Variant report

Variant	rs7694402
Chromosome Location	chr4:110510080-110510081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110509145..110511700-chr4:110513423..110515764,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10005056	0.81[EUR][1000 genomes]
rs11939571	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11942332	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11943263	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11943264	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12640500	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28748067	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28790296	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3212153	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs4698779	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs56218711	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57590851	0.90[AMR][1000 genomes]
rs58419791	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59646325	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60434260	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6851009	0.94[CEU][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72674817	0.81[EUR][1000 genomes]
rs739733	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs7676232	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692056	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7699921	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9991035	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7694402	AGXT2L1	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110496400-110510200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:110504200-110513000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr4:110504600-110510400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:110507000-110513200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr4:110507200-110512800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr4:110507400-110512200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr4:110508000-110512800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:110508000-110515400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr4:110508400-110512200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:110508400-110513400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr4:110508800-110510800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:110508800-110523200	Weak transcription	Primary B cells from cord blood	blood
13	chr4:110509000-110510800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:110509000-110511000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:110509200-110510200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:110509200-110510600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:110509200-110510800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr4:110509200-110511200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:110509400-110510200	Enhancers	NHEK	skin
20	chr4:110509400-110510400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:110509400-110511000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:110509400-110512000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:110509400-110512800	Enhancers	Primary T cells from cord blood	blood
24	chr4:110509600-110510400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:110509600-110510400	Weak transcription	Spleen	Spleen
26	chr4:110509600-110510800	Enhancers	GM12878-XiMat	blood
27	chr4:110509600-110511000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:110509800-110510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:110509800-110511200	Enhancers	Placenta	Placenta
30	chr4:110510000-110510400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:110510000-110511200	Enhancers	Thymus	Thymus

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