Variant report

Variant	rs1361648
Chromosome Location	chr1:173317042-173317043
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	chr1:173316429-173317158	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr1:173316465-173317100	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000232751	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10399614	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804254	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1342033	0.87[CHB][hapmap]
rs1342034	0.87[CHB][hapmap]
rs1539256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539257	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547811	0.87[CHB][hapmap]
rs16845679	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845685	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845722	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16845795	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16845819	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1935325	0.87[CHB][hapmap]
rs1935331	0.87[CHB][hapmap]
rs1985177	0.87[CHB][hapmap]
rs2027500	0.87[CHB][hapmap]
rs2901719	0.87[CHB][hapmap]
rs4258254	0.85[CHB][hapmap]
rs4916334	0.87[CHB][hapmap]
rs4916335	0.87[CHB][hapmap]
rs4916336	0.87[CHB][hapmap]
rs55882207	0.95[EUR][1000 genomes]
rs56307807	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56309152	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6425221	0.87[CHB][hapmap]
rs6688438	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7548710	0.87[CHB][hapmap]
rs7550607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv523009	chr1:173305632-173324296	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173300600-173329200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:173301400-173321200	Weak transcription	Ovary	ovary
3	chr1:173309200-173324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:173311800-173334000	Weak transcription	HSMMtube	muscle
5	chr1:173315200-173333000	Weak transcription	Left Ventricle	heart
6	chr1:173315400-173318000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:173316000-173317200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:173316400-173317200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:173316600-173317200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:173316800-173317200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:173316800-173317200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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