Variant report

Variant	esv3358074
Chromosome Location	chr11:71230804-71235902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:123)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:71233426-71233787	GM12878	blood:	n/a	n/a
2	BCL11A	chr11:71232888-71233579	GM12878	blood:	n/a	n/a
3	BCL11A	chr11:71233291-71233530	GM12878	blood:	n/a	n/a
4	CTCF	chr11:71233740-71233809	GM13976	blood:	n/a	n/a
5	CTCF	chr11:71233127-71233186	GM13977	blood:	n/a	n/a
6	CTCF	chr11:71232822-71232943	LNCaP	prostate:	n/a	n/a
7	CTCF	chr11:71233176-71233259	GM13976	blood:	n/a	n/a
8	FOSL2	chr11:71232698-71233663	HepG2	liver:	n/a	n/a
9	GABPA	chr11:71232986-71234062	Hela-S3	cervix:	n/a	n/a
10	HEY1	chr11:71232805-71233033	K562	blood:	n/a	n/a
11	IRF4	chr11:71232168-71234073	GM12878	blood:	n/a	n/a
12	IRF4	chr11:71232681-71233026	GM12878	blood:	n/a	n/a
13	IRF4	chr11:71233305-71233895	GM12878	blood:	n/a	n/a
14	JUND	chr11:71233271-71233874	HepG2	liver:	n/a	n/a
15	MYC	chr11:71233754-71233813	HUVEC	blood vessel:	n/a	n/a
16	MYC	chr11:71233815-71233853	HUVEC	blood vessel:	n/a	n/a
17	NR3C1	chr11:71232404-71234051	A549	lung:	n/a	n/a
18	PAX5	chr11:71233439-71233768	GM12878	blood:	n/a	n/a
19	PAX5	chr11:71232154-71232592	GM12878	blood:	n/a	n/a
20	PAX5	chr11:71232230-71232575	GM12878	blood:	n/a	n/a
21	PAX5	chr11:71233367-71233845	GM12878	blood:	n/a	n/a
22	PAX5	chr11:71232184-71234108	GM12878	blood:	n/a	n/a
23	PBX3	chr11:71233514-71233841	GM12878	blood:	n/a	n/a
24	PBX3	chr11:71233384-71233498	GM12878	blood:	n/a	n/a
25	PBX3	chr11:71232790-71233997	GM12878	blood:	n/a	n/a
26	PBX3	chr11:71233882-71234014	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:71233421-71233984	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:71232735-71233991	GM12892	blood:	n/a	n/a
29	POU2F2	chr11:71233669-71233794	GM12878	blood:	n/a	n/a
30	POU2F2	chr11:71233138-71233944	GM12878	blood:	n/a	n/a
31	REST	chr11:71233305-71234023	PANC-1	pancreas:	n/a	n/a
32	REST	chr11:71233465-71233786	GM12878	blood:	n/a	n/a
33	RXRA	chr11:71233403-71233887	HepG2	liver:	n/a	n/a
34	SIN3AK20	chr11:71233637-71233906	HepG2	liver:	n/a	n/a
35	SIX5	chr11:71233278-71233680	K562	blood:	n/a	n/a
36	SIX5	chr11:71233403-71233927	K562	blood:	n/a	n/a
37	SP1	chr11:71233304-71233879	GM12878	blood:	n/a	n/a
38	TBL1XR1	chr11:71231824-71231825	K562	blood:	n/a	n/a
39	TCF3	chr11:71232812-71234076	GM12878	blood:	n/a	n/a
40	ZBTB33	chr11:71232300-71232697	GM12878	blood:	n/a	n/a
41	ZBTB33	chr11:71233491-71233856	HepG2	liver:	n/a	n/a
42	ZBTB33	chr11:71232711-71234051	GM12878	blood:	n/a	n/a
43	ZBTB33	chr11:71232709-71233611	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71235111-71235161	GM06990	blood:	n/a
2	chr11:71235111-71235161	GM06990	blood:	n/a
3	chr11:71235111-71235161	K562	blood:	n/a
4	chr11:71233011-71233061	AoSMC	blood vessel:	n/a
5	chr11:71235111-71235161	Hela-S3	cervix:	n/a
6	chr11:71233011-71233061	HEEpiC	esophagus:	n/a
7	chr11:71235111-71235161	SK-N-SH	brain:	n/a
8	chr11:71235111-71235161	MCF-7	breast:	n/a
9	chr11:71233011-71233061	SK-N-SH_RA	brain:	n/a
10	chr11:71233011-71233061	HL-60	blood:	n/a
11	chr11:71233011-71233061	HRPEpiC	eye:	n/a
12	chr11:71235111-71235161	HCT-116	colon:	n/a
13	chr11:71233011-71233061	ECC-1	luminal epithelium:	n/a
14	chr11:71233011-71233061	HCT-116	colon:	n/a
15	chr11:71235111-71235161	NT2-D1	testis:	n/a
16	chr11:71235111-71235161	ovcar-3	ovarian:	n/a
17	chr11:71235111-71235161	NB4	blood:	n/a
18	chr11:71235111-71235161	HIPEpiC	eye:	n/a
19	chr11:71235111-71235161	HepG2	liver:	n/a
20	chr11:71233011-71233061	HAEpiC	amniotic membrane:	n/a
21	chr11:71235111-71235161	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:71233011-71233061	GM19239	blood:	n/a
23	chr11:71235111-71235161	AG09319	gingival:	n/a
24	chr11:71235111-71235161	RPTEC	kidney:	n/a
25	chr11:71235111-71235161	AG04450	lung:	fetal
26	chr11:71233011-71233061	LNCaP	prostate:	n/a
27	chr11:71235111-71235161	A549	lung:	n/a
28	chr11:71235111-71235161	HUVEC	blood vessel:	n/a
29	chr11:71233011-71233061	HIPEpiC	eye:	n/a
30	chr11:71235111-71235161	CMK	blood:	n/a
31	chr11:71233011-71233061	HEK293	kidney:	embryo
32	chr11:71235111-71235161	HCPEpiC	choroid plexus:	n/a
33	chr11:71233011-71233061	ProgFib	skin:	n/a
34	chr11:71233011-71233061	HCPEpiC	choroid plexus:	n/a
35	chr11:71233011-71233061	HNPCEpiC	eye:	n/a
36	chr11:71233011-71233061	SK-N-MC	brain:	n/a
37	chr11:71233011-71233061	Hela-S3	cervix:	n/a
38	chr11:71233011-71233061	Jurkat	blood:	n/a
39	chr11:71235111-71235161	NH-A	brain:	n/a
40	chr11:71233011-71233061	SK-N-SH	brain:	n/a
41	chr11:71233011-71233061	T-47D	breast:	n/a
42	chr11:71235111-71235161	HNPCEpiC	eye:	n/a
43	chr11:71235111-71235161	ProgFib	skin:	n/a
44	chr11:71235111-71235161	AoSMC	blood vessel:	n/a
45	chr11:71235111-71235161	PANC-1	pancreas:	n/a
46	chr11:71235111-71235161	HRE	kidney:	n/a
47	chr11:71233011-71233061	RPTEC	kidney:	n/a
48	chr11:71233011-71233061	PANC-1	pancreas:	n/a
49	chr11:71235111-71235161	HRPEpiC	eye:	n/a
50	chr11:71235111-71235161	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71192889..71195578-chr11:71229380..71232124,2	MCF-7	breast:
2	chr11:71230161..71233081-chr11:71237007..71238796,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRTAP5-7	TF binding region
KRTAP5-7	CpG island
ENSG00000244411	chromatin interactions
ENSG00000172890	chromatin interactions

Extended variants
information (count: 273 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528268657	chr11:71230815-71230816	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540373331	chr11:71230906-71230907	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376415580	chr11:71230943-71230944	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533440074	chr11:71230946-71230947	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs541271928	chr11:71230966-71230967	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551829111	chr11:71231001-71231002	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs145115299	chr11:71231009-71231010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs531274287	chr11:71231039-71231040	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs143925724	chr11:71231046-71231047	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148643519	chr11:71231068-71231069	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs57718633	chr11:71231079-71231080	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs577539425	chr11:71231099-71231100	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142036801	chr11:71231100-71231101	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs183769584	chr11:71231119-71231120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7118246	chr11:71231124-71231125	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs574882673	chr11:71231135-71231136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs563553613	chr11:71231146-71231147	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs115031128	chr11:71231172-71231173	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530887144	chr11:71231190-71231191	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554567919	chr11:71231195-71231196	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113534326	chr11:71231198-71231199	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs540079416	chr11:71231232-71231233	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11234008	chr11:71231233-71231234	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs11234009	chr11:71231272-71231273	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545511281	chr11:71231273-71231274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564846591	chr11:71231289-71231290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563721242	chr11:71231299-71231300	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs530932032	chr11:71231422-71231423	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs528737998	chr11:71231523-71231524	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs7119640	chr11:71231537-71231538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs561439547	chr11:71231538-71231539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs61885945	chr11:71231543-71231544	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs151146002	chr11:71231556-71231557	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs571795270	chr11:71231573-71231574	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs538385913	chr11:71231594-71231595	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs368212744	chr11:71231613-71231614	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550256138	chr11:71231614-71231615	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs79162965	chr11:71231627-71231628	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140711862	chr11:71231678-71231679	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs144559284	chr11:71231681-71231682	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573085953	chr11:71231687-71231688	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs567459286	chr11:71231692-71231693	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs192654912	chr11:71231742-71231743	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558514068	chr11:71231771-71231772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs182283837	chr11:71231805-71231806	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs186605904	chr11:71231807-71231808	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56012338	chr11:71231812-71231813	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373734590	chr11:71231840-71231841	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs114285062	chr11:71231867-71231868	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192737635	chr11:71231908-71231909	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71211800-71232400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:71213200-71232200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:71215600-71236600	Weak transcription	Brain Anterior Caudate	brain
4	chr11:71216400-71235400	Weak transcription	Brain Substantia Nigra	brain
5	chr11:71228000-71232200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:71229600-71232200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:71230000-71232200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:71230200-71231600	Enhancers	Fetal Muscle Leg	muscle
9	chr11:71230400-71231400	Enhancers	Fetal Muscle Trunk	muscle
10	chr11:71230400-71231400	Enhancers	HSMM	muscle
11	chr11:71230400-71231400	Enhancers	HSMMtube	muscle
12	chr11:71230400-71232200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:71230400-71235800	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:71230800-71233600	Weak transcription	Adipose Nuclei	Adipose
15	chr11:71232200-71232800	Strong transcription	Brain Angular Gyrus	brain
16	chr11:71232200-71232800	Strong transcription	Brain Cingulate Gyrus	brain
17	chr11:71232200-71232800	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr11:71232200-71232800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:71232200-71233000	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:71232400-71232800	ZNF genes & repeats	Pancreas	Pancrea
21	chr11:71232400-71232800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
22	chr11:71232800-71233200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:71232800-71236400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:71232800-71236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:71232800-71243600	Weak transcription	Brain Angular Gyrus	brain
26	chr11:71232800-71245800	Weak transcription	Pancreas	Pancrea
27	chr11:71232800-71259800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:71233000-71235600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:71235800-71238000	Enhancers	HepG2	liver

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