Variant report

Variant	esv3345087
Chromosome Location	chr11:58808601-58810624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:58810270-58810328	GM10266	blood:	n/a	n/a
2	CTCF	chr11:58808800-58808858	GM13976	blood:	n/a	n/a
3	POLR2A	chr11:58810380-58810458	Gliobla	brain:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58810187-58810237	HRE	kidney:	n/a
2	chr11:58810187-58810237	HRE	kidney:	n/a
3	chr11:58810187-58810237	SK-N-MC	brain:	n/a
4	chr11:58810187-58810237	HCF	heart:	n/a
5	chr11:58810187-58810237	MCF-7	breast:	n/a
6	chr11:58810187-58810237	MCF10A-Er-Src	breast:	n/a
7	chr11:58810187-58810237	K562	blood:	n/a
8	chr11:58810187-58810237	Caco-2	colon:	n/a
9	chr11:58810187-58810237	Hela-S3	cervix:	n/a
10	chr11:58810187-58810237	PrEC	prostate:	n/a
11	chr11:58810187-58810237	HNPCEpiC	eye:	n/a
12	chr11:58810187-58810237	ProgFib	skin:	n/a
13	chr11:58810187-58810237	HL-60	blood:	n/a
14	chr11:58810187-58810237	T-47D	breast:	n/a
15	chr11:58810187-58810237	GM06990	blood:	n/a
16	chr11:58810187-58810237	Hepatocyte	liver:	n/a
17	chr11:58810187-58810237	GM12878	blood:	n/a
18	chr11:58810187-58810237	Jurkat	blood:	n/a
19	chr11:58810187-58810237	HRCEpiC	kidney:	n/a
20	chr11:58810187-58810237	HUVEC	blood vessel:	n/a
21	chr11:58810187-58810237	HIPEpiC	eye:	n/a
22	chr11:58810187-58810237	GM12891	blood:	n/a
23	chr11:58810187-58810237	HCM	heart:	n/a
24	chr11:58810187-58810237	HEK293	kidney:	embryo
25	chr11:58810187-58810237	HCT-116	colon:	n/a
26	chr11:58810187-58810237	HCPEpiC	choroid plexus:	n/a
27	chr11:58810187-58810237	AG04449	skin:	fetal
28	chr11:58810187-58810237	U87	brain:	n/a
29	chr11:58810187-58810237	GM12892	blood:	n/a
30	chr11:58810187-58810237	HEEpiC	esophagus:	n/a
31	chr11:58810187-58810237	BE2_C	brain:	n/a
32	chr11:58810187-58810237	H1-hESC	embryonic stem cell:	embryo
33	chr11:58810187-58810237	BJ	skin:	n/a
34	chr11:58810187-58810237	SKMC	muscle:	n/a
35	chr11:58810187-58810237	AG10803	skin:	n/a
36	chr11:58810187-58810237	CMK	blood:	n/a
37	chr11:58810187-58810237	ovcar-3	ovarian:	n/a
38	chr11:58810187-58810237	GM19239	blood:	n/a
39	chr11:58810187-58810237	AG09319	gingival:	n/a
40	chr11:58810187-58810237	NHDF-neo	bronchial:	n/a
41	chr11:58810187-58810237	HAEpiC	amniotic membrane:	n/a
42	chr11:58810187-58810237	NH-A	brain:	n/a
43	chr11:58810187-58810237	PANC-1	pancreas:	n/a
44	chr11:58810187-58810237	PFSK-1	brain:	n/a
45	chr11:58810187-58810237	NT2-D1	testis:	n/a
46	chr11:58810187-58810237	SK-N-SH_RA	brain:	n/a
47	chr11:58810187-58810237	NB4	blood:	n/a
48	chr11:58810187-58810237	SAEC	small airway:	n/a
49	chr11:58810187-58810237	AG04450	lung:	fetal
50	chr11:58810187-58810237	AG09309	skin:	n/a

No data

Variant related genes	Relation type
GLYATL1P4	TF binding region
GLYATL1P4	CpG island

Extended variants
information (count: 116 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565000036	chr11:58808612-58808613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184614426	chr11:58808614-58808615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61891787	chr11:58808630-58808631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189932683	chr11:58808693-58808694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559275394	chr11:58808714-58808715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140876764	chr11:58808716-58808717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144692674	chr11:58808722-58808723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544068605	chr11:58808724-58808725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375861118	chr11:58808732-58808733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111532171	chr11:58808766-58808767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563866145	chr11:58808776-58808777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530483196	chr11:58808778-58808779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552309275	chr11:58808790-58808791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370805296	chr11:58808791-58808792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573812365	chr11:58808822-58808823	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542345592	chr11:58808827-58808828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs374356237	chr11:58808846-58808847	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs373916405	chr11:58808866-58808867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60247047	chr11:58808870-58808871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113124236	chr11:58808895-58808896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554935034	chr11:58808913-58808914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11229765	chr11:58808972-58808973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs508261	chr11:58808979-58808980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs508231	chr11:58808984-58808985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11229766	chr11:58808992-58808993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs507592	chr11:58808996-58808997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374578246	chr11:58809012-58809013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558527759	chr11:58809013-58809014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2720339	chr11:58809045-58809046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576967877	chr11:58809068-58809069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541112102	chr11:58809120-58809121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61603052	chr11:58809154-58809155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs59740763	chr11:58809164-58809165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567108237	chr11:58809175-58809176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371713407	chr11:58809193-58809194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542123548	chr11:58809210-58809211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11229767	chr11:58809238-58809239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs61891796	chr11:58809246-58809247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs61891797	chr11:58809251-58809252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373420926	chr11:58809303-58809304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377054015	chr11:58809304-58809305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368756361	chr11:58809305-58809306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564062009	chr11:58809336-58809337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528227027	chr11:58809364-58809365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61891798	chr11:58809408-58809409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111523517	chr11:58809448-58809449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546354342	chr11:58809465-58809466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377138368	chr11:58809561-58809562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201327352	chr11:58809570-58809571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373835915	chr11:58809613-58809614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58782800-58810600	Weak transcription	Primary B cells from cord blood	blood
2	chr11:58805000-58825200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:58805200-58825400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:58808000-58810800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:58810600-58811400	Strong transcription	Primary B cells from cord blood	blood

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