Variant report

Variant	esv3454675
Chromosome Location	chr11:71231854-71234652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 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	chr11:71233176-71233259	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	chr11:71233740-71233809	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	chr11:71232681-71233026	GM12878	blood:	n/a	n/a
12	IRF4	chr11:71232168-71234073	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	chr11:71232184-71234108	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	chr11:71232154-71232592	GM12878	blood:	n/a	n/a
23	PBX3	chr11:71232790-71233997	GM12878	blood:	n/a	n/a
24	PBX3	chr11:71233384-71233498	GM12878	blood:	n/a	n/a
25	PBX3	chr11:71233514-71233841	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	chr11:71233465-71233786	GM12878	blood:	n/a	n/a
32	REST	chr11:71233305-71234023	PANC-1	pancreas:	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	chr11:71233403-71233927	K562	blood:	n/a	n/a
36	SIX5	chr11:71233278-71233680	K562	blood:	n/a	n/a
37	SP1	chr11:71233304-71233879	GM12878	blood:	n/a	n/a
38	TCF3	chr11:71232812-71234076	GM12878	blood:	n/a	n/a
39	ZBTB33	chr11:71232711-71234051	GM12878	blood:	n/a	n/a
40	ZBTB33	chr11:71232300-71232697	GM12878	blood:	n/a	n/a
41	ZBTB33	chr11:71232709-71233611	GM12878	blood:	n/a	n/a
42	ZBTB33	chr11:71233491-71233856	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71233011-71233061	HRCEpiC	kidney:	n/a
2	chr11:71233011-71233061	Hepatocyte	liver:	n/a
3	chr11:71233011-71233061	NT2-D1	testis:	n/a
4	chr11:71233011-71233061	AG09309	skin:	n/a
5	chr11:71233011-71233061	BE2_C	brain:	n/a
6	chr11:71233011-71233061	H1-hESC	embryonic stem cell:	embryo
7	chr11:71233011-71233061	T-47D	breast:	n/a
8	chr11:71233011-71233061	HMEC	breast:	n/a
9	chr11:71233011-71233061	HRPEpiC	eye:	n/a
10	chr11:71233011-71233061	NHBE	bronchial:	n/a
11	chr11:71233011-71233061	HEEpiC	esophagus:	n/a
12	chr11:71233011-71233061	NB4	blood:	n/a
13	chr11:71233011-71233061	HCF	heart:	n/a
14	chr11:71233011-71233061	PrEC	prostate:	n/a
15	chr11:71233011-71233061	ECC-1	luminal epithelium:	n/a
16	chr11:71233011-71233061	HIPEpiC	eye:	n/a
17	chr11:71233011-71233061	PFSK-1	brain:	n/a
18	chr11:71233011-71233061	LNCaP	prostate:	n/a
19	chr11:71233011-71233061	SAEC	small airway:	n/a
20	chr11:71233011-71233061	Hela-S3	cervix:	n/a
21	chr11:71233011-71233061	HEK293	kidney:	embryo
22	chr11:71233011-71233061	AG09319	gingival:	n/a
23	chr11:71233011-71233061	GM06990	blood:	n/a
24	chr11:71233011-71233061	NHDF-neo	bronchial:	n/a
25	chr11:71233011-71233061	AG04449	skin:	fetal
26	chr11:71233011-71233061	GM12878	blood:	n/a
27	chr11:71233011-71233061	MCF10A-Er-Src	breast:	n/a
28	chr11:71233011-71233061	U87	brain:	n/a
29	chr11:71233011-71233061	HNPCEpiC	eye:	n/a
30	chr11:71233011-71233061	SK-N-SH_RA	brain:	n/a
31	chr11:71233011-71233061	AG04450	lung:	fetal
32	chr11:71233011-71233061	GM12892	blood:	n/a
33	chr11:71233011-71233061	CMK	blood:	n/a
34	chr11:71233011-71233061	PANC-1	pancreas:	n/a
35	chr11:71233011-71233061	HL-60	blood:	n/a
36	chr11:71233011-71233061	AG10803	skin:	n/a
37	chr11:71233011-71233061	K562	blood:	n/a
38	chr11:71233011-71233061	HAEpiC	amniotic membrane:	n/a
39	chr11:71233011-71233061	SK-N-SH	brain:	n/a
40	chr11:71233011-71233061	ProgFib	skin:	n/a
41	chr11:71233011-71233061	HUVEC	blood vessel:	n/a
42	chr11:71233011-71233061	GM12891	blood:	n/a
43	chr11:71233011-71233061	Jurkat	blood:	n/a
44	chr11:71233011-71233061	HepG2	liver:	n/a
45	chr11:71233011-71233061	MCF-7	breast:	n/a
46	chr11:71233011-71233061	ovcar-3	ovarian:	n/a
47	chr11:71233011-71233061	HCT-116	colon:	n/a
48	chr11:71233011-71233061	HCM	heart:	n/a
49	chr11:71233011-71233061	A549	lung:	n/a
50	chr11:71233011-71233061	HRE	kidney:	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
ENSG00000172890	chromatin interactions
ENSG00000244411	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114285062	chr11:71231867-71231868	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs192737635	chr11:71231908-71231909	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528028580	chr11:71231943-71231944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568280731	chr11:71231989-71231990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184614308	chr11:71232014-71232015	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs528816839	chr11:71232046-71232047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs79254189	chr11:71232075-71232076	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547261993	chr11:71232092-71232093	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146601769	chr11:71232113-71232114	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532567444	chr11:71232141-71232142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529763285	chr11:71232167-71232168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550718591	chr11:71232177-71232178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141369041	chr11:71232204-71232205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115345840	chr11:71232231-71232232	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145118156	chr11:71232242-71232243	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548222891	chr11:71232259-71232260	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533890671	chr11:71232303-71232304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558819628	chr11:71232304-71232305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200277494	chr11:71232331-71232332	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143650237	chr11:71232354-71232355	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538055204	chr11:71232360-71232361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189935298	chr11:71232379-71232380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575836229	chr11:71232392-71232393	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569562579	chr11:71232398-71232399	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192860375	chr11:71232425-71232426	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554706183	chr11:71232433-71232434	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573185328	chr11:71232434-71232435	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377344108	chr11:71232455-71232456	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565245458	chr11:71232498-71232499	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532629774	chr11:71232501-71232502	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544421348	chr11:71232518-71232519	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs59669962	chr11:71232523-71232524	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562729640	chr11:71232540-71232541	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529793740	chr11:71232546-71232547	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548267028	chr11:71232569-71232570	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375812114	chr11:71232581-71232582	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185438325	chr11:71232585-71232586	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552168671	chr11:71232598-71232599	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570781840	chr11:71232606-71232607	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538116465	chr11:71232634-71232635	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375556905	chr11:71232636-71232637	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568251305	chr11:71232641-71232642	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs116383222	chr11:71232642-71232643	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555047347	chr11:71232664-71232665	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573213364	chr11:71232666-71232667	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs4945012	chr11:71232676-71232677	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189297085	chr11:71232693-71232694	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112613169	chr11:71232706-71232707	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544496181	chr11:71232711-71232712	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201086450	chr11:71232730-71232731	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 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:24 , 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	chr11:71230400-71232200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:71230400-71235800	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:71230800-71233600	Weak transcription	Adipose Nuclei	Adipose
11	chr11:71232200-71232800	Strong transcription	Brain Angular Gyrus	brain
12	chr11:71232200-71232800	Strong transcription	Brain Cingulate Gyrus	brain
13	chr11:71232200-71232800	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr11:71232200-71232800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:71232200-71233000	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:71232400-71232800	ZNF genes & repeats	Pancreas	Pancrea
17	chr11:71232400-71232800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
18	chr11:71232800-71233200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:71232800-71236400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:71232800-71236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:71232800-71243600	Weak transcription	Brain Angular Gyrus	brain
22	chr11:71232800-71245800	Weak transcription	Pancreas	Pancrea
23	chr11:71232800-71259800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:71233000-71235600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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