Variant report

Variant	rs10913507
Chromosome Location	chr1:171666647-171666648
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171665381..171668263-chr1:171669803..171671698,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10753181	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10913511	0.80[EUR][1000 genomes]
rs10913514	0.80[EUR][1000 genomes]
rs10913578	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11578179	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11579698	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11580415	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12118409	0.84[ASN][1000 genomes]
rs12127026	0.81[EUR][1000 genomes]
rs16843230	0.93[EUR][1000 genomes]
rs16843251	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3753539	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6679354	0.81[EUR][1000 genomes]
rs7536436	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7536543	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10913507	VAMP4	cis	multi-tissue	Pritchard
rs10913507	VAMP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171664000-171668400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:171664200-171667600	Weak transcription	Left Ventricle	heart
3	chr1:171664400-171685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:171664600-171674400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:171664800-171668200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:171664800-171684800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:171665000-171669000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:171665000-171692000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:171665400-171674600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:171665600-171705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:171665600-171708800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:171665800-171666800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr1:171665800-171667400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:171666000-171667600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:171666000-171668200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:171666000-171668400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:171666000-171668400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:171666000-171669000	Strong transcription	Aorta	Aorta
19	chr1:171666000-171674200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:171666000-171676000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:171666000-171676600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:171666000-171685000	Weak transcription	Brain Germinal Matrix	brain
23	chr1:171666000-171705400	Weak transcription	Pancreas	Pancrea
24	chr1:171666200-171667600	Weak transcription	NHLF	lung
25	chr1:171666200-171670800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:171666200-171676000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:171666200-171682600	Weak transcription	Lung	lung
28	chr1:171666200-171684600	Weak transcription	Fetal Stomach	stomach
29	chr1:171666200-171684800	Weak transcription	Thymus	Thymus
30	chr1:171666400-171666800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:171666400-171668200	Weak transcription	Adipose Nuclei	Adipose
32	chr1:171666400-171673000	Weak transcription	Primary B cells from cord blood	blood
33	chr1:171666600-171668200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:171666600-171668400	Weak transcription	NHDF-Ad	bronchial
35	chr1:171666600-171676600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:171666600-171684800	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:171666600-171686200	Weak transcription	Gastric	stomach

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