Variant report

Variant	rs11061614
Chromosome Location	chr12:123597742-123597743
allele	A/G
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	REST	chr12:123597659-123597992	K562	blood:	n/a	chr12:123597855-123597869 chr12:123597849-123597869
2	REST	chr12:123597609-123598021	PANC-1	pancreas:	n/a	chr12:123597855-123597869 chr12:123597849-123597869
3	REST	chr12:123597677-123597914	PFSK-1	brain:	n/a	chr12:123597855-123597869 chr12:123597849-123597869
4	REST	chr12:123597601-123598116	ECC-1	luminal epithelium:	n/a	chr12:123597855-123597869 chr12:123597849-123597869
5	RAD21	chr12:123597740-123597909	K562	blood:	n/a	chr12:123597888-123597907
6	RAD21	chr12:123597663-123598031	ECC-1	luminal epithelium:	n/a	chr12:123597888-123597907
7	REST	chr12:123597672-123597949	PFSK-1	brain:	n/a	chr12:123597855-123597869 chr12:123597849-123597869
8	RAD21	chr12:123597742-123597878	Hela-S3	cervix:	n/a	n/a
9	REST	chr12:123597662-123597922	H1-hESC	embryonic stem cell:	n/a	chr12:123597855-123597869 chr12:123597849-123597869
10	REST	chr12:123597659-123598066	HL-60	blood:	n/a	chr12:123597855-123597869 chr12:123597849-123597869
11	REST	chr12:123597676-123598006	SK-N-SH	brain:	n/a	chr12:123597855-123597869 chr12:123597849-123597869
12	REST	chr12:123597613-123598097	ECC-1	luminal epithelium:	n/a	chr12:123597855-123597869 chr12:123597849-123597869
13	REST	chr12:123597680-123597989	H1-hESC	embryonic stem cell:	n/a	chr12:123597855-123597869 chr12:123597849-123597869
14	REST	chr12:123597726-123598003	GM12878	blood:	n/a	chr12:123597855-123597869 chr12:123597849-123597869

No.	Distal block	Cell Line	Cell type
1	chr12:123596283..123598515-chr17:56735298..56737640,2	MCF-7	breast:
2	chr12:123597677..123600543-chr12:123624922..123626506,2	K562	blood:
3	chr12:123546470..123548882-chr12:123596558..123599374,2	MCF-7	breast:
4	chr12:123597462..123600001-chr12:123600120..123602268,2	MCF-7	breast:

Variant related genes	Relation type
PITPNM2	TF binding region
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10846469	0.91[AMR][1000 genomes]
rs10846471	0.91[AMR][1000 genomes]
rs10846473	0.91[AMR][1000 genomes]
rs10846484	0.82[AMR][1000 genomes]
rs10846485	0.82[AMR][1000 genomes]
rs10848429	0.82[AMR][1000 genomes]
rs11057172	0.91[AMR][1000 genomes]
rs11057175	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057180	0.82[AMR][1000 genomes]
rs11061589	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11061601	0.82[AMR][1000 genomes]
rs11061611	1.00[AMR][1000 genomes]
rs11061616	1.00[AMR][1000 genomes]
rs12298355	0.91[AMR][1000 genomes]
rs12302334	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12306711	0.82[AMR][1000 genomes]
rs12311134	0.91[AMR][1000 genomes]
rs12318389	0.91[AMR][1000 genomes]
rs12318594	1.00[AMR][1000 genomes]
rs12319324	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
2	chr12:123571200-123600000	Genic enhancers	Thymus	Thymus
3	chr12:123583200-123599600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:123588000-123599000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:123590000-123598200	Enhancers	Right Atrium	heart
6	chr12:123590000-123603800	Enhancers	Left Ventricle	heart
7	chr12:123590600-123598800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:123591000-123599400	Enhancers	Brain Anterior Caudate	brain
9	chr12:123592000-123599000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:123592000-123599800	Weak transcription	HMEC	breast
11	chr12:123592200-123599200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:123592200-123600200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:123592200-123601000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:123592400-123598400	Weak transcription	HUVEC	blood vessel
15	chr12:123592400-123598600	Weak transcription	Fetal Lung	lung
16	chr12:123592400-123601000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:123592600-123598800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:123592800-123611200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:123593000-123597800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:123593200-123599200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:123593400-123599400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:123593600-123598000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:123593600-123599000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:123593600-123599000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:123593600-123599000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:123593800-123598400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:123593800-123599000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:123593800-123599000	Weak transcription	Hela-S3	cervix
29	chr12:123593800-123599000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:123594000-123599000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:123594000-123602200	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:123594200-123598800	Weak transcription	NHEK	skin
33	chr12:123594200-123599000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:123594200-123599000	Weak transcription	Placenta	Placenta
35	chr12:123594200-123599000	Weak transcription	Pancreas	Pancrea
36	chr12:123594400-123598000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:123594400-123599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:123594400-123599000	Weak transcription	Adipose Nuclei	Adipose
39	chr12:123594600-123597800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:123594600-123598800	Weak transcription	Psoas Muscle	Psoas
41	chr12:123594600-123607200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:123594600-123634000	Weak transcription	Brain Germinal Matrix	brain
43	chr12:123595200-123597800	Weak transcription	Brain Substantia Nigra	brain
44	chr12:123595200-123598200	Weak transcription	Primary T cells from cord blood	blood
45	chr12:123595200-123598800	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:123595200-123599800	Weak transcription	Fetal Intestine Small	intestine
47	chr12:123595200-123600000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:123595200-123610800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:123595400-123598000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:123595400-123599600	Weak transcription	Fetal Intestine Large	intestine

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