Variant report

Variant	nsv832167
Chromosome Location	chr11:57912509-57948750
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	ARID3A	chr11:57932975-57933388	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:57932759-57933412	HepG2	liver:	n/a	chr11:57933335-57933346
3	CEBPB	chr11:57933079-57933336	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:57918759-57919029	HepG2	liver:	n/a	chr11:57918888-57918899
5	CEBPB	chr11:57933268-57933270	IMR90	lung:	n/a	n/a
6	CEBPB	chr11:57933895-57934195	HepG2	liver:	n/a	chr11:57934032-57934043
7	CEBPB	chr11:57941813-57942112	HepG2	liver:	n/a	chr11:57941976-57941987
8	CEBPB	chr11:57932980-57933384	HepG2	liver:	n/a	chr11:57933335-57933346
9	CEBPB	chr11:57932970-57933434	HepG2	liver:	n/a	chr11:57933335-57933346
10	CEBPB	chr11:57918787-57919016	A549	lung:	n/a	chr11:57918888-57918899
11	CEBPB	chr11:57941847-57942073	A549	lung:	n/a	chr11:57941976-57941987
12	CEBPB	chr11:57948145-57948399	HepG2	liver:	n/a	n/a
13	CEBPB	chr11:57934976-57935084	HepG2	liver:	n/a	chr11:57935022-57935033
14	CEBPB	chr11:57933976-57934113	A549	lung:	n/a	chr11:57934032-57934043
15	CTCF	chr11:57926800-57926950	HMEC	breast:	n/a	n/a
16	CTCF	chr11:57926740-57926890	RPTEC	kidney:	n/a	n/a
17	CTCF	chr11:57926860-57927010	GM12873	blood:	n/a	n/a
18	CTCF	chr11:57934260-57934410	NHLF	lung:	n/a	n/a
19	CTCF	chr11:57926800-57926950	AG04450	lung:	n/a	n/a
20	CTCF	chr11:57926720-57926870	RPTEC	kidney:	n/a	n/a
21	CTCF	chr11:57926890-57926936	IMR90	lung:	n/a	n/a
22	CTCF	chr11:57926760-57926910	BJ	skin:	n/a	n/a
23	CTCF	chr11:57926780-57926930	NB4	blood:	n/a	n/a
24	E2F4	chr11:57933102-57933455	MCF10A-Er-Src	breast:	n/a	chr11:57933269-57933276 chr11:57933268-57933280 chr11:57933269-57933276 chr11:57933269-57933276
25	EBF1	chr11:57925488-57925727	GM12878	blood:	n/a	chr11:57925540-57925551
26	EP300	chr11:57932954-57933375	HepG2	liver:	n/a	n/a
27	EP300	chr11:57932635-57933563	HepG2	liver:	n/a	n/a
28	EP300	chr11:57932806-57933451	HepG2	liver:	n/a	n/a
29	FOS	chr11:57933893-57934241	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr11:57933081-57933396	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr11:57933031-57933429	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr11:57931218-57931362	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr11:57933214-57933275	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr11:57933932-57934223	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr11:57933902-57934233	MCF10A-Er-Src	breast:	n/a	n/a
36	FOXA1	chr11:57918825-57919289	HepG2	liver:	n/a	chr11:57919109-57919124 chr11:57919151-57919166
37	FOXA1	chr11:57932844-57933598	HepG2	liver:	n/a	n/a
38	FOXA1	chr11:57932796-57933598	HepG2	liver:	n/a	n/a
39	FOXA1	chr11:57932757-57933547	HepG2	liver:	n/a	n/a
40	FOXA1	chr11:57932794-57933556	HepG2	liver:	n/a	n/a
41	FOXA1	chr11:57918985-57919234	T-47D	breast:	n/a	chr11:57919109-57919124 chr11:57919151-57919166
42	FOXA1	chr11:57918882-57919282	HepG2	liver:	n/a	chr11:57919109-57919124 chr11:57919151-57919166
43	FOXA1	chr11:57918885-57919302	HepG2	liver:	n/a	chr11:57919109-57919124 chr11:57919151-57919166
44	FOXA1	chr11:57918942-57919277	HepG2	liver:	n/a	chr11:57919109-57919124 chr11:57919151-57919166
45	FOXA2	chr11:57932498-57933595	HepG2	liver:	n/a	n/a
46	FOXA2	chr11:57932769-57933536	HepG2	liver:	n/a	n/a
47	FOXA2	chr11:57918922-57919242	HepG2	liver:	n/a	n/a
48	GATA3	chr11:57945949-57946065	SH-SY5Y	brain:	n/a	n/a
49	HDAC2	chr11:57932844-57933554	HepG2	liver:	n/a	n/a
50	HDAC2	chr11:57932747-57933447	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57947030-57947080	PANC-1	pancreas:	n/a
2	chr11:57945730-57945780	HMEC	breast:	n/a
3	chr11:57946199-57946249	PFSK-1	brain:	n/a
4	chr11:57948705-57948755	NHDF-neo	bronchial:	n/a
5	chr11:57946199-57946249	AG09319	gingival:	n/a
6	chr11:57948705-57948755	AG09309	skin:	n/a
7	chr11:57948705-57948755	HepG2	liver:	n/a
8	chr11:57946199-57946249	GM19239	blood:	n/a
9	chr11:57948705-57948755	SAEC	small airway:	n/a
10	chr11:57948705-57948755	K562	blood:	n/a
11	chr11:57947030-57947080	GM06990	blood:	n/a
12	chr11:57948705-57948755	Hepatocyte	liver:	n/a
13	chr11:57945730-57945780	HCM	heart:	n/a
14	chr11:57947030-57947080	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:57947030-57947080	PFSK-1	brain:	n/a
16	chr11:57945730-57945780	HRE	kidney:	n/a
17	chr11:57948705-57948755	PANC-1	pancreas:	n/a
18	chr11:57945730-57945780	HL-60	blood:	n/a
19	chr11:57947030-57947080	H1-hESC	embryonic stem cell:	embryo
20	chr11:57945730-57945780	SKMC	muscle:	n/a
21	chr11:57948705-57948755	AG09319	gingival:	n/a
22	chr11:57945730-57945780	HEEpiC	esophagus:	n/a
23	chr11:57947030-57947080	HIPEpiC	eye:	n/a
24	chr11:57947030-57947080	NH-A	brain:	n/a
25	chr11:57945730-57945780	SK-N-SH_RA	brain:	n/a
26	chr11:57945730-57945780	BE2_C	brain:	n/a
27	chr11:57945730-57945780	PrEC	prostate:	n/a
28	chr11:57946199-57946249	U87	brain:	n/a
29	chr11:57947030-57947080	AG04450	lung:	fetal
30	chr11:57945730-57945780	GM06990	blood:	n/a
31	chr11:57948705-57948755	HCT-116	colon:	n/a
32	chr11:57945730-57945780	GM12891	blood:	n/a
33	chr11:57945730-57945780	AoSMC	blood vessel:	n/a
34	chr11:57947030-57947080	Hela-S3	cervix:	n/a
35	chr11:57945730-57945780	IMR90	lung:	fetal
36	chr11:57946199-57946249	AG09309	skin:	n/a
37	chr11:57947030-57947080	AG09319	gingival:	n/a
38	chr11:57946199-57946249	HRPEpiC	eye:	n/a
39	chr11:57946199-57946249	HIPEpiC	eye:	n/a
40	chr11:57948705-57948755	ProgFib	skin:	n/a
41	chr11:57945730-57945780	SK-N-MC	brain:	n/a
42	chr11:57947030-57947080	HEEpiC	esophagus:	n/a
43	chr11:57945730-57945780	HRCEpiC	kidney:	n/a
44	chr11:57946199-57946249	PANC-1	pancreas:	n/a
45	chr11:57947030-57947080	NHDF-neo	bronchial:	n/a
46	chr11:57945730-57945780	HIPEpiC	eye:	n/a
47	chr11:57945730-57945780	LNCaP	prostate:	n/a
48	chr11:57948705-57948755	NB4	blood:	n/a
49	chr11:57947030-57947080	Caco-2	colon:	n/a
50	chr11:57948705-57948755	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57933220..57935191-chr11:57939017..57941040,2	K562	blood:
2	chr11:57933220..57935191-chr11:57939017..57941040,2	K562	blood:

Variant related genes	Relation type
OR5BL1P	TF binding region
OR5BL1P	CpG island

Extended variants
information (count: 653 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117883379	chr11:57912522-57912523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538691842	chr11:57912535-57912536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35546731	chr11:57912538-57912539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117339351	chr11:57912600-57912601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569404458	chr11:57912603-57912604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2443433	chr11:57912625-57912626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7945154	chr11:57912638-57912639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575378741	chr11:57912644-57912645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2441983	chr11:57912650-57912651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2245676	chr11:57912693-57912694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs532655543	chr11:57912699-57912700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369686698	chr11:57912746-57912747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12577581	chr11:57912766-57912767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182746112	chr11:57912775-57912776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548627037	chr11:57912780-57912781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534194346	chr11:57912815-57912816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146109880	chr11:57912824-57912825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531049371	chr11:57912842-57912843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7949119	chr11:57912906-57912907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570167655	chr11:57912911-57912912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534435042	chr11:57912915-57912916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546543302	chr11:57912933-57912934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187030129	chr11:57912954-57912955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535718582	chr11:57912955-57912956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557021033	chr11:57912966-57912967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575387639	chr11:57912970-57912971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539604179	chr11:57912989-57912990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189999488	chr11:57912996-57912997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558004330	chr11:57913013-57913014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182263268	chr11:57913027-57913028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140184066	chr11:57913029-57913030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559677583	chr11:57913038-57913039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376998287	chr11:57913079-57913080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142217108	chr11:57913098-57913099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7948507	chr11:57913108-57913109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563786396	chr11:57913111-57913112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187813125	chr11:57913168-57913169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546105829	chr11:57913191-57913192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568057551	chr11:57913200-57913201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531115197	chr11:57913216-57913217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562713098	chr11:57913254-57913255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7949558	chr11:57913286-57913287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77174036	chr11:57913318-57913319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs58751000	chr11:57913324-57913325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546407484	chr11:57913470-57913471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568045407	chr11:57913538-57913539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535146471	chr11:57913566-57913567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193129995	chr11:57913567-57913568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569143803	chr11:57913570-57913571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185667238	chr11:57913631-57913632	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57911200-57912800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:57912800-57913000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:57912800-57913800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:57919000-57919400	Enhancers	HepG2	liver
5	chr11:57920200-57920600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr11:57921200-57922000	Enhancers	Fetal Intestine Small	intestine
7	chr11:57921600-57921800	Enhancers	Duodenum Mucosa	Duodenum
8	chr11:57922400-57922600	Enhancers	Duodenum Mucosa	Duodenum
9	chr11:57930200-57933600	Enhancers	Fetal Intestine Small	intestine
10	chr11:57930800-57931000	Enhancers	Small Intestine	intestine
11	chr11:57930800-57933200	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:57930800-57935400	Enhancers	HepG2	liver
13	chr11:57931000-57931400	Enhancers	Brain Germinal Matrix	brain
14	chr11:57931000-57932200	Enhancers	Pancreas	Pancrea
15	chr11:57931000-57932600	Weak transcription	Small Intestine	intestine
16	chr11:57931000-57934400	Enhancers	Fetal Intestine Large	intestine
17	chr11:57931200-57931600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:57931400-57932200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:57931400-57932600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:57931600-57932400	Enhancers	Esophagus	oesophagus
21	chr11:57931800-57932600	Enhancers	Stomach Mucosa	stomach
22	chr11:57932000-57933400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr11:57932600-57934200	Enhancers	Small Intestine	intestine
24	chr11:57934400-57939200	Weak transcription	Fetal Intestine Large	intestine
25	chr11:57938800-57939200	Enhancers	Pancreas	Pancrea
26	chr11:57938800-57939400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:57939200-57939800	Enhancers	Fetal Intestine Large	intestine
28	chr11:57941200-57942000	Enhancers	HepG2	liver
29	chr11:57942800-57943600	Enhancers	Brain Germinal Matrix	brain
30	chr11:57943000-57943800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:57944000-57944400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:57945800-57946200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr11:57947000-57947600	Enhancers	HepG2	liver
34	chr11:57947200-57947400	Enhancers	Pancreas	Pancrea
35	chr11:57947400-57947600	Weak transcription	Pancreas	Pancrea
36	chr11:57947600-57952400	Weak transcription	HepG2	liver

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