Variant report

Variant	esv3341170
Chromosome Location	chr11:74112479-74114877
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:3)
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	CEBPB	chr11:74114001-74114035	HepG2	liver:	n/a	n/a
2	CTCF	chr11:74113071-74113138	Fibrobl	skin:	n/a	n/a
3	CTCF	chr11:74114455-74114525	Spleen_OC	spleen:	n/a	n/a
4	JUN	chr11:74113288-74113394	K562	blood:	n/a	n/a
5	MXI1	chr11:74114465-74115210	SK-N-SH	brain:	n/a	n/a
6	MYC	chr11:74114041-74114072	MCF-7	breast:	n/a	n/a
7	MYC	chr11:74114027-74114082	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:74112851-74112860	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:74114080-74114120	A549	lung:	n/a	n/a
10	POLR2A	chr11:74114056-74114077	A549	lung:	n/a	n/a
11	POLR2A	chr11:74112861-74112954	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:74114526-74114558	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:74113960-74114130	MCF-7	breast:	n/a	n/a
14	ZNF274	chr11:74113220-74113857	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:74111193..74112861-chr11:74116086..74118546,2	K562	blood:
2	chr11:74107693..74110555-chr11:74110829..74112804,2	MCF-7	breast:
3	chr11:74113820..74116685-chr11:74117117..74119605,4	MCF-7	breast:

No data

Variant related genes	Relation type
PGM2L1	TF binding region
ENSG00000165434	chromatin interactions
ENSG00000264402	chromatin interactions
ENSG00000254631	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116704822	chr11:74112481-74112482	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs553956128	chr11:74112542-74112543	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs575108238	chr11:74112567-74112568	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs546277770	chr11:74112609-74112610	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs181121254	chr11:74112622-74112623	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs556642528	chr11:74112735-74112736	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs2509531	chr11:74112753-74112754	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150479606	chr11:74112859-74112860	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs560652395	chr11:74112882-74112883	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs12270932	chr11:74112899-74112900	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572519562	chr11:74112924-74112925	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs2509532	chr11:74112927-74112928	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186467678	chr11:74113028-74113029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374201283	chr11:74113054-74113055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143990458	chr11:74113110-74113111	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs35482615	chr11:74113153-74113154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145944794	chr11:74113181-74113182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200947959	chr11:74113182-74113183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12417530	chr11:74113183-74113184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572483627	chr11:74113191-74113192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12418456	chr11:74113193-74113194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147287709	chr11:74113199-74113200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12417532	chr11:74113201-74113202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186923933	chr11:74113209-74113210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12417535	chr11:74113221-74113222	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs12417253	chr11:74113222-74113223	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs533732786	chr11:74113229-74113230	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547611462	chr11:74113241-74113242	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs12417254	chr11:74113242-74113243	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs12417537	chr11:74113243-74113244	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs12278437	chr11:74113266-74113267	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12417265	chr11:74113279-74113280	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs12417552	chr11:74113285-74113286	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs12417266	chr11:74113286-74113287	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs539897268	chr11:74113304-74113305	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs12417553	chr11:74113325-74113326	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs12417554	chr11:74113363-74113364	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs12417271	chr11:74113366-74113367	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs149239764	chr11:74113371-74113372	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs12417564	chr11:74113384-74113385	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs12417276	chr11:74113385-74113386	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs35605186	chr11:74113387-74113388	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs556703607	chr11:74113389-74113390	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs570032006	chr11:74113390-74113391	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs535871975	chr11:74113400-74113401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs111219002	chr11:74113421-74113422	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs183464816	chr11:74113430-74113431	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs541301148	chr11:74113434-74113435	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs564664781	chr11:74113446-74113447	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs555762235	chr11:74113494-74113495	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	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
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
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74110400-74113400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:74110400-74114400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:74110600-74114400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:74110600-74114600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:74110800-74112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:74110800-74114400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:74110800-74114800	Weak transcription	K562	blood
8	chr11:74110800-74118400	Weak transcription	Pancreas	Pancrea
9	chr11:74112200-74114400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:74112400-74114800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:74112600-74114800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:74113600-74114800	Weak transcription	Fetal Thymus	thymus
13	chr11:74114400-74114600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:74114400-74115200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:74114400-74115400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:74114600-74115200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:74114600-74115400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:74114800-74115000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr11:74114800-74115200	Enhancers	K562	blood
20	chr11:74114800-74115400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:74114800-74115400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:74114800-74115600	Enhancers	Fetal Thymus	thymus

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