Variant report

Variant	rs2167271
Chromosome Location	chr7:127874111-127874112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127867634..127869490-chr7:127873026..127875409,2	MCF-7	breast:
2	chr7:127873554..127876347-chr7:127879499..127882292,2	MCF-7	breast:
3	chr7:127863182..127865481-chr7:127873510..127875848,2	K562	blood:
4	chr7:127872543..127874497-chr7:127956158..127958595,2	K562	blood:

Variant related genes	Relation type
ENSG00000174697	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10243710	0.86[EUR][1000 genomes]
rs10264361	0.96[EUR][1000 genomes]
rs10276311	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1376349	0.89[EUR][1000 genomes]
rs2021808	0.89[EUR][1000 genomes]
rs2060713	1.00[EUR][1000 genomes]
rs2122627	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28954080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28954101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36219262	0.89[AFR][1000 genomes]
rs4236625	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs4731424	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4731427	0.88[EUR][1000 genomes]
rs6976458	0.82[EUR][1000 genomes]
rs7788818	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7795794	1.00[EUR][1000 genomes]
rs791603	0.93[EUR][1000 genomes]
rs791604	0.93[EUR][1000 genomes]
rs791606	0.84[EUR][1000 genomes]
rs791607	0.86[EUR][1000 genomes]
rs791608	0.86[EUR][1000 genomes]
rs791609	0.86[EUR][1000 genomes]
rs791616	1.00[EUR][1000 genomes]
rs791617	1.00[EUR][1000 genomes]
rs791620	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv5945	chr7:127852004-127880768	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127844000-127875600	Weak transcription	Right Atrium	heart
2	chr7:127868400-127876800	Weak transcription	HSMMtube	muscle
3	chr7:127869400-127874400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:127869600-127874400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:127870000-127875200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:127870200-127875000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:127870200-127875400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:127870400-127875400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:127870400-127875600	Weak transcription	Brain Germinal Matrix	brain
10	chr7:127870800-127875200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:127873400-127874200	Enhancers	NHEK	skin
12	chr7:127873800-127874600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr7:127874000-127875800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:127874000-127876000	Weak transcription	HMEC	breast
15	chr7:127874000-127876200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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