Variant report

Variant	rs1604719
Chromosome Location	chr4:127716119-127716120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127715948..127718390-chr4:127719947..127721620,2	K562	blood:
2	chr4:127694329..127698868-chr4:127713362..127717264,4	K562	blood:
3	chr4:127694347..127698453-chr4:127713165..127717264,5	K562	blood:
4	chr4:127656968..127658978-chr4:127715572..127717474,3	K562	blood:
5	chr4:127711334..127714117-chr4:127715657..127719809,4	K562	blood:
6	chr1:194308962..194311330-chr4:127715408..127718280,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1014773	1.00[ASN][1000 genomes]
rs10461207	0.87[ASN][1000 genomes]
rs10857116	0.89[ASN][1000 genomes]
rs10857117	1.00[ASN][1000 genomes]
rs11098891	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11098892	1.00[ASN][1000 genomes]
rs11098893	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098896	0.87[ASN][1000 genomes]
rs11098898	0.87[ASN][1000 genomes]
rs1157308	1.00[ASN][1000 genomes]
rs1167190	0.87[ASN][1000 genomes]
rs11935382	0.87[ASN][1000 genomes]
rs11940501	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941222	0.87[ASN][1000 genomes]
rs12163770	1.00[ASN][1000 genomes]
rs12503440	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504330	0.87[ASN][1000 genomes]
rs12507115	0.87[ASN][1000 genomes]
rs12647109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650177	1.00[ASN][1000 genomes]
rs13111309	0.87[ASN][1000 genomes]
rs13112652	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13143010	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13148138	1.00[ASN][1000 genomes]
rs13152826	1.00[ASN][1000 genomes]
rs1393991	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1503604	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503605	0.87[ASN][1000 genomes]
rs1503606	0.87[ASN][1000 genomes]
rs1503608	0.87[ASN][1000 genomes]
rs1503610	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503611	0.87[ASN][1000 genomes]
rs1503614	0.87[ASN][1000 genomes]
rs1503631	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532768	0.87[ASN][1000 genomes]
rs1587744	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1604724	0.87[ASN][1000 genomes]
rs17011528	0.87[ASN][1000 genomes]
rs17203028	0.87[ASN][1000 genomes]
rs1875740	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948827	0.87[ASN][1000 genomes]
rs1955281	1.00[ASN][1000 genomes]
rs1976483	0.87[ASN][1000 genomes]
rs2013778	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013864	0.87[ASN][1000 genomes]
rs2089061	0.87[ASN][1000 genomes]
rs2134641	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134645	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2174184	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391099	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28666008	0.87[ASN][1000 genomes]
rs28742896	0.87[ASN][1000 genomes]
rs28811377	0.87[ASN][1000 genomes]
rs28876486	0.87[ASN][1000 genomes]
rs2893192	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834142	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55791209	0.87[ASN][1000 genomes]
rs62324217	0.87[ASN][1000 genomes]
rs6534583	0.87[ASN][1000 genomes]
rs6812442	1.00[ASN][1000 genomes]
rs6829454	0.87[ASN][1000 genomes]
rs6830097	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848985	0.87[ASN][1000 genomes]
rs6856064	0.87[ASN][1000 genomes]
rs7654869	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672155	0.87[ASN][1000 genomes]
rs7676848	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7681140	0.87[ASN][1000 genomes]
rs7686181	0.87[ASN][1000 genomes]
rs7691822	0.87[ASN][1000 genomes]
rs7694861	0.87[ASN][1000 genomes]
rs7696445	0.87[ASN][1000 genomes]
rs7696767	0.87[ASN][1000 genomes]
rs969315	0.87[ASN][1000 genomes]
rs986907	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879908	chr4:127646765-127749390	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv818269	chr4:127700428-127727154	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv879912	chr4:127706053-127775563	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1604719	SLC25A31	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127712200-127720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:127715200-127716200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:127715200-127716400	Enhancers	NHEK	skin
4	chr4:127715600-127720600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:127715800-127720400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:127715800-127720600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:127715800-127721000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:127715800-127721000	Weak transcription	Fetal Heart	heart
9	chr4:127716000-127716200	Flanking Active TSS	K562	blood
10	chr4:127716000-127756000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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