Variant report

Variant	rs4557544
Chromosome Location	chr6:128487597-128487598
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17055441	1.00[CEU][hapmap]
rs4243494	1.00[CEU][hapmap]
rs4628122	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6930547	1.00[EUR][1000 genomes]
rs6933029	1.00[CEU][hapmap]
rs7761076	1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs7767531	0.80[CHB][hapmap]
rs9321111	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[EUR][1000 genomes]
rs9372885	0.85[CHB][hapmap]
rs9375552	1.00[CEU][hapmap]
rs9375553	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9385450	0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9388621	1.00[CEU][hapmap]
rs9388622	1.00[CEU][hapmap]
rs9388623	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9398864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9398865	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9398866	1.00[CEU][hapmap]
rs9402017	1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs9402019	0.81[CHB][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9402023	1.00[CEU][hapmap]
rs9491913	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv604643	chr6:128359362-128493991	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv886650	chr6:128403745-128513395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1031827	chr6:128418702-128497881	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv528869	chr6:128421762-128496557	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv604646	chr6:128421762-128531651	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv604647	chr6:128421762-128547177	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv886651	chr6:128450019-128565778	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv886652	chr6:128455539-128496557	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv886653	chr6:128455539-128555805	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv886654	chr6:128471938-128555805	Weak transcription Enhancers 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128452600-128505200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:128456800-128488800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:128461400-128488600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:128461400-128488600	Weak transcription	NHEK	skin
5	chr6:128461400-128504400	Weak transcription	Fetal Intestine Large	intestine
6	chr6:128465600-128504400	Weak transcription	Fetal Thymus	thymus
7	chr6:128465600-128523200	Weak transcription	Left Ventricle	heart
8	chr6:128466200-128494000	Weak transcription	Fetal Heart	heart
9	chr6:128469400-128496200	Weak transcription	HepG2	liver
10	chr6:128472400-128494200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:128473600-128489200	Weak transcription	HMEC	breast
12	chr6:128477800-128504200	Weak transcription	HSMM	muscle
13	chr6:128479800-128488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:128480200-128494000	Weak transcription	NH-A	brain
15	chr6:128481000-128489200	Weak transcription	HUVEC	blood vessel
16	chr6:128481200-128489200	Weak transcription	Primary B cells from cord blood	blood
17	chr6:128486000-128489600	Weak transcription	Fetal Intestine Small	intestine
18	chr6:128487200-128494200	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:128487400-128487600	Enhancers	Fetal Lung	lung
20	chr6:128487400-128494000	Weak transcription	Brain Cingulate Gyrus	brain

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