Variant report

Variant	esv3420893
Chromosome Location	chr11:65592401-65594949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:65594893-65595209	K562	blood:	n/a	chr11:65595049-65595060 chr11:65595050-65595059
2	CEBPB	chr11:65594938-65595110	HepG2	liver:	n/a	chr11:65595049-65595060 chr11:65595050-65595059
3	CEBPB	chr11:65594898-65595232	HepG2	liver:	n/a	chr11:65595049-65595060 chr11:65595050-65595059
4	CEBPB	chr11:65594912-65595141	K562	blood:	n/a	chr11:65595049-65595060 chr11:65595050-65595059
5	POLR2A	chr11:65594028-65594450	K562	blood:	n/a	n/a
6	POLR2A	chr11:65594476-65594626	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65593037..65595534-chr11:65595946..65598143,2	MCF-7	breast:
2	chr11:65594885..65596938-chr11:65600199..65602076,2	K562	blood:
3	chr11:65580481..65582382-chr11:65594017..65596909,2	K562	blood:
4	chr11:65594533..65596401-chr11:65599655..65602570,2	MCF-7	breast:
5	chr11:65577404..65580770-chr11:65592566..65594874,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFL1-2	chr11:65593793-65594080	NONHSAT022224
2	lnc-CFL1-2	chr11:65594564-65594593	NONHSAT022225

Variant related genes	Relation type
CFL1	TF binding region
ENSG00000172803	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35875679	chr11:65592500-65592501	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570114103	chr11:65592501-65592502	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546548357	chr11:65592514-65592515	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56985040	chr11:65592515-65592516	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397950368	chr11:65592526-65592527	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577397507	chr11:65592546-65592547	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533771774	chr11:65592547-65592548	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538505448	chr11:65592550-65592551	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558710382	chr11:65592666-65592667	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56188510	chr11:65592740-65592741	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56408155	chr11:65592741-65592742	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188905979	chr11:65592770-65592771	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540883266	chr11:65592862-65592863	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139902907	chr11:65592869-65592870	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574057530	chr11:65592883-65592884	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553946978	chr11:65592901-65592902	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193141694	chr11:65592911-65592912	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11227318	chr11:65592935-65592936	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545317460	chr11:65592966-65592967	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565437187	chr11:65592967-65592968	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185275281	chr11:65593065-65593066	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548080763	chr11:65593110-65593111	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567944809	chr11:65593123-65593124	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189185766	chr11:65593153-65593154	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550147925	chr11:65593173-65593174	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4930326	chr11:65593230-65593231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs181208061	chr11:65593240-65593241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374206591	chr11:65593267-65593268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184048301	chr11:65593274-65593275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565512574	chr11:65593281-65593282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188686796	chr11:65593296-65593297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554474400	chr11:65593344-65593345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35083694	chr11:65593357-65593358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376175672	chr11:65593358-65593359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34199490	chr11:65593359-65593360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76128987	chr11:65593442-65593443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs118086960	chr11:65593444-65593445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377414490	chr11:65593467-65593468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7949425	chr11:65593501-65593502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371132557	chr11:65593502-65593503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201047526	chr11:65593547-65593548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533040689	chr11:65593568-65593569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201036370	chr11:65593580-65593581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143848499	chr11:65593587-65593588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374631002	chr11:65593617-65593618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12416798	chr11:65593620-65593621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74402212	chr11:65593640-65593641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76080325	chr11:65593644-65593645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72423757	chr11:65593651-65593652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10896058	chr11:65593654-65593655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65585800-65600200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:65585800-65600600	Weak transcription	Small Intestine	intestine
3	chr11:65586200-65594400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:65589000-65594200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:65589000-65594600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:65590800-65593200	Genic enhancers	Fetal Intestine Small	intestine
7	chr11:65590800-65593800	Enhancers	Fetal Intestine Large	intestine
8	chr11:65591400-65593000	Enhancers	Duodenum Mucosa	Duodenum
9	chr11:65591600-65594400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:65591600-65600400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:65592800-65598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:65593000-65593800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:65593200-65593800	Weak transcription	Fetal Intestine Small	intestine
14	chr11:65593800-65594000	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr11:65593800-65594000	Flanking Active TSS	Fetal Intestine Large	intestine
16	chr11:65593800-65594200	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr11:65594000-65594400	Active TSS	Fetal Intestine Large	intestine
18	chr11:65594000-65594600	Active TSS	Duodenum Mucosa	Duodenum
19	chr11:65594200-65594400	Active TSS	Fetal Intestine Small	intestine
20	chr11:65594400-65594600	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr11:65594400-65594600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr11:65594400-65594800	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr11:65594400-65595600	Enhancers	HepG2	liver
24	chr11:65594400-65596200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:65594600-65594800	Active TSS	Fetal Intestine Large	intestine
26	chr11:65594600-65595000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:65594600-65595200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:65594600-65595200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:65594800-65597200	Enhancers	Fetal Intestine Large	intestine
30	chr11:65594800-65597400	Enhancers	Fetal Intestine Small	intestine

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