Variant report

Variant	rs7549374
Chromosome Location	chr1:221933231-221933232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221919412..221921894-chr1:221932218..221934661,2	K562	blood:
2	chr1:221924699..221928428-chr1:221930772..221933949,5	K562	blood:
3	chr1:221932602..221935280-chr1:221937123..221939979,2	K562	blood:
4	chr1:221915260..221918211-chr1:221931815..221934483,3	MCF-7	breast:
5	chr1:221914943..221918116-chr1:221930387..221938960,9	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10779455	1.00[ASN][1000 genomes]
rs10863650	1.00[ASN][1000 genomes]
rs11118830	1.00[ASN][1000 genomes]
rs11118832	1.00[ASN][1000 genomes]
rs11118849	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118851	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576121	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582814	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs12058360	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129426	1.00[ASN][1000 genomes]
rs12134197	1.00[ASN][1000 genomes]
rs57222604	0.85[EUR][1000 genomes]
rs58058349	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58969712	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60950693	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61696703	0.85[EUR][1000 genomes]
rs6679673	1.00[ASN][1000 genomes]
rs6689267	1.00[ASN][1000 genomes]
rs66916558	0.85[EUR][1000 genomes]
rs6693577	1.00[ASN][1000 genomes]
rs6701025	0.86[EUR][1000 genomes]
rs67225019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67299058	0.87[EUR][1000 genomes]
rs72736551	1.00[ASN][1000 genomes]
rs72736552	1.00[ASN][1000 genomes]
rs72736557	1.00[ASN][1000 genomes]
rs72736561	1.00[ASN][1000 genomes]
rs72736562	1.00[ASN][1000 genomes]
rs72736563	1.00[ASN][1000 genomes]
rs72736571	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340042	1.00[ASN][1000 genomes]
rs7534227	1.00[ASN][1000 genomes]

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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221929800-221934600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:221931000-221933800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:221931200-221933600	Enhancers	NHEK	skin
4	chr1:221931200-221933800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:221931200-221933800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:221931200-221935800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:221931400-221933400	Enhancers	HMEC	breast
8	chr1:221931400-221935200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:221931600-221936400	Enhancers	HUVEC	blood vessel
10	chr1:221931800-221935000	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:221932200-221934400	Weak transcription	Thymus	Thymus
12	chr1:221932200-221934800	Weak transcription	Fetal Thymus	thymus
13	chr1:221932800-221933400	Enhancers	Osteobl	bone
14	chr1:221932800-221933800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:221932800-221934200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:221932800-221936400	Enhancers	K562	blood
17	chr1:221933000-221933400	Flanking Active TSS	Hela-S3	cervix
18	chr1:221933200-221933800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:221933200-221933800	Enhancers	Pancreas	Pancrea
20	chr1:221933200-221934000	Enhancers	Stomach Mucosa	stomach
21	chr1:221933200-221935800	Flanking Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links