Variant report

Variant	rs7222660
Chromosome Location	chr17:67053293-67053294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67043900..67046104-chr17:67052306..67054013,2	K562	blood:

Variant related genes	Relation type
ENSG00000154258	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10438703	1.00[JPT][hapmap]
rs10512522	1.00[EUR][1000 genomes]
rs10512524	1.00[EUR][1000 genomes]
rs10512525	1.00[EUR][1000 genomes]
rs12103660	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12103695	1.00[EUR][1000 genomes]
rs12103736	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602396	0.84[MEX][hapmap]
rs13342218	1.00[EUR][1000 genomes]
rs16973430	1.00[EUR][1000 genomes]
rs16973507	1.00[EUR][1000 genomes]
rs16973508	1.00[EUR][1000 genomes]
rs16973511	1.00[EUR][1000 genomes]
rs16973554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973575	1.00[EUR][1000 genomes]
rs2058128	1.00[EUR][1000 genomes]
rs28579127	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28777976	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28851500	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3863518	1.00[EUR][1000 genomes]
rs4968830	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4968991	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58968107	1.00[EUR][1000 genomes]
rs61744800	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7216483	1.00[EUR][1000 genomes]
rs7216499	1.00[EUR][1000 genomes]
rs7220968	1.00[EUR][1000 genomes]
rs72559406	1.00[EUR][1000 genomes]
rs73354278	1.00[EUR][1000 genomes]
rs8065592	1.00[EUR][1000 genomes]
rs8076805	1.00[EUR][1000 genomes]
rs8081075	1.00[EUR][1000 genomes]
rs9889750	1.00[EUR][1000 genomes]
rs9890027	1.00[EUR][1000 genomes]
rs9890160	1.00[EUR][1000 genomes]
rs9890600	1.00[EUR][1000 genomes]
rs9890654	1.00[EUR][1000 genomes]
rs9892453	1.00[EUR][1000 genomes]
rs9893173	1.00[EUR][1000 genomes]
rs9894894	1.00[EUR][1000 genomes]
rs9895934	1.00[EUR][1000 genomes]
rs9899675	1.00[EUR][1000 genomes]
rs9899818	1.00[EUR][1000 genomes]
rs9900211	1.00[EUR][1000 genomes]
rs9901117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9901228	1.00[EUR][1000 genomes]
rs9902715	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908650	1.00[EUR][1000 genomes]
rs9910224	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9913052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914407	1.00[EUR][1000 genomes]
rs9915531	1.00[EUR][1000 genomes]
rs9916254	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7222660	SLC16A6	cis	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67040800-67055600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr17:67041400-67072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr17:67044200-67053400	Weak transcription	Left Ventricle	heart
4	chr17:67044400-67057200	Weak transcription	Fetal Lung	lung
5	chr17:67046200-67057000	Weak transcription	HUVEC	blood vessel
6	chr17:67047600-67055000	Weak transcription	Adipose Nuclei	Adipose
7	chr17:67047800-67055400	Weak transcription	Osteobl	bone
8	chr17:67048400-67057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:67049400-67055200	Weak transcription	Right Atrium	heart
10	chr17:67050200-67055000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:67051800-67053400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:67052000-67055200	Weak transcription	NHDF-Ad	bronchial
13	chr17:67052200-67055400	Weak transcription	Fetal Kidney	kidney
14	chr17:67052800-67053600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:67052800-67054600	ZNF genes & repeats	Ovary	ovary
16	chr17:67053000-67054200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr17:67053200-67053600	ZNF genes & repeats	Fetal Muscle Leg	muscle
18	chr17:67053200-67053800	Enhancers	Stomach Mucosa	stomach
19	chr17:67053200-67053800	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links