Variant report

Variant	esv3373066
Chromosome Location	chr11:57007276-57011574
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	chr11:57010036-57010311	K562	blood:	n/a	n/a
2	BHLHE40	chr11:57009893-57010264	K562	blood:	n/a	n/a
3	CBX3	chr11:57009767-57010169	K562	blood:	n/a	n/a
4	CCNT2	chr11:57009967-57010256	K562	blood:	n/a	chr11:57010058-57010067 chr11:57010228-57010237
5	CEBPB	chr11:57010285-57010634	K562	blood:	n/a	n/a
6	CEBPB	chr11:57008466-57008721	K562	blood:	n/a	chr11:57008594-57008605
7	CEBPD	chr11:57009880-57010385	K562	blood:	n/a	n/a
8	CHD2	chr11:57009968-57010168	K562	blood:	n/a	n/a
9	CTCF	chr11:57008280-57008430	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr11:57008280-57008550	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr11:57008100-57008250	BE2_C	brain:	n/a	n/a
12	EP300	chr11:57008140-57008666	SK-N-SH	brain:	n/a	chr11:57008593-57008607
13	EP300	chr11:57008078-57008732	SK-N-SH_RA	brain:	n/a	chr11:57008593-57008607
14	EP300	chr11:57007219-57009560	SK-N-SH	brain:	n/a	chr11:57009230-57009240 chr11:57008593-57008607 chr11:57007390-57007397
15	EP300	chr11:57008129-57008689	SK-N-SH_RA	brain:	n/a	chr11:57008593-57008607
16	EP300	chr11:57009836-57010352	K562	blood:	n/a	chr11:57010027-57010041
17	EP300	chr11:57007562-57007881	SK-N-SH_RA	brain:	n/a	n/a
18	GATA1	chr11:57009909-57010475	PBDE	blood:	n/a	n/a
19	GATA1	chr11:57006694-57007347	PBDE	blood:	n/a	n/a
20	GATA1	chr11:57009683-57010496	K562	blood:	n/a	n/a
21	GATA2	chr11:57008029-57008992	SH-SY5Y	brain:	n/a	chr11:57008928-57008936 chr11:57008457-57008466
22	GATA3	chr11:57008120-57008815	SK-N-SH	brain:	n/a	chr11:57008457-57008466
23	GATA3	chr11:57011130-57011349	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr11:57008112-57008883	SK-N-SH	brain:	n/a	chr11:57008457-57008466
25	GATA3	chr11:57008056-57008831	SH-SY5Y	brain:	n/a	chr11:57008457-57008466
26	HDAC2	chr11:57009995-57010268	K562	blood:	n/a	chr11:57010083-57010092 chr11:57010081-57010090 chr11:57010087-57010096
27	HMGN3	chr11:57009970-57010257	K562	blood:	n/a	chr11:57010153-57010160
28	IRF1	chr11:57009990-57010371	K562	blood:	n/a	chr11:57010192-57010206 chr11:57010196-57010206 chr11:57010194-57010208 chr11:57010193-57010207
29	JUND	chr11:57009875-57010211	K562	blood:	n/a	chr11:57010193-57010205
30	MAX	chr11:57009782-57010154	K562	blood:	n/a	chr11:57009880-57009889
31	MAZ	chr11:57009799-57010323	K562	blood:	n/a	chr11:57009880-57009889
32	MXI1	chr11:57007471-57009654	SK-N-SH	brain:	n/a	n/a
33	MYC	chr11:57009957-57010322	K562	blood:	n/a	n/a
34	MYC	chr11:57009986-57010239	K562	blood:	n/a	n/a
35	NRF1	chr11:57009962-57010198	K562	blood:	n/a	chr11:57010081-57010092 chr11:57010083-57010092 chr11:57010081-57010092 chr11:57010081-57010095 chr11:57010092-57010103
36	POLR2A	chr11:57011483-57011872	K562	blood:	n/a	n/a
37	POLR2A	chr11:57007507-57008082	K562	blood:	n/a	n/a
38	POLR2A	chr11:57008236-57008687	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr11:57009871-57010390	K562	blood:	n/a	n/a
40	POLR2A	chr11:57009845-57010337	K562	blood:	n/a	n/a
41	POLR2A	chr11:57008395-57008898	K562	blood:	n/a	n/a
42	RAD21	chr11:57008149-57008703	SK-N-SH_RA	brain:	n/a	chr11:57008507-57008519 chr11:57008509-57008519
43	RAD21	chr11:57008143-57008766	SK-N-SH_RA	brain:	n/a	chr11:57008507-57008519 chr11:57008509-57008519
44	RCOR1	chr11:57008351-57008654	K562	blood:	n/a	n/a
45	RCOR1	chr11:57009955-57010243	K562	blood:	n/a	n/a
46	REST	chr11:57008065-57008721	SK-N-SH	brain:	n/a	n/a
47	REST	chr11:57008165-57008367	SK-N-SH	brain:	n/a	n/a
48	SPI1	chr11:57009860-57010014	K562	blood:	n/a	chr11:57009960-57009973
49	TAL1	chr11:57009963-57010347	K562	blood:	n/a	n/a
50	TAL1	chr11:57010932-57010936	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57010853..57012684-chr11:57014374..57016452,2	K562	blood:
2	chr11:57011184..57013387-chr11:57014609..57016452,2	K562	blood:
3	chr11:56888220..56889882-chr11:57010746..57012751,2	K562	blood:
4	chr11:56992366..56994767-chr11:57010638..57012947,2	K562	blood:

Variant related genes	Relation type
APLNR	TF binding region

Extended variants
information (count: 162 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs553231343	chr11:57007352-57007353	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs80028652	chr11:57007364-57007365	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs187130433	chr11:57007367-57007368	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs568119084	chr11:57007424-57007425	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs552316504	chr11:57007425-57007426	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs535212556	chr11:57007465-57007466	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs550735073	chr11:57007467-57007468	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs569253344	chr11:57007493-57007494	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs545189449	chr11:57007532-57007533	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs192048119	chr11:57007535-57007536	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs76710660	chr11:57007557-57007558	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139177991	chr11:57007587-57007588	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs572807882	chr11:57007622-57007623	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs145360159	chr11:57007625-57007626	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs374612021	chr11:57007639-57007640	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs17651573	chr11:57007657-57007658	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568512120	chr11:57007665-57007666	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs529682016	chr11:57007673-57007674	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs534171414	chr11:57007708-57007709	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs541993834	chr11:57007734-57007735	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs147660093	chr11:57007753-57007754	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs575795777	chr11:57007768-57007769	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs372669277	chr11:57007791-57007792	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs7130847	chr11:57007803-57007804	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564729913	chr11:57007975-57007976	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs528816462	chr11:57008036-57008037	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs540200454	chr11:57008100-57008101	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs114328169	chr11:57008155-57008156	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370329008	chr11:57008162-57008163	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7128178	chr11:57008182-57008183	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183411651	chr11:57008184-57008185	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs569021520	chr11:57008185-57008186	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs532919174	chr11:57008203-57008204	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs188266408	chr11:57008204-57008205	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs73470506	chr11:57008246-57008247	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533852940	chr11:57008355-57008356	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs553317118	chr11:57008391-57008392	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs75988014	chr11:57008394-57008395	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs142330818	chr11:57008415-57008416	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs557214997	chr11:57008432-57008433	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs575703189	chr11:57008496-57008497	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs546390949	chr11:57008528-57008529	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs10736682	chr11:57008536-57008537	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573560808	chr11:57008562-57008563	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs76045400	chr11:57008664-57008665	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs561720166	chr11:57008707-57008708	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs528921014	chr11:57008747-57008748	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs544201857	chr11:57008754-57008755	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs548403344	chr11:57008798-57008799	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs562394410	chr11:57009009-57009010	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	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
Prostate cancer	18632612	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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
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
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56999200-57007800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr11:57003200-57007400	Weak transcription	HSMMtube	muscle
3	chr11:57004200-57009200	Weak transcription	Gastric	stomach
4	chr11:57005000-57009200	Weak transcription	Fetal Lung	lung
5	chr11:57005200-57008200	Weak transcription	Right Atrium	heart
6	chr11:57005200-57009000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:57005200-57009200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:57005200-57009200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:57005200-57009200	Weak transcription	Adipose Nuclei	Adipose
10	chr11:57005200-57009200	Weak transcription	Left Ventricle	heart
11	chr11:57005200-57009200	Weak transcription	Lung	lung
12	chr11:57005200-57009800	Enhancers	K562	blood
13	chr11:57005200-57016400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:57005400-57007400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:57005400-57007600	Weak transcription	Placenta	Placenta
16	chr11:57005400-57007800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:57005400-57008200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:57005400-57008400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:57005400-57008400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:57005400-57010000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:57005600-57007600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:57005600-57009200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:57006000-57007600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:57006000-57007600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:57006000-57008400	Weak transcription	Spleen	Spleen
26	chr11:57006200-57007800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:57006200-57008000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:57006200-57008200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:57006800-57009200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:57006800-57009600	Enhancers	Liver	Liver
31	chr11:57006800-57010400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:57007000-57008800	Enhancers	Stomach Smooth Muscle	stomach
33	chr11:57007000-57009400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:57007000-57010000	Enhancers	A549	lung
35	chr11:57007200-57007400	Enhancers	Brain Anterior Caudate	brain
36	chr11:57007200-57007400	Enhancers	Colon Smooth Muscle	Colon
37	chr11:57007200-57007600	Enhancers	Stomach Mucosa	stomach
38	chr11:57007200-57008000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr11:57007200-57008000	Enhancers	Rectal Smooth Muscle	rectum
40	chr11:57007200-57011400	Enhancers	Fetal Muscle Leg	muscle
41	chr11:57007400-57007600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr11:57007400-57009000	Weak transcription	Brain Anterior Caudate	brain
43	chr11:57007400-57010400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:57007400-57010400	Enhancers	HSMMtube	muscle
45	chr11:57007600-57007800	Enhancers	HSMM	muscle
46	chr11:57007600-57008600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr11:57007600-57010000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:57007600-57010000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:57007600-57010800	Enhancers	Fetal Muscle Trunk	muscle
50	chr11:57007600-57011200	Enhancers	Placenta	Placenta

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