Variant report

Variant	esv3353991
Chromosome Location	chr11:5722526-5724774
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	ATF1	chr11:5722795-5722828	K562	blood:	n/a	n/a
2	CEBPB	chr11:5722467-5722831	A549	lung:	n/a	chr11:5722580-5722591
3	CEBPB	chr11:5722482-5722758	HepG2	liver:	n/a	chr11:5722580-5722591
4	CEBPB	chr11:5722438-5722817	Hela-S3	cervix:	n/a	chr11:5722580-5722591
5	CEBPB	chr11:5722409-5722861	A549	lung:	n/a	chr11:5722580-5722591
6	EBF1	chr11:5722718-5722795	GM12878	blood:	n/a	n/a
7	EP300	chr11:5722747-5722865	K562	blood:	n/a	n/a
8	POLR2A	chr11:5722811-5722949	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:5723227-5723304	MCF10A-Er-Src	breast:	n/a	n/a
10	RCOR1	chr11:5722816-5723084	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4988858-5002113..11:5721056-5732713	Hela-S3	cervix:
2	11:5087036-5092291..11:5721056-5732713	K562	blood:
3	chr11:5721533..5723837-chr11:5757099..5760021,2	K562	blood:
4	11:5488942-5494633..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
5	chr11:5700598..5702290-chr11:5720300..5722601,2	K562	blood:
6	11:5586716-5591774..11:5721056-5732713	GM12878	blood:
7	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
8	11:5033143-5038367..11:5721056-5732713	GM12878	blood:
9	chr11:5723116..5725738-chr11:5727470..5730320,2	K562	blood:

Variant related genes	Relation type
TRIM22	TF binding region
ENSG00000227023	chromatin interactions
ENSG00000230484	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000181023	chromatin interactions
ENSG00000224300	chromatin interactions
ENSG00000233646	chromatin interactions
ENSG00000273085	chromatin interactions
ENSG00000225003	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369834461	chr11:5722577-5722578	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs574379412	chr11:5722586-5722587	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs541436062	chr11:5722590-5722591	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs573158350	chr11:5722612-5722613	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs557111929	chr11:5722614-5722615	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs533019926	chr11:5722616-5722617	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs575386000	chr11:5722617-5722618	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs116197947	chr11:5722619-5722620	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs4604919	chr11:5722646-5722647	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181005431	chr11:5722707-5722708	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs541712679	chr11:5722720-5722721	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs548176603	chr11:5722721-5722722	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs76520546	chr11:5722755-5722756	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs10769182	chr11:5722801-5722802	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10769183	chr11:5722807-5722808	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548161933	chr11:5722827-5722828	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs7480654	chr11:5722839-5722840	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10769184	chr11:5722861-5722862	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4290258	chr11:5722948-5722949	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs184699809	chr11:5722993-5722994	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs12577879	chr11:5723022-5723023	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs112176019	chr11:5723033-5723034	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs372452191	chr11:5723055-5723056	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs2343233	chr11:5723066-5723067	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2179	chr11:5723107-5723108	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568232599	chr11:5723129-5723130	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs535468587	chr11:5723161-5723162	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs386750205	chr11:5723166-5723167	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs2178	chr11:5723168-5723169	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189147922	chr11:5723174-5723175	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs540271356	chr11:5723183-5723184	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs75338262	chr11:5723190-5723191	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs577389127	chr11:5723202-5723203	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs574515512	chr11:5723223-5723224	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs541230447	chr11:5723256-5723257	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs560029266	chr11:5723270-5723271	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs543428630	chr11:5723271-5723272	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs376154518	chr11:5723292-5723293	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs200856329	chr11:5723317-5723318	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs558958238	chr11:5723320-5723321	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs575010414	chr11:5723341-5723342	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs113324017	chr11:5723366-5723367	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs532219886	chr11:5723405-5723406	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs373477526	chr11:5723411-5723412	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs201227045	chr11:5723415-5723416	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs565558979	chr11:5723551-5723552	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs111292193	chr11:5723578-5723579	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs530774733	chr11:5723750-5723751	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs117350827	chr11:5723853-5723854	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs77182256	chr11:5723855-5723856	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5712000-5723000	Weak transcription	Fetal Stomach	stomach
2	chr11:5712200-5723600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:5712200-5725200	Weak transcription	Fetal Heart	heart
4	chr11:5712400-5723000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:5712400-5723000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:5712400-5730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:5712400-5730600	Weak transcription	Fetal Lung	lung
8	chr11:5712400-5731800	Weak transcription	NH-A	brain
9	chr11:5712400-5732400	Weak transcription	Pancreas	Pancrea
10	chr11:5712400-5732400	Weak transcription	Stomach Mucosa	stomach
11	chr11:5712600-5723800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:5712600-5729200	Weak transcription	Esophagus	oesophagus
13	chr11:5712600-5730200	Weak transcription	NHEK	skin
14	chr11:5712600-5732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:5712600-5732600	Weak transcription	Colonic Mucosa	Colon
16	chr11:5713000-5723000	Weak transcription	Right Ventricle	heart
17	chr11:5713000-5726000	Weak transcription	Left Ventricle	heart
18	chr11:5713000-5734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:5713600-5730800	Weak transcription	Brain Anterior Caudate	brain
20	chr11:5713600-5734800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:5713600-5745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:5713800-5729800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:5713800-5731200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:5714000-5732600	Weak transcription	Brain Substantia Nigra	brain
25	chr11:5715200-5733000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:5715800-5729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:5716200-5724200	Strong transcription	Osteobl	bone
28	chr11:5717400-5722800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:5717400-5726200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:5717400-5732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:5717400-5734400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:5717600-5731200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:5717600-5732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:5718000-5728800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:5718000-5734600	Weak transcription	HUVEC	blood vessel
36	chr11:5718400-5729000	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:5718800-5722600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:5720000-5722600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:5720000-5722600	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:5720000-5727000	Weak transcription	Ovary	ovary
41	chr11:5720000-5727600	Weak transcription	HSMMtube	muscle
42	chr11:5720000-5729200	Weak transcription	Aorta	Aorta
43	chr11:5720000-5729200	Weak transcription	Gastric	stomach
44	chr11:5720000-5729200	Weak transcription	Spleen	Spleen
45	chr11:5720000-5732600	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:5720200-5722800	Weak transcription	Thymus	Thymus
47	chr11:5720200-5723800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:5720200-5724000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:5720200-5724200	Weak transcription	Liver	Liver
50	chr11:5720200-5724400	Weak transcription	Primary T cells from cord blood	blood

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