Variant report

Variant	esv3407558
Chromosome Location	chr11:67274456-67274781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr11:67271489-67275717	IMR90	lung:	n/a	chr11:67272871-67272881
2	CTCF	chr11:67274640-67274790	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr11:67272044-67274535	SK-N-SH	brain:	n/a	chr11:67273761-67273770 chr11:67273757-67273770 chr11:67273750-67273771 chr11:67273760-67273773 chr11:67273758-67273768 chr11:67272063-67272076 chr11:67272092-67272105 chr11:67273211-67273224 chr11:67273756-67273772 chr11:67273755-67273773
4	CTCF	chr11:67274680-67274830	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr11:67274660-67274810	RPTEC	kidney:	n/a	n/a
6	CTCF	chr11:67274760-67274910	HEEpiC	esophagus:	n/a	n/a
7	CTCF	chr11:67274766-67274886	GM12892	blood:	n/a	n/a
8	CTCF	chr11:67272561-67275214	A549	lung:	n/a	chr11:67273761-67273770 chr11:67273757-67273770 chr11:67273750-67273771 chr11:67273760-67273773 chr11:67273758-67273768 chr11:67274999-67275012 chr11:67273211-67273224 chr11:67273756-67273772 chr11:67273755-67273773
9	CTCF	chr11:67274720-67274870	GM12878	blood:	n/a	n/a
10	CTCF	chr11:67274640-67274790	HPF	lung:	n/a	n/a
11	CTCF	chr11:67274720-67274870	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr11:67274720-67274870	A549	lung:	n/a	n/a
13	ELF1	chr11:67274768-67276546	GM12878	blood:	n/a	chr11:67275839-67275851
14	ELF1	chr11:67274286-67274543	K562	blood:	n/a	n/a
15	HCFC1	chr11:67274349-67276814	Hela-S3	cervix:	n/a	n/a
16	JUN	chr11:67274578-67276903	K562	blood:	n/a	chr11:67275627-67275636 chr11:67276199-67276208
17	MXI1	chr11:67270977-67274595	IMR90	lung:	n/a	n/a
18	MXI1	chr11:67274743-67276763	IMR90	lung:	n/a	chr11:67276241-67276256 chr11:67276243-67276258
19	MXI1	chr11:67274641-67276789	SK-N-SH	brain:	n/a	chr11:67276241-67276256 chr11:67276243-67276258
20	POLR2A	chr11:67274692-67274891	K562	blood:	n/a	n/a
21	POLR2A	chr11:67274338-67274470	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:67274642-67276393	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:67271933-67274598	K562	blood:	n/a	n/a
24	RCOR1	chr11:67274557-67276938	IMR90	lung:	n/a	n/a

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
2	chr11:67249454..67253550-chr11:67271231..67274487,6	MCF-7	breast:
3	chr11:67158769..67160682-chr11:67274736..67276408,2	MCF-7	breast:
4	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
5	chr11:67274528..67277767-chr11:67349958..67353064,4	K562	blood:
6	chr11:67272696..67275492-chr11:67373280..67375901,2	MCF-7	breast:
7	chr11:67247191..67252288-chr11:67270350..67277699,12	MCF-7	breast:
8	chr11:67201204..67205243-chr11:67272634..67278205,5	MCF-7	breast:
9	chr11:67140485..67142430-chr11:67273527..67275502,2	K562	blood:
10	chr11:67272994..67275730-chr6:26029475..26032362,2	K562	blood:
11	chr11:67186666..67191064-chr11:67273296..67275634,4	K562	blood:
12	chr11:67234460..67237754-chr11:67271882..67275850,7	MCF-7	breast:
13	chr11:67157498..67160851-chr11:67271704..67276538,6	K562	blood:
14	chr11:67175295..67177468-chr11:67274003..67276174,2	MCF-7	breast:
15	chr11:67232230..67234303-chr11:67273494..67275304,2	K562	blood:
16	chr11:67232230..67238185-chr11:67272105..67277120,9	K562	blood:
17	chr11:67172030..67174041-chr11:67273255..67275268,2	MCF-7	breast:
18	chr11:67140165..67142541-chr11:67273740..67276217,2	MCF-7	breast:
19	chr11:67172672..67175218-chr11:67274575..67276166,2	K562	blood:
20	chr11:67271788..67274805-chr11:67372108..67375948,3	K562	blood:
21	chr11:67156232..67161608-chr11:67271298..67276147,11	MCF-7	breast:
22	chr11:67270685..67273123-chr11:67274247..67277444,3	K562	blood:
23	chr11:67156605..67157522-chr11:67274230..67274911,2	K562	blood:
24	chr11:67052872..67055062-chr11:67273802..67275420,2	K562	blood:
25	chr11:67274110..67276658-chr11:67374314..67376513,2	K562	blood:
26	chr11:67201617..67208575-chr11:67270788..67277143,13	K562	blood:
27	chr11:67186666..67189529-chr11:67272076..67275550,4	K562	blood:
28	chr11:67206947..67211030-chr11:67273670..67277577,4	MCF-7	breast:
29	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
30	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:
31	chr11:67166559..67171272-chr11:67271633..67274655,6	MCF-7	breast:
32	chr11:67194364..67200337-chr11:67272800..67277654,9	MCF-7	breast:
33	chr11:67139414..67143301-chr11:67273275..67276817,6	MCF-7	breast:
34	chr11:67255717..67258681-chr11:67274499..67276548,2	K562	blood:
35	chr11:67118066..67122624-chr11:67272137..67276691,11	MCF-7	breast:
36	chr11:67266460..67268680-chr11:67274631..67276596,2	MCF-7	breast:
37	chr11:67234712..67238016-chr11:67274176..67276331,3	K562	blood:
38	chr11:67256017..67258793-chr11:67272672..67274747,2	MCF-7	breast:

No data

Variant related genes	Relation type
PITPNM1	TF binding region
ENSG00000172613	chromatin interactions
ENSG00000255949	chromatin interactions
ENSG00000084207	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000175482	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000172508	chromatin interactions
ENSG00000184224	chromatin interactions
ENSG00000213402	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000175634	chromatin interactions
ENSG00000175463	chromatin interactions
ENSG00000172725	chromatin interactions
ENSG00000167792	chromatin interactions
ENSG00000255119	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000172531	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534123109	chr11:67274524-67274525	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
2	rs528947336	chr11:67274574-67274575	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
3	rs541115346	chr11:67274584-67274585	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
4	rs142700828	chr11:67274602-67274603	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
5	rs533132617	chr11:67274608-67274609	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
6	rs57749415	chr11:67274621-67274622	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534338115	chr11:67274682-67274683	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
8	rs563213107	chr11:67274718-67274719	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67270600-67276600	Enhancers	Fetal Heart	heart
2	chr11:67271000-67276800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:67271200-67275400	Flanking Active TSS	Pancreas	Pancrea
4	chr11:67271200-67275600	Flanking Active TSS	Colonic Mucosa	Colon
5	chr11:67272600-67274800	Weak transcription	Fetal Kidney	kidney
6	chr11:67272600-67276400	Enhancers	Fetal Brain Male	brain
7	chr11:67272800-67274800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:67272800-67274800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:67272800-67274800	Enhancers	Spleen	Spleen
10	chr11:67272800-67275000	Weak transcription	Small Intestine	intestine
11	chr11:67272800-67275200	Weak transcription	Ovary	ovary
12	chr11:67273000-67274600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:67273000-67274800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:67273000-67274800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:67273000-67275000	Flanking Active TSS	GM12878-XiMat	blood
16	chr11:67273000-67275000	Flanking Active TSS	HepG2	liver
17	chr11:67273000-67275400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr11:67273000-67275400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr11:67273200-67274600	Weak transcription	Fetal Brain Female	brain
20	chr11:67273200-67274800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:67273200-67275000	Enhancers	Primary hematopoietic stem cells	blood
22	chr11:67273200-67275000	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:67273400-67274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:67273400-67275400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr11:67273400-67276600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:67273600-67274600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:67273600-67274600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:67273600-67274600	Enhancers	Primary B cells from cord blood	blood
29	chr11:67273600-67274600	Enhancers	HSMM	muscle
30	chr11:67273600-67274600	Enhancers	HUVEC	blood vessel
31	chr11:67273600-67274600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr11:67273600-67274600	Enhancers	NH-A	brain
33	chr11:67273600-67274800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:67273600-67274800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:67273600-67274800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:67273600-67274800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:67273600-67274800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:67273600-67274800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:67273600-67274800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:67273600-67274800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:67273600-67274800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:67273600-67274800	Weak transcription	Aorta	Aorta
43	chr11:67273600-67274800	Enhancers	Brain Germinal Matrix	brain
44	chr11:67273600-67274800	Enhancers	Brain Substantia Nigra	brain
45	chr11:67273600-67274800	Enhancers	Esophagus	oesophagus
46	chr11:67273600-67274800	Active TSS	Psoas Muscle	Psoas
47	chr11:67273600-67274800	Weak transcription	Right Atrium	heart
48	chr11:67273600-67274800	Enhancers	NHDF-Ad	bronchial
49	chr11:67273600-67274800	Active TSS	Osteobl	bone
50	chr11:67273600-67275000	Enhancers	Primary monocytes fromperipheralblood	blood

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