Variant report

Variant	rs67947164
Chromosome Location	chr1:223362286-223362287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223361957..223364992-chr1:223369104..223372360,3	K562	blood:
2	chr1:223357093..223359712-chr1:223361677..223364231,3	MCF-7	breast:
3	chr1:223361935..223364100-chr1:223404912..223406820,2	K562	blood:
4	chr1:223317092..223318703-chr1:223360927..223362518,2	MCF-7	breast:
5	chr1:223354207..223356129-chr1:223360321..223362765,2	K562	blood:

Variant related genes	Relation type
ENSG00000236846	Chromatin interaction
ENSG00000226601	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12122451	0.84[AMR][1000 genomes]
rs17609948	0.82[AMR][1000 genomes]
rs17661703	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1773755	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1773756	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1773757	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1773758	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2247421	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4140967	0.84[AMR][1000 genomes]
rs61837564	0.81[AMR][1000 genomes]
rs61837568	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61837569	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61837573	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61837574	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61837575	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61837576	0.84[AMR][1000 genomes]
rs61837577	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72743865	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72743873	0.84[AMR][1000 genomes]
rs72743881	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs851166	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs851171	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9442047	0.81[ASN][1000 genomes]
rs9442048	0.81[ASN][1000 genomes]
rs975089	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223349800-223375400	Weak transcription	Right Atrium	heart
2	chr1:223361000-223364000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:223361400-223363800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:223361400-223365400	Enhancers	Primary T cells from cord blood	blood
5	chr1:223361400-223365400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:223361600-223362800	Enhancers	Liver	Liver
7	chr1:223361600-223363000	Weak transcription	Esophagus	oesophagus
8	chr1:223361600-223363400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:223361600-223364000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:223361600-223365600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:223361800-223364000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:223361800-223366400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:223362000-223363600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:223362000-223364200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr1:223362000-223365000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:223362000-223365200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:223362200-223362600	Enhancers	Pancreas	Pancrea
18	chr1:223362200-223362800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:223362200-223362800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr1:223362200-223362800	Enhancers	Spleen	Spleen
21	chr1:223362200-223363800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:223362200-223365000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:223362200-223366200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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