Variant report

Variant	rs74090744
Chromosome Location	chr1:76233190-76233191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76225609..76234140-chr1:76249320..76256385,15	K562	blood:
2	chr1:76225579..76234839-chr1:76250485..76256385,12	K562	blood:
3	chr1:76231785..76234506-chr1:76257045..76259651,2	K562	blood:

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

Extended variants
information (count: 71 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10465725	1.00[EUR][1000 genomes]
rs11161872	0.82[EUR][1000 genomes]
rs1144329	0.92[EUR][1000 genomes]
rs1146603	0.92[EUR][1000 genomes]
rs1146605	0.92[EUR][1000 genomes]
rs1146606	0.92[EUR][1000 genomes]
rs1146608	0.92[EUR][1000 genomes]
rs1146611	0.92[EUR][1000 genomes]
rs1146612	0.92[EUR][1000 genomes]
rs1146614	0.92[EUR][1000 genomes]
rs1146615	0.92[EUR][1000 genomes]
rs1146618	0.92[EUR][1000 genomes]
rs1146619	0.92[EUR][1000 genomes]
rs1146620	0.92[EUR][1000 genomes]
rs1146622	0.92[EUR][1000 genomes]
rs1146624	0.92[EUR][1000 genomes]
rs1146628	0.92[EUR][1000 genomes]
rs1146629	0.92[EUR][1000 genomes]
rs1146641	0.92[EUR][1000 genomes]
rs12074938	1.00[EUR][1000 genomes]
rs12079065	1.00[EUR][1000 genomes]
rs12079211	1.00[EUR][1000 genomes]
rs12079950	0.82[EUR][1000 genomes]
rs12081631	1.00[EUR][1000 genomes]
rs12093817	0.92[EUR][1000 genomes]
rs12094698	0.92[EUR][1000 genomes]
rs13376397	1.00[EUR][1000 genomes]
rs17097567	1.00[EUR][1000 genomes]
rs17097707	0.82[EUR][1000 genomes]
rs17097710	1.00[EUR][1000 genomes]
rs55781251	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55977041	1.00[EUR][1000 genomes]
rs56036152	0.80[AMR][1000 genomes]
rs56069207	0.80[AMR][1000 genomes]
rs56322662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364153	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57443433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5745309	1.00[EUR][1000 genomes]
rs5745418	1.00[EUR][1000 genomes]
rs57798497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58125729	1.00[EUR][1000 genomes]
rs59723961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59932454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60219146	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60630670	0.80[AMR][1000 genomes]
rs60871503	0.80[AMR][1000 genomes]
rs61124994	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61612438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74088936	0.80[AMR][1000 genomes]
rs74088996	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74088997	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74088999	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090705	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7512465	1.00[EUR][1000 genomes]
rs7544911	0.84[EUR][1000 genomes]
rs815310	0.82[EUR][1000 genomes]
rs815311	0.82[EUR][1000 genomes]
rs9970840	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv2763563	chr1:76229839-76245374	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:76221400-76233200	Weak transcription	Brain Anterior Caudate	brain
3	chr1:76221600-76234200	Weak transcription	Thymus	Thymus
4	chr1:76222000-76233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:76222000-76233800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:76222000-76236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:76222000-76237000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:76223800-76236600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:76227400-76249800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:76227800-76233200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:76227800-76239600	Weak transcription	GM12878-XiMat	blood
12	chr1:76228200-76233600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:76228800-76233600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:76230000-76234600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:76230400-76234200	Weak transcription	Primary B cells from cord blood	blood
16	chr1:76231600-76234600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:76232000-76233200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:76232200-76233400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:76232200-76233800	Weak transcription	NH-A	brain
20	chr1:76232200-76233800	Weak transcription	NHEK	skin
21	chr1:76232400-76233400	Weak transcription	HSMM	muscle
22	chr1:76232400-76233800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:76232400-76233800	Weak transcription	HUVEC	blood vessel
24	chr1:76232600-76233200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:76232800-76233800	Weak transcription	HMEC	breast
26	chr1:76232800-76236600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:76232800-76243200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:76233000-76234400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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