Variant report

Variant	rs6740124
Chromosome Location	chr2:183106825-183106826
allele	C/T
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	JUND	chr2:183106824-183107166	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183103040..183104711-chr2:183106820..183108898,2	K562	blood:

Variant related genes	Relation type
PDE1A	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10165500	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs10171911	1.00[EUR][1000 genomes]
rs10174618	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10181570	1.00[EUR][1000 genomes]
rs10182266	1.00[MEX][hapmap];0.92[MKK][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs10184869	1.00[EUR][1000 genomes]
rs10185985	1.00[EUR][1000 genomes]
rs10197132	1.00[EUR][1000 genomes]
rs10204911	1.00[EUR][1000 genomes]
rs11901012	1.00[EUR][1000 genomes]
rs13383296	0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13388735	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs13388823	1.00[EUR][1000 genomes]
rs13399478	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs13400663	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs13403591	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs13406342	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs13416498	1.00[EUR][1000 genomes]
rs13432152	1.00[MEX][hapmap];0.97[MKK][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs1347732	1.00[MEX][hapmap]
rs16822895	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16822899	0.91[YRI][hapmap]
rs16823102	1.00[EUR][1000 genomes]
rs1864853	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs2448980	1.00[MEX][hapmap]
rs2623421	1.00[MEX][hapmap]
rs2623432	1.00[MEX][hapmap]
rs2623436	1.00[MEX][hapmap]
rs58264204	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59076821	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6433964	1.00[EUR][1000 genomes]
rs6759450	1.00[MEX][hapmap]
rs6760081	1.00[EUR][1000 genomes]
rs73038165	1.00[EUR][1000 genomes]
rs73977312	1.00[EUR][1000 genomes]
rs73977325	1.00[EUR][1000 genomes]
rs73977328	1.00[EUR][1000 genomes]
rs7561341	1.00[EUR][1000 genomes]
rs7567023	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs7574051	1.00[EUR][1000 genomes]
rs7578466	1.00[MEX][hapmap];0.97[MKK][hapmap];0.90[YRI][hapmap]
rs833122	1.00[MEX][hapmap]

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	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1805452	chr2:183086478-183107270	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1809585	chr2:183086478-183107270	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183099400-183107200	Weak transcription	Fetal Brain Male	brain
2	chr2:183104600-183112800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:183105000-183109400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:183105000-183110600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:183105600-183107200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:183105800-183107000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:183105800-183107200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:183105800-183107600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:183105800-183107600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:183105800-183107600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:183105800-183107800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:183106000-183107000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:183106200-183107000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:183106200-183107000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:183106200-183107800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:183106200-183109600	Weak transcription	Right Ventricle	heart
17	chr2:183106400-183138400	Weak transcription	Aorta	Aorta
18	chr2:183106600-183107000	Enhancers	Brain Angular Gyrus	brain
19	chr2:183106600-183107400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:183106800-183107200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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