Variant report

Variant	rs2918952
Chromosome Location	chr15:44216740-44216741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr15:44216655-44216787	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44209238..44212710-chr15:44213931..44216790,3	K562	blood:
2	chr15:44170061..44171966-chr15:44216673..44218203,2	K562	blood:
3	chr15:44209238..44211799-chr15:44214318..44216790,2	K562	blood:

Variant related genes	Relation type
FRMD5	TF binding region
ENSG00000171877	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11853395	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12437804	0.81[TSI][hapmap]
rs1426658	0.81[TSI][hapmap]
rs1561458	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16948098	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16949992	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1820482	0.81[TSI][hapmap]
rs2412853	0.81[TSI][hapmap]
rs2412854	0.81[TSI][hapmap]
rs2623015	0.85[EUR][1000 genomes]
rs28654093	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28729677	0.83[EUR][1000 genomes]
rs2929275	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs2929277	0.83[EUR][1000 genomes]
rs2929279	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2929282	0.85[EUR][1000 genomes]
rs2930523	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2930524	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2930525	0.83[EUR][1000 genomes]
rs2930532	0.81[GIH][hapmap]
rs34497759	0.85[EUR][1000 genomes]
rs4270152	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs4321171	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs481837	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs483800	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.93[EUR][1000 genomes]
rs492571	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545119	0.97[EUR][1000 genomes]
rs56793082	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59561000	0.97[EUR][1000 genomes]
rs6493094	0.81[TSI][hapmap]
rs74009159	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74009160	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033233	0.81[TSI][hapmap]
rs8035382	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs8035402	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs8035689	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8038096	0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2918952	LOC440278	cis	multi-tissue	Pritchard

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44196400-44216800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:44198200-44217600	Weak transcription	Brain Germinal Matrix	brain
3	chr15:44206800-44217800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:44208000-44217800	Weak transcription	NHLF	lung
5	chr15:44208800-44222600	Weak transcription	Fetal Brain Female	brain
6	chr15:44211800-44221800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:44211800-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:44212400-44218000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:44212400-44220600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:44212400-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:44212600-44218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:44213000-44217600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:44213400-44217600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:44213400-44217800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:44213400-44217800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:44213400-44218400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:44213400-44221600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:44213600-44217800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:44213600-44218000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:44213600-44219800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr15:44213800-44217600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:44213800-44217800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:44214000-44217000	Weak transcription	NHDF-Ad	bronchial
24	chr15:44214000-44217600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:44214000-44221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:44214000-44224400	Weak transcription	Right Atrium	heart
27	chr15:44214200-44217800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:44214200-44217800	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:44214200-44218000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:44214200-44218200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr15:44214400-44218000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:44214400-44224000	Weak transcription	HSMMtube	muscle
33	chr15:44214600-44217000	Strong transcription	Brain Hippocampus Middle	brain
34	chr15:44214600-44217600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:44214800-44217800	Weak transcription	HMEC	breast
36	chr15:44215000-44218000	Weak transcription	NHEK	skin
37	chr15:44215200-44218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:44215400-44216800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:44215600-44216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:44215800-44221400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:44216000-44216800	Enhancers	Fetal Heart	heart
42	chr15:44216200-44218000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr15:44216400-44217800	Weak transcription	Brain Angular Gyrus	brain
44	chr15:44216400-44217800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:44216400-44217800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:44216400-44218600	Weak transcription	Brain Substantia Nigra	brain
47	chr15:44216400-44220600	Weak transcription	Brain Anterior Caudate	brain
48	chr15:44216600-44219800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:44216600-44222200	Weak transcription	NH-A	brain

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