71156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:71144800-71156800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:71144800-71156800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:71144800-71157800	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr11:71145000-71155400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:71145000-71156400	Strong transcription	Brain Germinal Matrix	brain
12	chr11:71145000-71156600	Strong transcription	Fetal Stomach	stomach
13	chr11:71145000-71157000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:71145000-71157000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:71145000-71157400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:71145000-71157800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:71145000-71158600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:71145200-71156200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:71145200-71157000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:71145200-71157000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:71145200-71157200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:71145200-71157400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:71145200-71157400	Strong transcription	HMEC	breast
24	chr11:71145200-71157800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr11:71145400-71157800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:71145400-71158000	Weak transcription	Stomach Mucosa	stomach
27	chr11:71145600-71157000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:71145600-71157000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:71145600-71158000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:71145800-71155400	Strong transcription	Left Ventricle	heart
31	chr11:71145800-71156200	Strong transcription	Lung	lung
32	chr11:71145800-71156400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:71145800-71156600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:71145800-71156600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:71145800-71156800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:71145800-71156800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:71145800-71157000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:71145800-71157200	Strong transcription	HSMMtube	muscle
39	chr11:71145800-71157400	Strong transcription	Fetal Intestine Large	intestine
40	chr11:71145800-71157800	Strong transcription	Fetal Intestine Small	intestine
41	chr11:71146000-71155800	Strong transcription	HepG2	liver
42	chr11:71146000-71156200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:71146000-71156800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:71146000-71156800	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:71146000-71157000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:71146000-71157000	Strong transcription	Dnd41	blood
47	chr11:71146000-71158000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:71146200-71156200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:71146200-71156200	Strong transcription	Right Ventricle	heart
50	chr11:71146200-71156600	Strong transcription	Colonic Mucosa	Colon

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