Variant report

Variant	rs749377
Chromosome Location	chr10:49761403-49761404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49755429..49757315-chr10:49758822..49761538,2	K562	blood:
2	chr10:49761230..49763552-chr10:49773026..49775938,2	K562	blood:
3	chr10:49760107..49762474-chr10:49763848..49765679,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1015921	0.88[GIH][hapmap];0.88[JPT][hapmap];0.81[MKK][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs10458722	0.95[ASN][1000 genomes]
rs10458723	0.95[ASN][1000 genomes]
rs10458724	0.88[ASN][1000 genomes]
rs10458725	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10458726	0.88[JPT][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs10491041	0.88[GIH][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs10491042	0.88[GIH][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs10776618	0.81[GIH][hapmap];0.88[ASN][1000 genomes]
rs10776619	0.95[ASN][1000 genomes]
rs10776620	0.95[ASN][1000 genomes]
rs10776621	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs10857599	0.95[ASN][1000 genomes]
rs11101355	0.89[CHB][hapmap]
rs11101357	0.89[CHB][hapmap]
rs11101385	0.88[JPT][hapmap]
rs11101387	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs1348633	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1445166	0.95[ASN][1000 genomes]
rs1579818	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[ASN][1000 genomes]
rs1814469	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1814478	0.88[GIH][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs1822863	0.95[ASN][1000 genomes]
rs1838576	0.88[GIH][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs1867589	0.88[ASN][1000 genomes]
rs1900023	0.90[ASN][1000 genomes]
rs2014513	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs2120905	0.81[GIH][hapmap];0.88[ASN][1000 genomes]
rs2166225	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs2166227	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3853764	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs3853766	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs3867454	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs3867455	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs3905490	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs3925980	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs3954086	0.93[ASN][1000 genomes]
rs4101281	0.88[GIH][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs4838426	0.90[ASN][1000 genomes]
rs4838626	0.88[GIH][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs4989810	0.95[ASN][1000 genomes]
rs4989811	0.92[ASN][1000 genomes]
rs61211884	0.95[ASN][1000 genomes]
rs7068812	0.95[ASN][1000 genomes]
rs7078307	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs7085475	0.95[ASN][1000 genomes]
rs7096053	0.81[CHD][hapmap]
rs7358030	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs7358032	0.88[GIH][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs7358134	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs7358135	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs7907189	0.88[JPT][hapmap]
rs7911176	0.95[ASN][1000 genomes]
rs7911247	0.89[CHB][hapmap]
rs7915233	0.89[CHB][hapmap]
rs7919818	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs935295	0.95[ASN][1000 genomes]
rs935296	0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs935297	0.88[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs749377	WFDC8	trans	parietal	SCAN
rs749377	FRMPD2	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49734400-49762400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:49739400-49762400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:49742600-49774800	Weak transcription	Aorta	Aorta
4	chr10:49751200-49771600	Weak transcription	Pancreas	Pancrea
5	chr10:49753400-49764400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:49755000-49761800	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:49757400-49761600	Enhancers	HUVEC	blood vessel
8	chr10:49757400-49782200	Weak transcription	HSMMtube	muscle
9	chr10:49758200-49762400	Weak transcription	Right Atrium	heart
10	chr10:49758400-49762200	Weak transcription	HMEC	breast
11	chr10:49758600-49762000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:49759200-49770400	Weak transcription	NH-A	brain
13	chr10:49759400-49763800	Enhancers	Brain Substantia Nigra	brain
14	chr10:49759800-49761800	Enhancers	Brain Hippocampus Middle	brain
15	chr10:49759800-49763600	Enhancers	Brain Cingulate Gyrus	brain
16	chr10:49759800-49764200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr10:49760200-49761800	Weak transcription	NHDF-Ad	bronchial
18	chr10:49760200-49764600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr10:49760400-49762200	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:49760600-49762000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:49760600-49762200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:49760600-49762400	Weak transcription	Right Ventricle	heart
23	chr10:49760800-49762000	Weak transcription	Brain Angular Gyrus	brain
24	chr10:49760800-49762200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:49760800-49762200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:49760800-49762400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:49760800-49765000	Strong transcription	NHLF	lung
28	chr10:49760800-49765400	Strong transcription	HSMM	muscle
29	chr10:49760800-49765600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr10:49760800-49768800	Weak transcription	Ovary	ovary
31	chr10:49761000-49761600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr10:49761000-49762000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:49761000-49764800	Strong transcription	Osteobl	bone
34	chr10:49761000-49765400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:49761200-49762000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr10:49761400-49761800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr10:49761400-49762800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:49761400-49764400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:49761400-49765600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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