Variant report

Variant	rs56154423
Chromosome Location	chr7:127998990-127998991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127987637..127990032-chr7:127996587..127999428,2	MCF-7	breast:
2	chr7:127984024..127986561-chr7:127997384..127999577,3	K562	blood:
3	chr7:127996352..127999445-chr7:128029289..128030923,3	K562	blood:
4	chr7:127993467..127995133-chr7:127996193..127999094,2	K562	blood:
5	chr7:127997986..128000354-chr7:128001685..128004213,3	K562	blood:

Variant related genes	Relation type
ENSG00000224940	Chromatin interaction
ENSG00000238750	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10269842	1.00[ASN][1000 genomes]
rs1119467	0.93[AMR][1000 genomes]
rs12111601	0.82[AMR][1000 genomes]
rs17735958	1.00[ASN][1000 genomes]
rs28399051	1.00[ASN][1000 genomes]
rs28541365	1.00[ASN][1000 genomes]
rs28566925	1.00[ASN][1000 genomes]
rs28692983	1.00[ASN][1000 genomes]
rs34726078	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36034148	1.00[ASN][1000 genomes]
rs56340588	1.00[ASN][1000 genomes]
rs62484029	1.00[ASN][1000 genomes]
rs62484030	1.00[ASN][1000 genomes]
rs62484031	1.00[ASN][1000 genomes]
rs62484032	1.00[ASN][1000 genomes]
rs62484033	1.00[ASN][1000 genomes]
rs6975863	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv365384	chr7:127997292-128001042	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56154423	FAM71F2	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127992800-128000600	Weak transcription	Right Atrium	heart
2	chr7:127995800-128000200	Weak transcription	Ovary	ovary
3	chr7:127997000-128000400	Enhancers	Adipose Nuclei	Adipose
4	chr7:127997000-128001000	Weak transcription	HSMMtube	muscle
5	chr7:127997200-128001000	Weak transcription	Left Ventricle	heart
6	chr7:127997400-127999800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:127997400-128000400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:127997400-128000400	Weak transcription	HSMM	muscle
9	chr7:127997600-128000400	Weak transcription	Right Ventricle	heart
10	chr7:127997600-128000400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr7:127997600-128000600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:127997600-128000800	Enhancers	Primary B cells from cord blood	blood
13	chr7:127997800-127999000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:127997800-127999000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:127998000-128000800	Weak transcription	Fetal Heart	heart
16	chr7:127998200-128001000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:127998400-127999400	Weak transcription	Spleen	Spleen
18	chr7:127998400-127999800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:127998400-128000000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:127998400-128000400	Weak transcription	Primary hematopoietic stem cells	blood

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