Variant report

Variant	rs7175967
Chromosome Location	chr15:31297181-31297182
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:31281475..31285433-chr15:31293926..31297603,3	K562	blood:
2	chr15:31283942..31285617-chr15:31294497..31297263,2	MCF-7	breast:
3	chr15:31282443..31284483-chr15:31294719..31297603,2	K562	blood:

Variant related genes	Relation type
ENSG00000166912	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11070718	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1133642	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11638295	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12439664	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12901022	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12905872	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12913397	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12914207	0.84[ASN][1000 genomes]
rs12914438	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1404468	0.84[ASN][1000 genomes]
rs1404469	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1404470	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1425291	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1524876	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1880499	0.87[ASN][1000 genomes]
rs2113946	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28564430	0.90[ASN][1000 genomes]
rs2949573	0.84[ASN][1000 genomes]
rs2949577	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2955783	0.87[ASN][1000 genomes]
rs2959049	0.87[ASN][1000 genomes]
rs3743233	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4344701	0.84[ASN][1000 genomes]
rs58083498	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493387	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493388	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7164939	0.84[ASN][1000 genomes]
rs7170710	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8040989	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs964925	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv832952	chr15:31204426-31333998	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7175967	RP11-540B6.3	cis	lung	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31291800-31308000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:31293600-31298400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:31294600-31298600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:31295600-31297200	Enhancers	Spleen	Spleen
5	chr15:31295600-31297800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:31295800-31297200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr15:31296000-31297200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:31296000-31298000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr15:31296000-31298200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr15:31296200-31297200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr15:31296200-31297200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:31296200-31297800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr15:31296400-31297200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr15:31296400-31298200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:31296600-31298000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr15:31296600-31299000	Enhancers	Primary B cells from cord blood	blood
17	chr15:31296600-31299000	Enhancers	Primary B cells from peripheral blood	blood
18	chr15:31296600-31304200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:31296800-31297400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:31296800-31297600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:31296800-31297800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:31296800-31297800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr15:31296800-31297800	Enhancers	Primary hematopoietic stem cells	blood
24	chr15:31296800-31298200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr15:31296800-31300200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr15:31296800-31306200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:31297000-31297200	Enhancers	Right Ventricle	heart
28	chr15:31297000-31297600	Enhancers	GM12878-XiMat	blood
29	chr15:31297000-31297800	Enhancers	HUVEC	blood vessel
30	chr15:31297000-31302200	Weak transcription	HMEC	breast

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