Variant report

Variant	esv988030
Chromosome Location	chr11:5721491-5722940
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	chr11:5722409-5722861	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	chr11:5722467-5722831	A549	lung:	n/a	chr11:5722580-5722591
6	EBF1	chr11:5721748-5721859	GM12878	blood:	n/a	n/a
7	EBF1	chr11:5722718-5722795	GM12878	blood:	n/a	n/a
8	EP300	chr11:5722747-5722865	K562	blood:	n/a	n/a
9	MAX	chr11:5721840-5722040	NB4	blood:	n/a	n/a
10	MYC	chr11:5721858-5721867	NB4	blood:	n/a	n/a
11	POLR2A	chr11:5721481-5721529	Gliobla	brain:	n/a	n/a
12	POLR2A	chr11:5721796-5722214	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:5722811-5722949	MCF10A-Er-Src	breast:	n/a	n/a
14	RCOR1	chr11:5722816-5723084	K562	blood:	n/a	n/a
15	TBP	chr11:5722247-5722434	GM12878	blood:	n/a	n/a
16	WRNIP1	chr11:5721400-5721577	GM12878	blood:	n/a	n/a
17	ZNF384	chr11:5721567-5722081	K562	blood:	n/a	n/a
18	ZNF384	chr11:5720740-5722135	GM12878	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	chr11:5721533..5723837-chr11:5757099..5760021,2	K562	blood:
3	chr11:5700598..5702290-chr11:5720300..5722601,2	K562	blood:
4	11:5586716-5591774..11:5721056-5732713	GM12878	blood:
5	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
6	11:5033143-5038367..11:5721056-5732713	GM12878	blood:
7	11:5488942-5494633..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
8	11:5087036-5092291..11:5721056-5732713	K562	blood:

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

Extended variants
information (count: 79 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76349001	chr11:5721510-5721511	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs548546072	chr11:5721548-5721549	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs538990574	chr11:5721552-5721553	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs553986906	chr11:5721592-5721593	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs386750203	chr11:5721620-5721621	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs117697392	chr11:5721629-5721630	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs11038760	chr11:5721630-5721631	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575970222	chr11:5721635-5721636	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs185086067	chr11:5721636-5721637	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs10838556	chr11:5721640-5721641	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs118189362	chr11:5721669-5721670	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs540988350	chr11:5721708-5721709	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs386750204	chr11:5721717-5721718	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs7927644	chr11:5721718-5721719	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs113355678	chr11:5721729-5721730	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs561459166	chr11:5721751-5721752	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs531902433	chr11:5721766-5721767	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs12418644	chr11:5721770-5721771	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536385982	chr11:5721785-5721786	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs571944879	chr11:5721789-5721790	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs200930475	chr11:5721814-5721815	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs57842832	chr11:5721834-5721835	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs369811867	chr11:5721835-5721836	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs12362534	chr11:5721838-5721839	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs538688903	chr11:5721855-5721856	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs12795745	chr11:5721856-5721857	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs140039913	chr11:5721888-5721889	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs566085778	chr11:5721896-5721897	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs149819754	chr11:5721905-5721906	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs12362546	chr11:5721909-5721910	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs554722902	chr11:5721912-5721913	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs12803331	chr11:5721922-5721923	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs370529610	chr11:5721927-5721928	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs192863047	chr11:5721933-5721934	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs145820941	chr11:5721957-5721958	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs576711772	chr11:5721977-5721978	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs112248960	chr11:5721996-5721997	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs552930789	chr11:5721997-5721998	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs2133260	chr11:5722026-5722027	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12418664	chr11:5722038-5722039	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs184896942	chr11:5722092-5722093	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs2133261	chr11:5722100-5722101	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558399430	chr11:5722135-5722136	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs2133262	chr11:5722136-5722137	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs71468052	chr11:5722164-5722165	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs59716493	chr11:5722172-5722173	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs188099817	chr11:5722207-5722208	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs368142851	chr11:5722288-5722289	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs572670691	chr11:5722333-5722334	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs532835094	chr11:5722337-5722338	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Bipolar disorder	19114987	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:147 , 50 per page) page: 1 2 3

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	chr11:5717200-5721600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr11:5717200-5721600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:5717200-5721600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:5717400-5721800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:5717400-5722800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:5717400-5726200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:5717400-5732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:5717400-5734400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:5717600-5722000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:5717600-5722400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:5717600-5731200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr11:5717600-5732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:5717800-5722000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:5718000-5728800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:5718000-5734600	Weak transcription	HUVEC	blood vessel
43	chr11:5718400-5729000	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:5718800-5722600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:5720000-5721600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:5720000-5722600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:5720000-5722600	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:5720000-5727000	Weak transcription	Ovary	ovary
49	chr11:5720000-5727600	Weak transcription	HSMMtube	muscle
50	chr11:5720000-5729200	Weak transcription	Aorta	Aorta

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