Variant report

Variant	rs2402442
Chromosome Location	chr7:118512118-118512119
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:118503790..118506549-chr7:118510715..118512350,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10241665	0.83[EUR][1000 genomes]
rs10252248	0.90[EUR][1000 genomes]
rs10253760	0.84[EUR][1000 genomes]
rs10256249	0.84[EUR][1000 genomes]
rs10500069	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1074111	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10953873	0.82[EUR][1000 genomes]
rs11763615	0.82[EUR][1000 genomes]
rs12668910	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12668926	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1320849	0.95[EUR][1000 genomes]
rs17141798	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17141814	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1881870	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2141558	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2222817	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2402424	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2590651	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2590653	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2699731	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2699765	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2699772	0.95[EUR][1000 genomes]
rs4279531	0.88[EUR][1000 genomes]
rs5027260	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59756920	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60203311	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60208831	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60591081	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6946677	0.81[EUR][1000 genomes]
rs6959236	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6959271	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6959301	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73469804	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73469807	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73469810	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73469815	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73469820	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73471513	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73471514	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73471520	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73488328	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7788712	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs879805	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889093	chr7:117977091-118709754	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv889096	chr7:118438184-118709754	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021902	chr7:118452600-118719244	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv889097	chr7:118458421-118634585	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118508400-118512800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:118509200-118512600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:118509400-118512600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:118509400-118512800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:118509600-118512600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:118510600-118512600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:118510800-118512200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:118510800-118512800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:118511800-118512800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:118512000-118512200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:118512000-118513600	Enhancers	NHEK	skin
12	chr7:118512000-118514200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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