Variant report

Variant	esv1827788
Chromosome Location	chr11:58595883-58636405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:302)
CpG islands
(count:674)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:302 , 50 per page) page: 1 2 3 4 5 6 7

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	BATF	chr11:58634982-58635318	GM12878	blood:	n/a	n/a
4	BHLHE40	chr11:58618380-58618658	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:58618487-58618534	HepG2	liver:	n/a	n/a
6	BHLHE40	chr11:58618456-58618676	K562	blood:	n/a	n/a
7	CEBPB	chr11:58599210-58599480	Hela-S3	cervix:	n/a	chr11:58599353-58599366 chr11:58599353-58599364 chr11:58599353-58599366
8	CEBPB	chr11:58627346-58627618	HepG2	liver:	n/a	chr11:58627487-58627498
9	CEBPB	chr11:58604616-58604686	A549	lung:	n/a	n/a
10	CEBPB	chr11:58599213-58599517	IMR90	lung:	n/a	chr11:58599353-58599366 chr11:58599353-58599364 chr11:58599353-58599366
11	CEBPB	chr11:58599321-58599449	A549	lung:	n/a	chr11:58599353-58599366 chr11:58599353-58599364 chr11:58599353-58599366
12	CEBPB	chr11:58607949-58608053	HepG2	liver:	n/a	n/a
13	CEBPB	chr11:58599314-58599468	K562	blood:	n/a	chr11:58599353-58599366 chr11:58599353-58599364 chr11:58599353-58599366
14	CEBPB	chr11:58613026-58613041	K562	blood:	n/a	n/a
15	CEBPB	chr11:58612869-58613254	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr11:58627355-58627619	A549	lung:	n/a	chr11:58627487-58627498
17	CTCF	chr11:58618021-58618150	NHEK	skin:	n/a	n/a
18	CTCF	chr11:58618012-58618106	GM12878	blood:	n/a	n/a
19	CTCF	chr11:58618020-58618170	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:58617951-58618196	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:58617790-58618402	A549	lung:	n/a	n/a
22	CTCF	chr11:58617946-58618241	GM19238	blood:	n/a	n/a
23	CTCF	chr11:58617949-58618220	Gliobla	brain:	n/a	n/a
24	CTCF	chr11:58617979-58618188	LNCaP	prostate:	n/a	n/a
25	CTCF	chr11:58618040-58618190	AG09319	gingival:	n/a	n/a
26	CTCF	chr11:58618040-58618190	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr11:58618040-58618190	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr11:58600480-58600630	GM12867	blood:	n/a	n/a
29	CTCF	chr11:58618020-58618170	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr11:58618040-58618190	GM06990	blood:	n/a	n/a
31	CTCF	chr11:58618040-58618190	SAEC	small airway:	n/a	n/a
32	CTCF	chr11:58618020-58618170	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr11:58617980-58618189	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr11:58618010-58618155	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr11:58617993-58618179	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:58618040-58618190	GM12878	blood:	n/a	n/a
37	CTCF	chr11:58618040-58618190	HepG2	liver:	n/a	n/a
38	CTCF	chr11:58618040-58618190	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr11:58618020-58618170	HCT-116	colon:	n/a	n/a
40	CTCF	chr11:58618040-58618190	HMEC	breast:	n/a	n/a
41	CTCF	chr11:58617980-58618130	GM12866	blood:	n/a	n/a
42	CTCF	chr11:58618060-58618131	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr11:58618020-58618170	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr11:58617897-58618200	A549	lung:	n/a	n/a
45	CTCF	chr11:58618080-58618230	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr11:58618020-58618170	GM06990	blood:	n/a	n/a
47	CTCF	chr11:58629197-58629233	GM20000	blood:	n/a	n/a
48	CTCF	chr11:58617949-58618266	GM19239	blood:	n/a	n/a
49	CTCF	chr11:58597240-58597390	HBMEC	blood vessel:	n/a	chr11:58597286-58597307 chr11:58597284-58597302
50	CTCF	chr11:58617989-58618207	GM12892	blood:	n/a	n/a

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58605832-58605882	HCPEpiC	choroid plexus:	n/a
2	chr11:58612853-58612903	SK-N-MC	brain:	n/a
3	chr11:58612814-58612864	HL-60	blood:	n/a
4	chr11:58605832-58605882	HCPEpiC	choroid plexus:	n/a
5	chr11:58612853-58612903	SK-N-MC	brain:	n/a
6	chr11:58612814-58612864	HL-60	blood:	n/a
7	chr11:58612027-58612077	GM12878	blood:	n/a
8	chr11:58601627-58601677	HCT-116	colon:	n/a
9	chr11:58612853-58612903	HCF	heart:	n/a
10	chr11:58605832-58605882	ProgFib	skin:	n/a
11	chr11:58612853-58612903	RPTEC	kidney:	n/a
12	chr11:58612853-58612903	GM12892	blood:	n/a
13	chr11:58612087-58612137	GM12878	blood:	n/a
14	chr11:58610406-58610456	AG10803	skin:	n/a
15	chr11:58612814-58612864	AG09319	gingival:	n/a
16	chr11:58610406-58610456	HEEpiC	esophagus:	n/a
17	chr11:58612853-58612903	HepG2	liver:	n/a
18	chr11:58610406-58610456	HCF	heart:	n/a
19	chr11:58612814-58612864	AoSMC	blood vessel:	n/a
20	chr11:58612853-58612903	AG09319	gingival:	n/a
21	chr11:58605845-58605895	K562	blood:	n/a
22	chr11:58612853-58612903	U87	brain:	n/a
23	chr11:58612814-58612864	Hepatocyte	liver:	n/a
24	chr11:58612027-58612077	T-47D	breast:	n/a
25	chr11:58598239-58598289	Jurkat	blood:	n/a
26	chr11:58612087-58612137	PFSK-1	brain:	n/a
27	chr11:58598338-58598388	HAEpiC	amniotic membrane:	n/a
28	chr11:58612087-58612137	HL-60	blood:	n/a
29	chr11:58612814-58612864	PFSK-1	brain:	n/a
30	chr11:58605845-58605895	AG09309	skin:	n/a
31	chr11:58610406-58610456	RPTEC	kidney:	n/a
32	chr11:58598338-58598388	ECC-1	luminal epithelium:	n/a
33	chr11:58610406-58610456	BE2_C	brain:	n/a
34	chr11:58601627-58601677	GM12878	blood:	n/a
35	chr11:58612087-58612137	NH-A	brain:	n/a
36	chr11:58612814-58612864	H1-hESC	embryonic stem cell:	embryo
37	chr11:58612087-58612137	U87	brain:	n/a
38	chr11:58612853-58612903	PANC-1	pancreas:	n/a
39	chr11:58612853-58612903	SKMC	muscle:	n/a
40	chr11:58605832-58605882	GM12891	blood:	n/a
41	chr11:58612027-58612077	IMR90	lung:	fetal
42	chr11:58605845-58605895	AG04449	skin:	fetal
43	chr11:58610406-58610456	HRCEpiC	kidney:	n/a
44	chr11:58598338-58598388	HMEC	breast:	n/a
45	chr11:58612027-58612077	AG09309	skin:	n/a
46	chr11:58598239-58598289	HCM	heart:	n/a
47	chr11:58612814-58612864	AG09309	skin:	n/a
48	chr11:58612087-58612137	NB4	blood:	n/a
49	chr11:58605832-58605882	HUVEC	blood vessel:	n/a
50	chr11:58598239-58598289	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58599747..58602498-chr11:58604323..58607050,2	K562	blood:
2	chr11:58599747..58602498-chr11:58604323..58607050,2	K562	blood:

No data

Variant related genes	Relation type
GLYATL2	TF binding region
GLYATL2	CpG island

Extended variants
information (count: 1408 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1408 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7127614	chr11:58595883-58595884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551880809	chr11:58595885-58595886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552646871	chr11:58595930-58595931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12575251	chr11:58595962-58595963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145938620	chr11:58595968-58595969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566248264	chr11:58596019-58596020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181945084	chr11:58596048-58596049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148622378	chr11:58596050-58596051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115962547	chr11:58596075-58596076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529738315	chr11:58596117-58596118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184954410	chr11:58596171-58596172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537796713	chr11:58596175-58596176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558476968	chr11:58596328-58596329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370606626	chr11:58596340-58596341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576836998	chr11:58596357-58596358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546268771	chr11:58596377-58596378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566805894	chr11:58596457-58596458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541095687	chr11:58596477-58596478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142211666	chr11:58596504-58596505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189761943	chr11:58596564-58596565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182381114	chr11:58596574-58596575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563543222	chr11:58596581-58596582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530669139	chr11:58596607-58596608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114703448	chr11:58596618-58596619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544587901	chr11:58596650-58596651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200175287	chr11:58596671-58596672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72929752	chr11:58596685-58596686	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150804755	chr11:58596727-58596728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139131075	chr11:58596783-58596784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529023948	chr11:58596797-58596798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139543382	chr11:58596808-58596809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72929757	chr11:58596866-58596867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188260016	chr11:58596929-58596930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537306182	chr11:58596930-58596931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537597561	chr11:58596931-58596932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145250211	chr11:58596959-58596960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs578092276	chr11:58596973-58596974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs5792127	chr11:58596974-58596975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386373888	chr11:58596980-58596981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530972713	chr11:58596986-58596987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200493884	chr11:58596987-58596988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201757449	chr11:58596988-58596989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201555040	chr11:58596990-58596991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552986132	chr11:58597056-58597057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574829194	chr11:58597059-58597060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535946259	chr11:58597090-58597091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556835131	chr11:58597116-58597117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60243395	chr11:58597135-58597136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191350109	chr11:58597149-58597150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557476904	chr11:58597186-58597187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58593000-58596600	Weak transcription	HMEC	breast
2	chr11:58593200-58596600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:58595600-58598600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:58596600-58597800	Enhancers	HMEC	breast
5	chr11:58596600-58597800	Enhancers	NHEK	skin
6	chr11:58596600-58598000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:58596600-58598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:58596600-58598000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:58596800-58604200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:58597200-58597600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:58597200-58598000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:58597200-58598200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:58597400-58597600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:58597600-58597800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:58597600-58597800	Enhancers	Hela-S3	cervix
16	chr11:58597600-58597800	Enhancers	Osteobl	bone
17	chr11:58597600-58598000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:58597600-58598000	Enhancers	NHDF-Ad	bronchial
19	chr11:58597600-58598200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:58597800-58598200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:58597800-58599000	Weak transcription	NHEK	skin
22	chr11:58597800-58599400	Weak transcription	HMEC	breast
23	chr11:58598000-58598200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:58598000-58598600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:58598000-58599000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:58598000-58599600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:58598200-58598400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:58598200-58598400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:58598200-58598600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:58598200-58598600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:58598200-58598600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:58598200-58598600	Enhancers	Pancreas	Pancrea
33	chr11:58598200-58598600	Active TSS	HepG2	liver
34	chr11:58598200-58598600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
35	chr11:58598400-58598600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:58598400-58598600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr11:58598600-58599400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:58598600-58599800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:58598600-58600200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:58598600-58601200	Weak transcription	HepG2	liver
41	chr11:58599000-58600000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:58599000-58600000	Enhancers	NHEK	skin
43	chr11:58599200-58600200	Enhancers	Fetal Intestine Large	intestine
44	chr11:58599400-58600000	Enhancers	Hela-S3	cervix
45	chr11:58599400-58600200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:58599400-58600400	Enhancers	HMEC	breast
47	chr11:58599600-58600400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:58604200-58605200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:58605200-58605800	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:58605200-58610800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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