Variant report

Variant	esv3369556
Chromosome Location	chr11:93346204-93348252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:93346614-93346942	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:93346833-93346836	K562	blood:	n/a	n/a
3	ARID3A	chr11:93347293-93347963	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:93347699-93347910	K562	blood:	n/a	n/a
5	BACH1	chr11:93347641-93347890	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr11:93347544-93347976	K562	blood:	n/a	n/a
7	CEBPB	chr11:93347594-93347964	HepG2	liver:	n/a	n/a
8	CHD2	chr11:93347755-93347904	HepG2	liver:	n/a	n/a
9	CTCF	chr11:93347628-93347993	HepG2	liver:	n/a	n/a
10	CTCF	chr11:93347760-93347910	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr11:93347754-93347828	GM19240	blood:	n/a	n/a
12	CTCF	chr11:93347780-93347930	AG09309	skin:	n/a	n/a
13	CTCF	chr11:93347711-93347843	NHEK	skin:	n/a	n/a
14	CTCF	chr11:93347820-93347970	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr11:93347720-93347990	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr11:93347740-93347890	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr11:93347720-93347870	BE2_C	brain:	n/a	n/a
18	CTCF	chr11:93347700-93347850	GM12868	blood:	n/a	n/a
19	CTCF	chr11:93347728-93347820	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr11:93347660-93347810	GM12864	blood:	n/a	n/a
21	CTCF	chr11:93347760-93347910	K562	blood:	n/a	n/a
22	CTCF	chr11:93347720-93347870	BJ	skin:	n/a	n/a
23	CTCF	chr11:93347680-93347830	GM12878	blood:	n/a	n/a
24	CTCF	chr11:93347707-93347869	GM12878	blood:	n/a	n/a
25	CTCF	chr11:93347560-93347710	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr11:93347757-93347827	LNCaP	prostate:	n/a	n/a
27	CTCF	chr11:93347560-93347850	WI-38	lung:	n/a	n/a
28	CTCF	chr11:93347580-93347730	HVMF	connective:	n/a	n/a
29	CTCF	chr11:93347460-93347610	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr11:93347660-93347810	AG10803	skin:	n/a	n/a
31	CTCF	chr11:93347736-93347827	GM10248	blood:	n/a	n/a
32	CTCF	chr11:93347680-93347830	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr11:93347760-93347910	HCM	heart:	n/a	n/a
34	CTCF	chr11:93347740-93347890	K562	blood:	n/a	n/a
35	CTCF	chr11:93347700-93347850	HAc	cerebellar:	n/a	n/a
36	CTCF	chr11:93347740-93347890	GM12864	blood:	n/a	n/a
37	CTCF	chr11:93347720-93347870	NHLF	lung:	n/a	n/a
38	CTCF	chr11:93347680-93347830	AG04449	skin:	n/a	n/a
39	CTCF	chr11:93347660-93347810	AG09319	gingival:	n/a	n/a
40	CTCF	chr11:93347728-93347841	MCF-7	breast:	n/a	n/a
41	CTCF	chr11:93347555-93347950	K562	blood:	n/a	n/a
42	CTCF	chr11:93347740-93347890	GM12873	blood:	n/a	n/a
43	CTCF	chr11:93347740-93347890	MCF-7	breast:	n/a	n/a
44	CTCF	chr11:93347780-93347930	GM12868	blood:	n/a	n/a
45	CTCF	chr11:93347702-93347885	A549	lung:	n/a	n/a
46	CTCF	chr11:93347660-93347810	RPTEC	kidney:	n/a	n/a
47	CTCF	chr11:93347720-93347870	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr11:93347705-93347892	HepG2	liver:	n/a	n/a
49	CTCF	chr11:93347780-93347930	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr11:93347720-93347870	HEK293	kidney:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000255515	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570772853	chr11:93346233-93346234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192079344	chr11:93346286-93346287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370396663	chr11:93346354-93346355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374740796	chr11:93346374-93346375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563296532	chr11:93346379-93346380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530779746	chr11:93346405-93346406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549016877	chr11:93346422-93346423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561127528	chr11:93346454-93346455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372164126	chr11:93346482-93346483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1954783	chr11:93346486-93346487	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs113442960	chr11:93346577-93346578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149505047	chr11:93346578-93346579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143984048	chr11:93346587-93346588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35498772	chr11:93346653-93346654	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs550530612	chr11:93346685-93346686	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs565484006	chr11:93346742-93346743	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs7123348	chr11:93346743-93346744	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536504547	chr11:93346782-93346783	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs554500539	chr11:93346827-93346828	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138432909	chr11:93346832-93346833	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200143524	chr11:93346847-93346848	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200862753	chr11:93346848-93346849	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs202058582	chr11:93346851-93346852	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201082904	chr11:93346854-93346855	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs543293349	chr11:93346856-93346857	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201231884	chr11:93346880-93346881	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs534156819	chr11:93346885-93346886	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs149854623	chr11:93346889-93346890	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs12146696	chr11:93346895-93346896	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs9737265	chr11:93346904-93346905	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs57014027	chr11:93346918-93346919	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs61918528	chr11:93346919-93346920	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs202016460	chr11:93346925-93346926	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs9734462	chr11:93346937-93346938	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs534006125	chr11:93346958-93346959	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs556957132	chr11:93346974-93346975	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs140191395	chr11:93347009-93347010	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs575351367	chr11:93347035-93347036	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs182780964	chr11:93347058-93347059	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200242919	chr11:93347086-93347087	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs143866961	chr11:93347134-93347135	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs146873402	chr11:93347188-93347189	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200106102	chr11:93347209-93347210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540020812	chr11:93347214-93347215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564757799	chr11:93347216-93347217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200524432	chr11:93347226-93347227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112448454	chr11:93347237-93347238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149152659	chr11:93347257-93347258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146411887	chr11:93347269-93347270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188294922	chr11:93347287-93347288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93342800-93346800	Enhancers	Fetal Intestine Large	intestine
2	chr11:93343200-93346600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr11:93343200-93346600	Enhancers	Stomach Mucosa	stomach
4	chr11:93344200-93346800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:93344400-93346600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr11:93344400-93347600	Enhancers	Fetal Intestine Small	intestine
7	chr11:93344600-93346400	Weak transcription	Small Intestine	intestine
8	chr11:93344800-93347400	Weak transcription	Gastric	stomach
9	chr11:93345000-93346800	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:93346400-93346600	Enhancers	Small Intestine	intestine
11	chr11:93346800-93347200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:93346800-93347600	Weak transcription	Fetal Intestine Large	intestine
13	chr11:93347200-93348200	Enhancers	Duodenum Mucosa	Duodenum
14	chr11:93347400-93347600	Enhancers	Gastric	stomach
15	chr11:93347600-93347800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:93347600-93347800	Enhancers	Fetal Intestine Large	intestine
17	chr11:93347600-93348000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr11:93347600-93348400	Enhancers	HepG2	liver
19	chr11:93348000-93357800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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