Variant report

Variant	rs61600841
Chromosome Location	chr12:117538091-117538092
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	MAX	chr12:117538075-117538505	H1-hESC	embryonic stem cell:	n/a	chr12:117538484-117538494 chr12:117538299-117538309
2	MAX	chr12:117538010-117538605	A549	lung:	n/a	chr12:117538484-117538494 chr12:117538299-117538309
3	CTCF	chr12:117538064-117538392	HepG2	liver:	n/a	chr12:117538276-117538285
4	CTCF	chr12:117538069-117538436	K562	blood:	n/a	chr12:117538276-117538285
5	RAD21	chr12:117538084-117538480	H1-hESC	embryonic stem cell:	n/a	chr12:117538278-117538287
6	CTCF	chr12:117538041-117538527	A549	lung:	n/a	chr12:117538276-117538285
7	SMC3	chr12:117538087-117538470	HepG2	liver:	n/a	n/a
8	MAX	chr12:117538054-117538491	K562	blood:	n/a	chr12:117538299-117538309
9	CTCF	chr12:117538038-117538632	A549	lung:	n/a	chr12:117538276-117538285
10	MAX	chr12:117538090-117538546	MCF-7	breast:	n/a	chr12:117538484-117538494 chr12:117538299-117538309
11	CTCF	chr12:117538062-117538471	K562	blood:	n/a	chr12:117538276-117538285
12	MAX	chr12:117538077-117538506	H1-hESC	embryonic stem cell:	n/a	chr12:117538484-117538494 chr12:117538299-117538309
13	CTCF	chr12:117538032-117538700	SK-N-SH	brain:	n/a	chr12:117538276-117538285
14	CTCF	chr12:117538060-117538210	GM12868	blood:	n/a	n/a
15	MYC	chr12:117538084-117538515	NB4	blood:	n/a	chr12:117538484-117538494 chr12:117538299-117538309
16	RAD21	chr12:117538085-117538517	MCF-7	breast:	n/a	chr12:117538278-117538287
17	CTCF	chr12:117538074-117538482	H1-hESC	embryonic stem cell:	n/a	chr12:117538276-117538285
18	CTCF	chr12:117538075-117538596	MCF-7	breast:	n/a	chr12:117538276-117538285

No.	Distal block	Cell Line	Cell type
1	chr12:117537725..117540420-chr12:117546898..117548910,2	K562	blood:
2	chr12:117462963..117463913-chr12:117537733..117538718,2	MCF-7	breast:
3	chr12:117463418..117463928-chr12:117537952..117538755,2	MCF-7	breast:

Variant related genes	Relation type
TESC	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7133141	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73408547	1.00[ASN][1000 genomes]
rs7954085	0.96[ASN][1000 genomes]
rs7962894	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7963062	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117536800-117538600	Enhancers	Fetal Heart	heart
2	chr12:117537600-117538200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:117537600-117538200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:117537600-117538200	Bivalent Enhancer	Brain Hippocampus Middle	brain
5	chr12:117537600-117538200	Bivalent Enhancer	Fetal Thymus	thymus
6	chr12:117537600-117538200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
7	chr12:117537600-117538400	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr12:117537600-117538800	Enhancers	Pancreas	Pancrea
9	chr12:117537600-117539200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:117537600-117539200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:117537600-117539400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:117537600-117540000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:117537600-117540000	Weak transcription	Left Ventricle	heart
14	chr12:117537600-117540600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr12:117537600-117556400	Weak transcription	Right Atrium	heart
16	chr12:117537800-117538600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr12:117537800-117538600	Enhancers	K562	blood
18	chr12:117537800-117539000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:117537800-117539800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:117537800-117539800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:117537800-117540200	Enhancers	A549	lung
22	chr12:117537800-117540400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:117537800-117543200	Weak transcription	Dnd41	blood
24	chr12:117538000-117538200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr12:117538000-117538600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:117538000-117538600	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr12:117538000-117538800	Flanking Active TSS	HepG2	liver

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