Variant report

Variant	rs2331742
Chromosome Location	chr1:180523148-180523149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180518213..180520300-chr1:180521624..180524471,2	K562	blood:
2	chr1:180514007..180517933-chr1:180519953..180524083,4	K562	blood:
3	chr1:180513229..180515531-chr1:180521057..180523264,2	MCF-7	breast:
4	chr1:180521347..180523149-chr1:180523872..180526102,2	K562	blood:
5	chr1:180520523..180523289-chr1:180525357..180527506,2	K562	blood:
6	chr1:180498180..180501073-chr1:180520862..180523498,2	MCF-7	breast:
7	chr1:180520741..180525768-chr1:180529838..180532812,4	MCF-7	breast:
8	chr1:180522675..180524716-chr1:180601088..180603010,2	MCF-7	breast:
9	chr1:180520662..180524325-chr1:180527806..180530510,3	K562	blood:
10	chr1:180518736..180521138-chr1:180521840..180525224,3	K562	blood:
11	chr1:180516263..180518210-chr1:180520202..180523252,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236719	Chromatin interaction
ENSG00000143324	Chromatin interaction
ENSG00000266683	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10157891	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10733004	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10737343	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10737344	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10737345	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10753213	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10798763	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10798764	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10913972	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10914011	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12144149	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12565152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1339722	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1339723	0.88[EUR][1000 genomes]
rs1361628	0.84[EUR][1000 genomes]
rs1418100	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1418103	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1556935	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1556938	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1591898	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1934411	0.88[EUR][1000 genomes]
rs1970401	0.84[AMR][1000 genomes]
rs2153327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331739	0.88[EUR][1000 genomes]
rs41267628	0.91[AMR][1000 genomes]
rs41267634	0.91[AMR][1000 genomes]
rs4281291	0.81[EUR][1000 genomes]
rs4304539	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4333819	0.81[EUR][1000 genomes]
rs4532796	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4540612	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4651063	0.84[EUR][1000 genomes]
rs4651066	0.88[EUR][1000 genomes]
rs4652502	0.84[EUR][1000 genomes]
rs4652510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809269	0.84[AMR][1000 genomes]
rs61809270	0.84[AMR][1000 genomes]
rs61809273	0.84[AMR][1000 genomes]
rs61809274	0.84[AMR][1000 genomes]
rs61809275	0.84[AMR][1000 genomes]
rs61809276	0.84[AMR][1000 genomes]
rs61811598	1.00[AFR][1000 genomes]
rs61811599	1.00[AFR][1000 genomes]
rs61811602	1.00[AFR][1000 genomes]
rs61811603	1.00[AFR][1000 genomes]
rs61811605	1.00[AFR][1000 genomes]
rs61811613	1.00[AFR][1000 genomes]
rs61811614	1.00[AFR][1000 genomes]
rs61811617	1.00[AFR][1000 genomes]
rs61811618	1.00[AFR][1000 genomes]
rs61811619	1.00[AFR][1000 genomes]
rs61811621	1.00[AFR][1000 genomes]
rs61811627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61811630	0.91[AMR][1000 genomes]
rs61811631	0.91[AMR][1000 genomes]
rs61811635	0.84[AMR][1000 genomes]
rs6425622	0.84[EUR][1000 genomes]
rs6425623	0.81[EUR][1000 genomes]
rs6425624	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6425626	0.84[EUR][1000 genomes]
rs6425630	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6425642	0.88[EUR][1000 genomes]
rs6425647	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6659147	0.81[EUR][1000 genomes]
rs6665615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6677367	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6678261	0.87[EUR][1000 genomes]
rs6680754	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6683484	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6687873	0.84[EUR][1000 genomes]
rs6691333	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6695360	0.84[EUR][1000 genomes]
rs7515052	0.88[EUR][1000 genomes]
rs7522928	0.88[EUR][1000 genomes]
rs7526743	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7529042	0.83[EUR][1000 genomes]
rs7532972	0.84[EUR][1000 genomes]
rs7542568	0.94[EUR][1000 genomes]
rs7546030	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7548707	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7555087	0.88[EUR][1000 genomes]
rs946633	0.86[EUR][1000 genomes]
rs946634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
3	chr1:180517600-180523200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:180521400-180525400	Weak transcription	Left Ventricle	heart
5	chr1:180521800-180524400	Weak transcription	K562	blood
6	chr1:180521800-180530200	Weak transcription	Right Atrium	heart
7	chr1:180522600-180523400	Enhancers	Skeletal Muscle Male	skeletal muscle

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