Variant report

Variant	rs5745368
Chromosome Location	chr1:76279858-76279859
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	chr1:76263795..76266043-chr1:76279563..76282282,3	K562	blood:
2	chr1:76252079..76256078-chr1:76276265..76280067,4	K562	blood:

Variant related genes	Relation type
ENSG00000137955	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000207241	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1146591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146631	1.00[JPT][hapmap]
rs12044025	1.00[YRI][hapmap]
rs1251534	1.00[ASN][1000 genomes]
rs12724819	1.00[ASN][1000 genomes]
rs12726486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12727287	1.00[ASN][1000 genomes]
rs12731410	0.83[ASN][1000 genomes]
rs12731627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12732407	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12732472	1.00[ASN][1000 genomes]
rs12733990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12740253	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744608	1.00[YRI][hapmap]
rs12749266	1.00[ASN][1000 genomes]
rs12759535	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612901	0.83[ASN][1000 genomes]
rs17848065	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34079902	1.00[ASN][1000 genomes]
rs34218840	1.00[ASN][1000 genomes]
rs34270172	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34748623	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34812705	1.00[ASN][1000 genomes]
rs34892795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34898565	1.00[ASN][1000 genomes]
rs34977392	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35283569	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35321712	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35416402	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35424470	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35505941	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35614774	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35857029	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35937370	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35961154	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35970385	1.00[ASN][1000 genomes]
rs4335328	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472716	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55764969	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55970724	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403434	0.83[ASN][1000 genomes]
rs57218288	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57389460	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745332	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745355	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745362	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745369	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5745425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745428	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745503	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5745537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5745549	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs58068229	1.00[ASN][1000 genomes]
rs71502707	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656849	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656851	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656852	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656853	0.81[AMR][1000 genomes]
rs71656854	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656855	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656857	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656858	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656866	1.00[ASN][1000 genomes]
rs71656867	1.00[ASN][1000 genomes]
rs71656870	1.00[ASN][1000 genomes]
rs74089618	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089619	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089674	1.00[ASN][1000 genomes]
rs7548991	1.00[YRI][hapmap]
rs9660848	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1795237	chr1:76268573-76383565	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1800125	chr1:76269439-76379497	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1799260	chr1:76269439-76383297	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1847721	chr1:76269439-76383565	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76262400-76282800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:76262600-76288800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:76262600-76294600	Weak transcription	Primary B cells from cord blood	blood
4	chr1:76263000-76287400	Weak transcription	Aorta	Aorta
5	chr1:76263000-76289000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:76263000-76296200	Weak transcription	Ovary	ovary
7	chr1:76263400-76289000	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:76263600-76284000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:76264200-76291400	Weak transcription	Psoas Muscle	Psoas
10	chr1:76264600-76288600	Weak transcription	Left Ventricle	heart
11	chr1:76264800-76288600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:76264800-76288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:76279600-76288600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:76279800-76280000	Active TSS	Sigmoid Colon	Sigmoid Colon

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