Variant report

Variant	esv15332
Chromosome Location	chr11:58614671-58633269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:196)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:196 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:58618228-58618642	GM12878	blood:	n/a	n/a
2	BATF	chr11:58618422-58618712	GM12878	blood:	n/a	n/a
3	BHLHE40	chr11:58618456-58618676	K562	blood:	n/a	n/a
4	BHLHE40	chr11:58618487-58618534	HepG2	liver:	n/a	n/a
5	BHLHE40	chr11:58618380-58618658	GM12878	blood:	n/a	n/a
6	CEBPB	chr11:58627355-58627619	A549	lung:	n/a	chr11:58627487-58627498
7	CEBPB	chr11:58627346-58627618	HepG2	liver:	n/a	chr11:58627487-58627498
8	CTCF	chr11:58617980-58618130	GM12866	blood:	n/a	n/a
9	CTCF	chr11:58617951-58618196	LNCaP	prostate:	n/a	n/a
10	CTCF	chr11:58617968-58618225	HepG2	liver:	n/a	n/a
11	CTCF	chr11:58618040-58618190	AG04449	skin:	n/a	n/a
12	CTCF	chr11:58617960-58618205	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr11:58618040-58618190	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr11:58618000-58618108	GM13976	blood:	n/a	n/a
15	CTCF	chr11:58618020-58618170	GM12872	blood:	n/a	n/a
16	CTCF	chr11:58617980-58618130	GM12870	blood:	n/a	n/a
17	CTCF	chr11:58618040-58618190	Caco-2	colon:	n/a	n/a
18	CTCF	chr11:58617862-58618325	A549	lung:	n/a	n/a
19	CTCF	chr11:58617995-58618178	GM10266	blood:	n/a	n/a
20	CTCF	chr11:58618072-58618146	K562	blood:	n/a	n/a
21	CTCF	chr11:58618020-58618170	GM12867	blood:	n/a	n/a
22	CTCF	chr11:58618040-58618190	GM12872	blood:	n/a	n/a
23	CTCF	chr11:58618040-58618190	GM12875	blood:	n/a	n/a
24	CTCF	chr11:58618020-58618170	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr11:58617980-58618130	HCT-116	colon:	n/a	n/a
26	CTCF	chr11:58618040-58618190	GM12869	blood:	n/a	n/a
27	CTCF	chr11:58617989-58618152	Fibrobl	skin:	n/a	n/a
28	CTCF	chr11:58618021-58618150	NHEK	skin:	n/a	n/a
29	CTCF	chr11:58617928-58618257	A549	lung:	n/a	n/a
30	CTCF	chr11:58618040-58618190	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr11:58617934-58618254	K562	blood:	n/a	n/a
32	CTCF	chr11:58618260-58618410	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr11:58618005-58618109	Lung_OC	lung:	n/a	n/a
34	CTCF	chr11:58617954-58618162	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:58618000-58618150	GM12865	blood:	n/a	n/a
36	CTCF	chr11:58617993-58618179	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:58617979-58618184	ProgFib	skin:	n/a	n/a
38	CTCF	chr11:58618040-58618190	SAEC	small airway:	n/a	n/a
39	CTCF	chr11:58618040-58618190	HMEC	breast:	n/a	n/a
40	CTCF	chr11:58618060-58618131	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr11:58618012-58618106	GM12878	blood:	n/a	n/a
42	CTCF	chr11:58618020-58618170	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr11:58617989-58618160	MCF-7	breast:	n/a	n/a
44	CTCF	chr11:58618040-58618190	HRE	kidney:	n/a	n/a
45	CTCF	chr11:58618000-58618150	BJ	skin:	n/a	n/a
46	CTCF	chr11:58617979-58618166	HepG2	liver:	n/a	n/a
47	CTCF	chr11:58618020-58618170	HAc	cerebellar:	n/a	n/a
48	CTCF	chr11:58618000-58618150	GM12874	blood:	n/a	n/a
49	CTCF	chr11:58618040-58618190	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr11:58618040-58618190	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
GLYATL2	TF binding region

Extended variants
information (count: 496 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541223652	chr11:58614719-58614720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75597539	chr11:58614759-58614760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1943289	chr11:58614804-58614805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542186113	chr11:58614806-58614807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528249782	chr11:58614859-58614860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530571073	chr11:58614874-58614875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112023868	chr11:58614892-58614893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146080459	chr11:58614893-58614894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1943290	chr11:58614945-58614946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78254416	chr11:58614969-58614970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184651062	chr11:58615004-58615005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553267258	chr11:58615007-58615008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1943291	chr11:58615090-58615091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568292104	chr11:58615108-58615109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189519022	chr11:58615119-58615120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550569719	chr11:58615135-58615136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569142179	chr11:58615155-58615156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539018345	chr11:58615175-58615176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557782425	chr11:58615178-58615179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192973357	chr11:58615209-58615210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567872681	chr11:58615226-58615227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368512910	chr11:58615272-58615273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560709763	chr11:58615298-58615299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61889909	chr11:58615313-58615314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553127515	chr11:58615325-58615326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574664169	chr11:58615369-58615370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553699222	chr11:58615374-58615375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1943292	chr11:58615397-58615398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575894555	chr11:58615403-58615404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369477909	chr11:58615404-58615405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1943293	chr11:58615434-58615435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185061532	chr11:58615458-58615459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540704535	chr11:58615466-58615467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56234893	chr11:58615471-58615472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376905957	chr11:58615509-58615510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562181328	chr11:58615515-58615516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113320437	chr11:58615571-58615572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1943294	chr11:58615577-58615578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141906912	chr11:58615582-58615583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190301304	chr11:58615632-58615633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550947576	chr11:58615648-58615649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566157410	chr11:58615684-58615685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146300404	chr11:58615757-58615758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1943295	chr11:58615801-58615802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs1943296	chr11:58615805-58615806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139272710	chr11:58615840-58615841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557576637	chr11:58615858-58615859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528709409	chr11:58615861-58615862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575268083	chr11:58615879-58615880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546508499	chr11:58615973-58615974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	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
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58613000-58618000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:58614000-58615000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:58617600-58618000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:58618000-58618600	Active TSS	Liver	Liver
5	chr11:58618000-58618800	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:58619800-58620000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:58620000-58623800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:58623800-58624800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr11:58631000-58631400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:58631000-58631400	ZNF genes & repeats	Thymus	Thymus
11	chr11:58631200-58631400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:58631400-58635000	Enhancers	Thymus	Thymus
13	chr11:58631600-58632400	Enhancers	Fetal Thymus	thymus
14	chr11:58632400-58632800	Weak transcription	Fetal Thymus	thymus
15	chr11:58632800-58634600	Enhancers	Fetal Thymus	thymus

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