Variant report

Variant	rs17103913
Chromosome Location	chr14:67554120-67554121
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	chr14:67551962..67554191-chr14:67556025..67558378,2	K562	blood:
2	chr14:67551144..67554191-chr14:67555429..67558378,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10083467	0.92[EUR][1000 genomes]
rs10083471	0.92[EUR][1000 genomes]
rs10130606	0.92[EUR][1000 genomes]
rs10136835	0.92[EUR][1000 genomes]
rs10141049	0.92[EUR][1000 genomes]
rs10141378	0.92[EUR][1000 genomes]
rs10144069	0.92[EUR][1000 genomes]
rs10145458	1.00[CEU][hapmap];0.87[YRI][hapmap];0.92[EUR][1000 genomes]
rs10147356	1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs10150612	0.92[EUR][1000 genomes]
rs12323823	0.92[EUR][1000 genomes]
rs13379190	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs13379426	0.92[EUR][1000 genomes]
rs17104018	0.92[EUR][1000 genomes]
rs28410937	0.92[EUR][1000 genomes]
rs28436247	0.92[EUR][1000 genomes]
rs28503899	0.92[EUR][1000 genomes]
rs28790342	0.92[EUR][1000 genomes]
rs35236021	0.92[EUR][1000 genomes]
rs61410439	0.92[EUR][1000 genomes]
rs7144147	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs7154820	0.92[EUR][1000 genomes]
rs7156177	0.82[EUR][1000 genomes]
rs7342569	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs74056520	0.92[EUR][1000 genomes]
rs74056533	0.92[EUR][1000 genomes]
rs74056540	0.92[EUR][1000 genomes]
rs74056542	0.92[EUR][1000 genomes]
rs8013980	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs8014465	0.92[EUR][1000 genomes]
rs8016480	0.92[EUR][1000 genomes]
rs8020041	1.00[AMR][1000 genomes]
rs8021740	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1841498	chr14:67434470-67634318	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17103913	PPP4R4	trans	lymphoblastoid	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67511600-67556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67534800-67576400	Weak transcription	Pancreas	Pancrea
3	chr14:67545200-67555400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:67545200-67569600	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:67545200-67569800	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:67545200-67570400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:67545400-67572000	Weak transcription	Brain Substantia Nigra	brain
8	chr14:67545600-67558200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:67548400-67590200	Weak transcription	Esophagus	oesophagus
10	chr14:67548800-67567400	Weak transcription	Left Ventricle	heart
11	chr14:67549200-67562000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:67549200-67570800	Weak transcription	Psoas Muscle	Psoas
13	chr14:67549400-67561600	Weak transcription	Adipose Nuclei	Adipose
14	chr14:67549400-67569600	Weak transcription	Brain Anterior Caudate	brain
15	chr14:67549600-67568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:67549600-67569600	Weak transcription	Aorta	Aorta
17	chr14:67549800-67554600	Weak transcription	Fetal Lung	lung
18	chr14:67550200-67571200	Weak transcription	Dnd41	blood
19	chr14:67551000-67589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:67551200-67568800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:67551600-67555400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:67551600-67555400	Weak transcription	Liver	Liver
23	chr14:67552600-67558000	Weak transcription	Primary T cells from cord blood	blood
24	chr14:67553600-67569400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:67553800-67569400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:67554000-67554200	ZNF genes & repeats	GM12878-XiMat	blood
27	chr14:67554000-67554600	Enhancers	Primary B cells from peripheral blood	blood
28	chr14:67554000-67555000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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