Variant report

Variant	rs10801154
Chromosome Location	chr1:192764054-192764055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:192763576-192764233	SK-N-SH	brain:	n/a	n/a
2	NANOG	chr1:192763907-192764086	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192762496..192765465-chr1:192982382..192985012,2	K562	blood:

Variant related genes	Relation type
ENSG00000228687	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10737617	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10737618	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10754031	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10801151	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10801152	0.81[CEU][hapmap];0.97[EUR][1000 genomes]
rs10801153	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801156	0.93[EUR][1000 genomes]
rs10801157	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10801158	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10921264	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10921265	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10921267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921268	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11586572	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12565835	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1418718	0.91[CEU][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs16834851	0.95[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1819741	0.91[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1933694	0.87[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2746071	0.91[CEU][hapmap];0.88[GIH][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs2746072	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2746073	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3856223	0.97[ASN][1000 genomes]
rs4128057	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6428136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669632	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6670129	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6670801	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6670806	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6684156	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6703040	0.83[CHD][hapmap];0.89[GIH][hapmap]
rs7525778	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546861	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549721	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192757800-192765200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:192762000-192770000	Weak transcription	Fetal Lung	lung
3	chr1:192762600-192764800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr1:192762600-192765400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:192762600-192766200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:192762800-192764800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:192762800-192765000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:192762800-192765400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:192763000-192769000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:192763400-192764200	Weak transcription	Left Ventricle	heart
11	chr1:192763400-192764800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:192763400-192765000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:192763600-192765600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:192763800-192764600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:192763800-192765600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:192764000-192764400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:192764000-192764400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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