Variant report

Variant	rs2039925
Chromosome Location	chr1:226610512-226610513
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226609464..226612085-chr1:226615712..226618543,2	K562	blood:
2	chr1:226609245..226612312-chr1:226736559..226739618,3	MCF-7	breast:
3	chr1:226609091..226612085-chr1:226615712..226618543,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10915994	0.82[CHB][hapmap]
rs1136410	1.00[ASW][hapmap];0.83[CHB][hapmap];0.86[GIH][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs12143101	0.85[CHB][hapmap];0.80[AMR][1000 genomes]
rs1317170	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1433574	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1527363	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1527365	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805404	1.00[ASW][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.86[AMR][1000 genomes]
rs1805411	0.86[ASW][hapmap];0.86[GIH][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes]
rs1805415	0.81[AMR][1000 genomes]
rs1946626	0.82[ASN][1000 genomes]
rs2027440	0.86[ASW][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes]
rs2048425	0.81[AMR][1000 genomes]
rs2117114	0.86[ASW][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes]
rs2249731	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2255403	0.81[AMR][1000 genomes]
rs2271349	0.81[AMR][1000 genomes]
rs2377312	0.81[AMR][1000 genomes]
rs2570367	0.86[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2695242	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2695243	0.88[AMR][1000 genomes]
rs2793379	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2793381	0.81[AMR][1000 genomes]
rs2793658	0.86[AMR][1000 genomes]
rs3219065	0.81[AMR][1000 genomes]
rs3219082	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3219104	0.80[AMR][1000 genomes]
rs4653448	0.92[ASN][1000 genomes]
rs4653449	0.88[ASN][1000 genomes]
rs4653737	0.92[ASN][1000 genomes]
rs56033994	0.80[AMR][1000 genomes]
rs752307	0.83[CHB][hapmap]
rs7550686	0.82[ASN][1000 genomes]
rs907187	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs907188	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs907190	0.81[AMR][1000 genomes]
rs907191	0.81[AMR][1000 genomes]
rs907193	0.81[AMR][1000 genomes]
rs932002	0.82[AMR][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	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226596200-226622600	Weak transcription	Right Atrium	heart
2	chr1:226602800-226616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226606000-226616200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:226606200-226612000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:226606200-226616000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:226607400-226612000	Weak transcription	Fetal Brain Male	brain
7	chr1:226607400-226614200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:226607600-226612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:226607600-226612000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:226608200-226612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:226608400-226616200	Weak transcription	Fetal Brain Female	brain
12	chr1:226608600-226612400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:226608600-226612400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:226608800-226612400	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:226608800-226613200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:226609000-226612200	Weak transcription	Brain Substantia Nigra	brain

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