Variant report

Variant	rs1978108
Chromosome Location	chr12:120102253-120102254
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	GATA1	chr12:120102148-120103994	K562	blood:	n/a	chr12:120103611-120103618 chr12:120103508-120103519 chr12:120103611-120103618 chr12:120103604-120103625 chr12:120103570-120103587 chr12:120103505-120103526 chr12:120103610-120103620 chr12:120103611-120103618

Variant related genes	Relation type
PRKAB1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10849688	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11064873	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs175878	0.83[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1978107	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs278123	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs278143	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs278144	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs278145	0.83[CEU][hapmap];0.91[EUR][1000 genomes]
rs278147	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs278148	0.84[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs278149	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs278151	0.83[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs278152	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs278154	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs278155	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3930004	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4213	0.83[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6490266	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6490267	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7304996	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7310266	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7960723	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7963248	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7967558	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7972600	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7979627	0.87[AMR][1000 genomes];0.99[EUR][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	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120098200-120102600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:120098400-120103600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:120098400-120103600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:120098400-120103600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:120098600-120103600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:120100400-120103600	Weak transcription	Spleen	Spleen
7	chr12:120100400-120105200	Weak transcription	Psoas Muscle	Psoas
8	chr12:120100600-120102800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:120100600-120104000	Weak transcription	HUVEC	blood vessel
10	chr12:120101000-120103000	Enhancers	K562	blood
11	chr12:120101400-120102400	Weak transcription	HepG2	liver
12	chr12:120101800-120104800	Weak transcription	Right Ventricle	heart
13	chr12:120102200-120105200	Weak transcription	Aorta	Aorta

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