Variant report

Variant	rs7570609
Chromosome Location	chr2:128289963-128289964
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128287640..128290325-chr2:128292446..128294500,2	MCF-7	breast:
2	chr2:128282966..128285789-chr2:128286423..128291685,6	MCF-7	breast:
3	chr2:128288604..128291477-chr2:128457748..128460860,3	MCF-7	breast:
4	chr2:128289324..128291170-chr2:128329795..128331725,2	MCF-7	breast:
5	chr2:128288386..128290312-chr2:128297591..128299207,2	MCF-7	breast:
6	chr2:128288901..128291485-chr2:128567885..128570400,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173349	Chromatin interaction
ENSG00000136709	Chromatin interaction
ENSG00000163166	Chromatin interaction
ENSG00000169994	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10190872	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.86[ASN][1000 genomes]
rs10206221	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12105107	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12621149	0.93[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs13395434	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13397441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399231	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13403811	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13415053	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549767	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs17015347	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs17015399	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs173013	0.80[ASN][1000 genomes]
rs17522960	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1897168	0.92[EUR][1000 genomes]
rs2078028	1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.86[ASN][1000 genomes]
rs2176595	0.93[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap]
rs2249646	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679402	0.84[ASN][1000 genomes]
rs2679407	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334139	1.00[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs334140	1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap]
rs334147	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs334148	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs334149	1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs334150	0.94[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.89[LWK][hapmap];0.86[YRI][hapmap];0.84[ASN][1000 genomes]
rs334153	0.84[ASN][1000 genomes]
rs334155	0.84[ASN][1000 genomes]
rs334162	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs3732208	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4423553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662582	0.87[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap]
rs56778078	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58462277	0.83[ASN][1000 genomes]
rs59870106	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59934067	0.84[ASN][1000 genomes]
rs6706355	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6707186	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6707425	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs6713317	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6722447	0.93[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6727506	0.81[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6731270	1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs6733422	0.92[EUR][1000 genomes]
rs6734816	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6743697	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6748790	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs72958594	0.84[ASN][1000 genomes]
rs72958600	0.84[ASN][1000 genomes]
rs7569931	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7572181	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576217	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs7598346	1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs7603777	0.88[ASN][1000 genomes]
rs777547	0.88[ASN][1000 genomes]
rs777549	0.88[ASN][1000 genomes]
rs777550	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs777551	0.88[ASN][1000 genomes]
rs777557	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap]
rs777558	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap]
rs777559	0.94[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.89[LWK][hapmap];0.86[YRI][hapmap]
rs777561	0.80[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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv2912	chr2:128281152-128307830	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7570609	MAP3K2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128284600-128321200	Weak transcription	Spleen	Spleen
2	chr2:128285200-128292200	Enhancers	Placenta	Placenta
3	chr2:128285400-128292000	Weak transcription	Colonic Mucosa	Colon
4	chr2:128285400-128306600	Weak transcription	Right Atrium	heart
5	chr2:128285600-128290000	Enhancers	Fetal Intestine Large	intestine
6	chr2:128286000-128292200	Weak transcription	Small Intestine	intestine
7	chr2:128287600-128290000	Enhancers	Fetal Intestine Small	intestine
8	chr2:128289000-128294400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:128289200-128293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:128289400-128291600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:128289800-128290400	Enhancers	Duodenum Mucosa	Duodenum

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