Variant report

Variant	esv3408148
Chromosome Location	chr11:47579351-47581549
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	chr11:47579450-47579489	HepG2	liver:	n/a	chr11:47579463-47579474
2	CTCF	chr11:47581262-47581305	GM13976	blood:	n/a	n/a
3	POLR2A	chr11:47581414-47581474	K562	blood:	n/a	n/a
4	ZNF274	chr11:47580224-47580764	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47578751..47581226-chr11:47586015..47587663,2	K562	blood:
2	chr11:47571243..47573652-chr11:47580748..47583116,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KBTBD4-2	chr11:47579088-47579385	NONHSAT021258

Variant related genes	Relation type
CELF1	TF binding region
RN7SL652P	TF binding region
ENSG00000213619	chromatin interactions
ENSG00000110536	chromatin interactions
ENSG00000149187	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149966143	chr11:47579356-47579357	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs536071513	chr11:47579369-47579370	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs115413037	chr11:47579395-47579396	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs566478170	chr11:47579413-47579414	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs568894179	chr11:47579415-47579416	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs113801900	chr11:47579485-47579486	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs181111469	chr11:47579540-47579541	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs112302777	chr11:47579661-47579662	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs574874540	chr11:47579664-47579665	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs544166944	chr11:47579667-47579668	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs112698108	chr11:47579668-47579669	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs111325240	chr11:47579684-47579685	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs554383838	chr11:47579688-47579689	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs574434094	chr11:47579689-47579690	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs569912020	chr11:47579730-47579731	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs537190237	chr11:47579752-47579753	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs540471993	chr11:47579877-47579878	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs186522307	chr11:47579944-47579945	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs564492811	chr11:47579991-47579992	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs532897127	chr11:47579999-47580000	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs4752847	chr11:47580003-47580004	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs546503427	chr11:47580006-47580007	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs567019942	chr11:47580047-47580048	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs34456525	chr11:47580062-47580063	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs201565536	chr11:47580063-47580064	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs35375058	chr11:47580065-47580066	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs113099129	chr11:47580115-47580116	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs199671039	chr11:47580127-47580128	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs55752992	chr11:47580128-47580129	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs11039294	chr11:47580139-47580140	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs11039295	chr11:47580141-47580142	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs562895983	chr11:47580190-47580191	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs66837813	chr11:47580203-47580204	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs61613784	chr11:47580208-47580209	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs191337866	chr11:47580214-47580215	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs369273799	chr11:47580233-47580234	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs28509333	chr11:47580252-47580253	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs28437014	chr11:47580253-47580254	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs111218695	chr11:47580258-47580259	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs542367889	chr11:47580266-47580267	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs548527266	chr11:47580300-47580301	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs544590666	chr11:47580331-47580332	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs181758456	chr11:47580334-47580335	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs61362662	chr11:47580340-47580341	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs527783873	chr11:47580368-47580369	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs199556616	chr11:47580486-47580487	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs185962949	chr11:47580534-47580535	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs72907988	chr11:47580570-47580571	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs200699733	chr11:47580581-47580582	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs112714817	chr11:47580583-47580584	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47575200-47586000	Weak transcription	HSMMtube	muscle
2	chr11:47575200-47586200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:47575200-47586200	Weak transcription	Placenta	Placenta
4	chr11:47575200-47586400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:47575200-47586400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:47575200-47586400	Weak transcription	Psoas Muscle	Psoas
7	chr11:47575200-47586600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:47575200-47586600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:47575200-47586600	Weak transcription	Gastric	stomach
10	chr11:47575200-47586600	Weak transcription	Ovary	ovary
11	chr11:47575400-47581600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:47575400-47581600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:47575400-47581800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:47575400-47581800	Weak transcription	Osteobl	bone
15	chr11:47575400-47586000	Weak transcription	Primary B cells from cord blood	blood
16	chr11:47575400-47586200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:47575400-47586200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:47575400-47586200	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:47575400-47586200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:47575400-47586200	Weak transcription	A549	lung
21	chr11:47575400-47586200	Weak transcription	NHEK	skin
22	chr11:47575400-47586400	Weak transcription	Brain Angular Gyrus	brain
23	chr11:47575400-47586400	Weak transcription	Fetal Stomach	stomach
24	chr11:47575400-47586400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:47575400-47586400	Weak transcription	NH-A	brain
26	chr11:47575600-47581600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:47575600-47581600	Weak transcription	Hela-S3	cervix
28	chr11:47575600-47584400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:47575600-47585800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:47575600-47585800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:47575600-47586200	Weak transcription	NHDF-Ad	bronchial
32	chr11:47575600-47586600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:47575800-47581600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:47575800-47582000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:47575800-47586200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:47576000-47586000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:47576200-47585800	Weak transcription	Dnd41	blood
38	chr11:47576200-47586200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:47578400-47586600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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