Variant report

Variant	esv3392255
Chromosome Location	chr11:58828988-58858878
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	ATF2	chr11:58831671-58832143	GM12878	blood:	n/a	n/a
2	ATF2	chr11:58831402-58832419	GM12878	blood:	n/a	n/a
3	BATF	chr11:58831786-58832150	GM12878	blood:	n/a	chr11:58831926-58831934
4	BATF	chr11:58831416-58832275	GM12878	blood:	n/a	chr11:58831926-58831934
5	BATF	chr11:58831471-58831776	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:58831528-58832157	GM12878	blood:	n/a	n/a
7	BCL11A	chr11:58831483-58831904	GM12878	blood:	n/a	n/a
8	BCL3	chr11:58831794-58832281	GM12878	blood:	n/a	n/a
9	CEBPB	chr11:58835627-58835890	IMR90	lung:	n/a	chr11:58835780-58835791
10	CEBPB	chr11:58852160-58852235	HepG2	liver:	n/a	n/a
11	CEBPB	chr11:58835714-58835923	HepG2	liver:	n/a	chr11:58835780-58835791
12	CEBPB	chr11:58850700-58850889	HepG2	liver:	n/a	n/a
13	CEBPB	chr11:58835676-58835875	K562	blood:	n/a	chr11:58835780-58835791
14	CEBPB	chr11:58841369-58841519	IMR90	lung:	n/a	n/a
15	CREB1	chr11:58845805-58846333	GM12878	blood:	n/a	n/a
16	CREB1	chr11:58845766-58846361	GM12878	blood:	n/a	n/a
17	CTCF	chr11:58845880-58846030	GM12865	blood:	n/a	n/a
18	CTCF	chr11:58843660-58843810	GM12869	blood:	n/a	n/a
19	CUX1	chr11:58831912-58832107	GM12878	blood:	n/a	n/a
20	E2F6	chr11:58830267-58830616	H1-hESC	embryonic stem cell:	n/a	chr11:58830466-58830473 chr11:58830466-58830473 chr11:58830466-58830473
21	E2F6	chr11:58830811-58831064	H1-hESC	embryonic stem cell:	n/a	chr11:58830921-58830928 chr11:58830920-58830929 chr11:58830921-58830928 chr11:58830921-58830928 chr11:58830917-58830929
22	E2F6	chr11:58830678-58831103	H1-hESC	embryonic stem cell:	n/a	chr11:58830921-58830928 chr11:58830920-58830929 chr11:58830731-58830740 chr11:58830921-58830928 chr11:58830921-58830928 chr11:58830917-58830929
23	E2F6	chr11:58830329-58830529	K562	blood:	n/a	chr11:58830466-58830473 chr11:58830466-58830473 chr11:58830466-58830473
24	E2F6	chr11:58830790-58831032	K562	blood:	n/a	chr11:58830921-58830928 chr11:58830920-58830929 chr11:58830921-58830928 chr11:58830921-58830928 chr11:58830917-58830929
25	E2F6	chr11:58830226-58830630	H1-hESC	embryonic stem cell:	n/a	chr11:58830466-58830473 chr11:58830466-58830473 chr11:58830466-58830473
26	E2F6	chr11:58830735-58831007	K562	blood:	n/a	chr11:58830921-58830928 chr11:58830920-58830929 chr11:58830921-58830928 chr11:58830921-58830928 chr11:58830917-58830929
27	EBF1	chr11:58844741-58844980	GM12878	blood:	n/a	n/a
28	EBF1	chr11:58831598-58832231	GM12878	blood:	n/a	n/a
29	EBF1	chr11:58831393-58831953	GM12878	blood:	n/a	n/a
30	EBF1	chr11:58832820-58833090	GM12878	blood:	n/a	chr11:58832956-58832967
31	EBF1	chr11:58832856-58833023	GM12878	blood:	n/a	chr11:58832956-58832967
32	EBF1	chr11:58832908-58833002	GM12878	blood:	n/a	chr11:58832956-58832967
33	ELF1	chr11:58830326-58830805	GM12878	blood:	n/a	n/a
34	EP300	chr11:58844773-58845016	GM12878	blood:	n/a	n/a
35	EP300	chr11:58831940-58832134	GM12878	blood:	n/a	n/a
36	FOS	chr11:58836635-58836907	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr11:58836619-58836939	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:58836664-58836888	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr11:58847087-58847113	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr11:58836629-58836931	MCF10A-Er-Src	breast:	n/a	n/a
41	FOSL2	chr11:58830717-58830909	HepG2	liver:	n/a	chr11:58830808-58830817 chr11:58830810-58830817 chr11:58830809-58830817 chr11:58830809-58830818
42	FOXM1	chr11:58831385-58832286	GM12878	blood:	n/a	n/a
43	IKZF1	chr11:58831537-58832085	GM12878	blood:	n/a	n/a
44	IRF4	chr11:58831396-58832197	GM12878	blood:	n/a	n/a
45	IRF4	chr11:58831377-58832218	GM12878	blood:	n/a	n/a
46	JUND	chr11:58830847-58830938	K562	blood:	n/a	n/a
47	JUND	chr11:58830523-58831134	SK-N-SH	brain:	n/a	chr11:58830808-58830817 chr11:58830810-58830817 chr11:58830809-58830817 chr11:58830809-58830818
48	MAX	chr11:58830688-58831037	K562	blood:	n/a	chr11:58830808-58830817 chr11:58830809-58830818 chr11:58830997-58831008
49	MAX	chr11:58830412-58830682	SK-N-SH	brain:	n/a	chr11:58830476-58830485 chr11:58830476-58830485 chr11:58830477-58830484 chr11:58830476-58830486 chr11:58830471-58830490
50	MAX	chr11:58830816-58830945	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58830424-58830474	NHBE	bronchial:	n/a
2	chr11:58830424-58830474	NB4	blood:	n/a
3	chr11:58833356-58833406	HRE	kidney:	n/a
4	chr11:58830424-58830474	NT2-D1	testis:	n/a
5	chr11:58830857-58830907	HUVEC	blood vessel:	n/a
6	chr11:58833356-58833406	NT2-D1	testis:	n/a
7	chr11:58830355-58830405	ProgFib	skin:	n/a
8	chr11:58833356-58833406	HEEpiC	esophagus:	n/a
9	chr11:58830191-58830241	HRPEpiC	eye:	n/a
10	chr11:58830610-58830660	SAEC	small airway:	n/a
11	chr11:58830191-58830241	GM12892	blood:	n/a
12	chr11:58830355-58830405	HCM	heart:	n/a
13	chr11:58830355-58830405	HCF	heart:	n/a
14	chr11:58830610-58830660	K562	blood:	n/a
15	chr11:58830857-58830907	NH-A	brain:	n/a
16	chr11:58830424-58830474	HIPEpiC	eye:	n/a
17	chr11:58830191-58830241	AoSMC	blood vessel:	n/a
18	chr11:58830424-58830474	HCM	heart:	n/a
19	chr11:58830424-58830474	NH-A	brain:	n/a
20	chr11:58830857-58830907	NB4	blood:	n/a
21	chr11:58833356-58833406	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:58830355-58830405	PFSK-1	brain:	n/a
23	chr11:58830191-58830241	GM12878	blood:	n/a
24	chr11:58830355-58830405	SK-N-SH	brain:	n/a
25	chr11:58833356-58833406	PFSK-1	brain:	n/a
26	chr11:58830191-58830241	SAEC	small airway:	n/a
27	chr11:58830191-58830241	NT2-D1	testis:	n/a
28	chr11:58830191-58830241	NB4	blood:	n/a
29	chr11:58830610-58830660	PrEC	prostate:	n/a
30	chr11:58830424-58830474	U87	brain:	n/a
31	chr11:58830857-58830907	RPTEC	kidney:	n/a
32	chr11:58830191-58830241	ProgFib	skin:	n/a
33	chr11:58830424-58830474	T-47D	breast:	n/a
34	chr11:58830857-58830907	IMR90	lung:	fetal
35	chr11:58830191-58830241	GM06990	blood:	n/a
36	chr11:58830355-58830405	K562	blood:	n/a
37	chr11:58830355-58830405	Hela-S3	cervix:	n/a
38	chr11:58830857-58830907	HRPEpiC	eye:	n/a
39	chr11:58830610-58830660	CMK	blood:	n/a
40	chr11:58830857-58830907	AG10803	skin:	n/a
41	chr11:58830191-58830241	HCM	heart:	n/a
42	chr11:58833356-58833406	IMR90	lung:	fetal
43	chr11:58830857-58830907	HRCEpiC	kidney:	n/a
44	chr11:58830610-58830660	T-47D	breast:	n/a
45	chr11:58830610-58830660	GM06990	blood:	n/a
46	chr11:58830610-58830660	HCT-116	colon:	n/a
47	chr11:58830424-58830474	AG09309	skin:	n/a
48	chr11:58830857-58830907	AG09309	skin:	n/a
49	chr11:58830355-58830405	NT2-D1	testis:	n/a
50	chr11:58830857-58830907	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58830364..58831268-chr11:58873992..58874927,2	HCT-116	colon:
2	chr11:58399679..58402149-chr11:58838160..58840024,2	K562	blood:

Variant related genes	Relation type
ENSG00000255240	TF binding region
GLYATL1P3	TF binding region
ENSG00000255240	CpG island
GLYATL1P3	CpG island
ENSG00000189057	chromatin interactions

Extended variants
information (count: 931 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:931 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535431133	chr11:58829023-58829024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371014132	chr11:58829024-58829025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528406306	chr11:58829031-58829032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543440973	chr11:58829040-58829041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565014538	chr11:58829064-58829065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532231809	chr11:58829112-58829113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545646391	chr11:58829178-58829179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544918610	chr11:58829182-58829183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560700562	chr11:58829236-58829237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116535117	chr11:58829241-58829242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575589771	chr11:58829242-58829243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192066078	chr11:58829243-58829244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530624719	chr11:58829294-58829295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531633163	chr11:58829309-58829310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146573788	chr11:58829339-58829340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571434691	chr11:58829383-58829384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538717045	chr11:58829408-58829409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371541400	chr11:58829435-58829436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565829228	chr11:58829463-58829464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61008980	chr11:58829472-58829473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182001017	chr11:58829488-58829489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374305215	chr11:58829490-58829491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529366166	chr11:58829498-58829499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187609276	chr11:58829504-58829505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543478441	chr11:58829575-58829576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190643331	chr11:58829584-58829585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577036319	chr11:58829603-58829604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141314183	chr11:58829617-58829618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560522769	chr11:58829629-58829630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527932486	chr11:58829639-58829640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542842940	chr11:58829670-58829671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149765351	chr11:58829699-58829700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367711940	chr11:58829715-58829716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114391790	chr11:58829725-58829726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145720797	chr11:58829746-58829747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571271188	chr11:58829768-58829769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532481803	chr11:58829803-58829804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566080574	chr11:58829868-58829869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182934259	chr11:58829879-58829880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566040751	chr11:58829908-58829909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377475771	chr11:58829928-58829929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534985851	chr11:58829973-58829974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552103286	chr11:58829980-58829981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148998153	chr11:58829992-58829993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571928291	chr11:58830025-58830026	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77213431	chr11:58830052-58830053	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537315361	chr11:58830064-58830065	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142423906	chr11:58830078-58830079	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71064499	chr11:58830079-58830080	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186992800	chr11:58830093-58830094	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58826000-58830000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:58830000-58830200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:58830000-58830200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
4	chr11:58830000-58830200	Bivalent Enhancer	Primary B cells from cord blood	blood
5	chr11:58830000-58830200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:58830000-58830200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:58830000-58830200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr11:58830000-58830400	Bivalent Enhancer	NHEK	skin
9	chr11:58830000-58830600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:58830000-58830600	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr11:58830000-58830600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:58830000-58830600	Enhancers	Pancreas	Pancrea
13	chr11:58830200-58830400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:58830200-58830400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr11:58830200-58830400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:58830200-58830400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:58830200-58830400	Bivalent Enhancer	Liver	Liver
18	chr11:58830200-58830400	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr11:58830200-58830600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:58830200-58830600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:58830200-58830600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
22	chr11:58830200-58830600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
23	chr11:58830200-58830800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr11:58830400-58830600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:58830400-58830600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr11:58830400-58830600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:58830400-58830600	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr11:58830400-58830800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:58830600-58830800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr11:58830600-58830800	Bivalent Enhancer	Fetal Brain Male	brain
31	chr11:58830600-58830800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
32	chr11:58830600-58830800	Bivalent Enhancer	Right Ventricle	heart
33	chr11:58830600-58831400	Enhancers	GM12878-XiMat	blood
34	chr11:58831000-58831200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:58831000-58831400	Bivalent/Poised TSS	HUVEC	blood vessel
36	chr11:58831200-58831400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:58831200-58831400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
38	chr11:58831400-58831800	Flanking Active TSS	GM12878-XiMat	blood
39	chr11:58831800-58832000	Enhancers	GM12878-XiMat	blood
40	chr11:58832000-58832400	Flanking Active TSS	GM12878-XiMat	blood
41	chr11:58832400-58833400	Enhancers	GM12878-XiMat	blood
42	chr11:58836200-58837200	Enhancers	NHEK	skin
43	chr11:58836200-58837600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:58836800-58837200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:58843400-58849200	Enhancers	Primary B cells from peripheral blood	blood
46	chr11:58843600-58844200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:58844000-58845000	Enhancers	Primary B cells from cord blood	blood
48	chr11:58844200-58844800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:58844200-58845600	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:58844200-58846000	Enhancers	GM12878-XiMat	blood

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