Variant report

Variant	rs35767322
Chromosome Location	chr1:224648894-224648895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224644893..224646924-chr1:224647544..224649417,2	K562	blood:
2	chr1:224619496..224626224-chr1:224640836..224649586,12	K562	blood:

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10159333	0.89[EUR][1000 genomes]
rs10495219	0.88[EUR][1000 genomes]
rs10753467	0.92[EUR][1000 genomes]
rs10753468	0.92[EUR][1000 genomes]
rs10916614	0.87[EUR][1000 genomes]
rs10916616	0.89[EUR][1000 genomes]
rs10916617	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10916619	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576835	0.82[AMR][1000 genomes]
rs11577170	0.92[EUR][1000 genomes]
rs11577183	0.82[AMR][1000 genomes]
rs11578709	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11584638	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11588973	0.91[EUR][1000 genomes]
rs11590658	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800613	0.92[EUR][1000 genomes]
rs11801436	0.81[EUR][1000 genomes]
rs11801645	0.81[EUR][1000 genomes]
rs11805973	0.85[EUR][1000 genomes]
rs11807763	0.90[EUR][1000 genomes]
rs12062871	0.90[EUR][1000 genomes]
rs12731035	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12731630	0.92[EUR][1000 genomes]
rs12738799	0.88[EUR][1000 genomes]
rs12739486	0.88[EUR][1000 genomes]
rs12742989	0.88[EUR][1000 genomes]
rs12743200	0.92[EUR][1000 genomes]
rs12747286	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12751161	0.88[EUR][1000 genomes]
rs12754832	0.82[AMR][1000 genomes]
rs12755338	0.91[EUR][1000 genomes]
rs12758302	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12758579	0.92[EUR][1000 genomes]
rs1544196	0.90[EUR][1000 genomes]
rs16848365	0.92[EUR][1000 genomes]
rs17570292	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2185684	0.92[EUR][1000 genomes]
rs28434172	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2897048	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35011635	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35067427	0.92[EUR][1000 genomes]
rs35277713	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35303987	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35365551	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35571080	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35804313	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35915186	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4653587	0.89[EUR][1000 genomes]
rs55730749	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426121	0.81[EUR][1000 genomes]
rs6426123	0.89[EUR][1000 genomes]
rs6426125	0.89[EUR][1000 genomes]
rs6426126	0.89[EUR][1000 genomes]
rs66467176	0.91[EUR][1000 genomes]
rs6663522	0.92[EUR][1000 genomes]
rs6698343	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs68037178	0.81[AMR][1000 genomes]
rs71644786	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7365151	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514284	0.81[EUR][1000 genomes]
rs7514575	0.90[EUR][1000 genomes]
rs7527044	0.87[EUR][1000 genomes]
rs7529310	0.89[EUR][1000 genomes]
rs867362	0.92[EUR][1000 genomes]
rs885606	0.92[EUR][1000 genomes]
rs9970697	0.90[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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs35767322	CNIH4	cis	Esophagus Muscularis	GTEx
rs35767322	CNIH4	cis	Muscle Skeletal	GTEx
rs35767322	CNIH4	cis	Skin Sun Exposed Lower leg	GTEx
rs35767322	CNIH4	cis	Heart Left Ventricle	GTEx
rs35767322	CNIH4	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224628600-224653600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:224643400-224649000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:224644800-224651200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:224645000-224649200	Weak transcription	Esophagus	oesophagus
5	chr1:224645000-224649200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:224645400-224652000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:224645400-224653400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:224645400-224653400	Weak transcription	GM12878-XiMat	blood
9	chr1:224645400-224656200	Weak transcription	Primary T cells from cord blood	blood
10	chr1:224645800-224650000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:224647600-224651400	Weak transcription	Fetal Brain Male	brain
12	chr1:224647800-224649000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:224647800-224650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:224647800-224650800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:224647800-224650800	Weak transcription	Ovary	ovary
16	chr1:224648200-224649800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:224648400-224652800	Weak transcription	K562	blood

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