Variant report

Variant	nsv467690
Chromosome Location	chr11:5899885-5954809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:316)
CpG islands
(count:734)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:5912497-5912707	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:5912394-5912741	K562	blood:	n/a	n/a
3	BACH1	chr11:5949537-5949904	K562	blood:	n/a	n/a
4	BACH1	chr11:5949390-5949949	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr11:5944337-5944642	GM12878	blood:	n/a	chr11:5944501-5944512
6	BATF	chr11:5944353-5944624	GM12878	blood:	n/a	chr11:5944501-5944512
7	BCL11A	chr11:5944350-5944565	GM12878	blood:	n/a	n/a
8	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
9	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
10	CEBPB	chr11:5945178-5945285	K562	blood:	n/a	n/a
11	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
12	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
13	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
14	CTCF	chr11:5912640-5912790	HCT-116	colon:	n/a	n/a
15	CTCF	chr11:5912520-5912670	HMEC	breast:	n/a	n/a
16	CTCF	chr11:5912420-5912570	NHLF	lung:	n/a	n/a
17	CTCF	chr11:5912828-5912860	GM19240	blood:	n/a	n/a
18	CTCF	chr11:5911940-5912090	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr11:5912560-5912710	GM12875	blood:	n/a	n/a
20	CTCF	chr11:5912560-5912710	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr11:5912640-5912790	HAc	cerebellar:	n/a	n/a
22	CTCF	chr11:5912540-5912690	HepG2	liver:	n/a	n/a
23	CTCF	chr11:5912512-5912699	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr11:5912860-5913010	GM12864	blood:	n/a	n/a
25	CTCF	chr11:5912856-5912947	GM12892	blood:	n/a	n/a
26	CTCF	chr11:5912600-5912750	HVMF	connective:	n/a	n/a
27	CTCF	chr11:5912514-5912712	K562	blood:	n/a	n/a
28	CTCF	chr11:5912580-5912730	HPF	lung:	n/a	n/a
29	CTCF	chr11:5912960-5913110	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr11:5912580-5912730	GM12872	blood:	n/a	n/a
31	CTCF	chr11:5912632-5912670	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr11:5949811-5949883	Fibrobl	skin:	n/a	n/a
33	CTCF	chr11:5912915-5913006	GM13977	blood:	n/a	n/a
34	CTCF	chr11:5912480-5912630	SAEC	small airway:	n/a	n/a
35	CTCF	chr11:5912527-5912658	HepG2	liver:	n/a	n/a
36	CTCF	chr11:5912520-5912670	BE2_C	brain:	n/a	n/a
37	CTCF	chr11:5912840-5912990	GM12865	blood:	n/a	n/a
38	CTCF	chr11:5912920-5913070	GM12864	blood:	n/a	n/a
39	CTCF	chr11:5912740-5912890	HAc	cerebellar:	n/a	n/a
40	CTCF	chr11:5912560-5912710	BE2_C	brain:	n/a	n/a
41	CTCF	chr11:5912600-5912750	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr11:5912600-5912750	GM12872	blood:	n/a	n/a
43	CTCF	chr11:5912540-5912690	HCFaa	heart:	n/a	n/a
44	CTCF	chr11:5912812-5912846	Gliobla	brain:	n/a	n/a
45	CTCF	chr11:5912538-5912688	LNCaP	prostate:	n/a	n/a
46	CTCF	chr11:5931094-5931181	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr11:5912439-5912816	K562	blood:	n/a	n/a
48	CTCF	chr11:5912534-5912663	GM10248	blood:	n/a	n/a
49	CTCF	chr11:5912600-5912750	GM12873	blood:	n/a	n/a
50	CTCF	chr11:5912520-5912670	HRPEpiC	eye:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5951316-5951366	SKMC	muscle:	n/a
2	chr11:5949877-5949927	AG09319	gingival:	n/a
3	chr11:5951316-5951366	SKMC	muscle:	n/a
4	chr11:5949877-5949927	AG09319	gingival:	n/a
5	chr11:5951360-5951410	AoSMC	blood vessel:	n/a
6	chr11:5951833-5951883	T-47D	breast:	n/a
7	chr11:5952089-5952139	NHBE	bronchial:	n/a
8	chr11:5951956-5952006	AG09309	skin:	n/a
9	chr11:5905350-5905400	SAEC	small airway:	n/a
10	chr11:5952089-5952139	HIPEpiC	eye:	n/a
11	chr11:5951833-5951883	AoSMC	blood vessel:	n/a
12	chr11:5951316-5951366	BE2_C	brain:	n/a
13	chr11:5951833-5951883	HMEC	breast:	n/a
14	chr11:5950357-5950407	AG04450	lung:	fetal
15	chr11:5949877-5949927	Jurkat	blood:	n/a
16	chr11:5951956-5952006	RPTEC	kidney:	n/a
17	chr11:5950798-5950848	SK-N-SH	brain:	n/a
18	chr11:5951433-5951483	CMK	blood:	n/a
19	chr11:5950798-5950848	HRCEpiC	kidney:	n/a
20	chr11:5949877-5949927	CMK	blood:	n/a
21	chr11:5905350-5905400	HEK293	kidney:	embryo
22	chr11:5951833-5951883	HCM	heart:	n/a
23	chr11:5950357-5950407	HepG2	liver:	n/a
24	chr11:5951433-5951483	ProgFib	skin:	n/a
25	chr11:5950357-5950407	Hepatocyte	liver:	n/a
26	chr11:5952089-5952139	ovcar-3	ovarian:	n/a
27	chr11:5905350-5905400	PFSK-1	brain:	n/a
28	chr11:5950798-5950848	CMK	blood:	n/a
29	chr11:5949877-5949927	SKMC	muscle:	n/a
30	chr11:5950798-5950848	GM12892	blood:	n/a
31	chr11:5951433-5951483	MCF10A-Er-Src	breast:	n/a
32	chr11:5952089-5952139	HMEC	breast:	n/a
33	chr11:5905350-5905400	GM12892	blood:	n/a
34	chr11:5951360-5951410	AG10803	skin:	n/a
35	chr11:5951433-5951483	HIPEpiC	eye:	n/a
36	chr11:5951360-5951410	HAEpiC	amniotic membrane:	n/a
37	chr11:5949877-5949927	BJ	skin:	n/a
38	chr11:5951048-5951098	AG09309	skin:	n/a
39	chr11:5949877-5949927	GM12878	blood:	n/a
40	chr11:5950798-5950848	K562	blood:	n/a
41	chr11:5949877-5949927	HCM	heart:	n/a
42	chr11:5949877-5949927	HEEpiC	esophagus:	n/a
43	chr11:5951048-5951098	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:5951956-5952006	IMR90	lung:	fetal
45	chr11:5951833-5951883	SK-N-MC	brain:	n/a
46	chr11:5905350-5905400	MCF-7	breast:	n/a
47	chr11:5951956-5952006	SK-N-SH	brain:	n/a
48	chr11:5950798-5950848	HUVEC	blood vessel:	n/a
49	chr11:5950357-5950407	HCM	heart:	n/a
50	chr11:5905350-5905400	H1-hESC	embryonic stem cell:	embryo

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
2	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:
3	chr11:5950723..5952254-chr7:153108526..153111145,2	K562	blood:
4	chr11:5950724..5952240-chr7:153107809..153110032,4	K562	blood:
5	chr11:5952222..5953725-chr7:153106291..153108525,3	K562	blood:
6	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
7	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR52E4	TF binding region
OR52E4	CpG island
ENSG00000234722	chromatin interactions

Extended variants
information (count: 548 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76975303	chr11:5901164-5901165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs553351827	chr11:5901171-5901172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574355613	chr11:5901180-5901181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs181697713	chr11:5901218-5901219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs563273543	chr11:5901257-5901258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575093951	chr11:5901260-5901261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs117675325	chr11:5901268-5901269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs7110455	chr11:5901276-5901277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs114964534	chr11:5901279-5901280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs116833956	chr11:5901293-5901294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561650659	chr11:5901302-5901303	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs116217314	chr11:5902989-5902990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs141968374	chr11:5902997-5902998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs147261333	chr11:5903018-5903019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs533317137	chr11:5903062-5903063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs551486335	chr11:5903134-5903135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs565309164	chr11:5903149-5903150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs534590536	chr11:5903214-5903215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs537876737	chr11:5903222-5903223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs554404491	chr11:5903226-5903227	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs74508254	chr11:5903257-5903258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs192044111	chr11:5903276-5903277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs373011343	chr11:5903301-5903302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549332145	chr11:5903316-5903317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs10769303	chr11:5903346-5903347	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538085996	chr11:5903351-5903352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs573817267	chr11:5903548-5903549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs139272756	chr11:5903557-5903558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs540511936	chr11:5903567-5903568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs562075701	chr11:5903599-5903600	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs149952354	chr11:5903600-5903601	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs544408929	chr11:5903615-5903616	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs114184461	chr11:5905351-5905352	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs371692932	chr11:5905364-5905365	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs539336728	chr11:5905374-5905375	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs535019277	chr11:5920621-5920622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541272697	chr11:5920633-5920634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138587785	chr11:5920643-5920644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189477472	chr11:5920647-5920648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11039508	chr11:5920697-5920698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568536676	chr11:5920699-5920700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10838795	chr11:5920721-5920722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145172234	chr11:5920722-5920723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550820444	chr11:5920749-5920750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35611233	chr11:5920771-5920772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569221935	chr11:5920791-5920792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539615723	chr11:5920795-5920796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116458530	chr11:5920807-5920808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550088266	chr11:5920814-5920815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573391907	chr11:5920824-5920825	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5920600-5921200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:5920800-5921200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:5920800-5921200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:5920800-5921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:5920800-5921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:5924800-5927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:5927600-5927800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:5944000-5944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:5944000-5944600	Enhancers	A549	lung
10	chr11:5944000-5944800	Enhancers	GM12878-XiMat	blood
11	chr11:5944000-5945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:5944000-5945200	Enhancers	NHEK	skin
13	chr11:5944000-5945400	Enhancers	HMEC	breast
14	chr11:5944200-5945000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:5950800-5951600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:5952000-5953000	ZNF genes & repeats	Pancreas	Pancrea
17	chr11:5952800-5959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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