Variant report

Variant	rs3763707
Chromosome Location	chr10:97417174-97417175
allele	C/T
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	HCFC1	chr10:97415847-97417480	Hela-S3	cervix:	n/a	n/a
2	NFIC	chr10:97415658-97417252	ECC-1	luminal epithelium:	n/a	n/a
3	MXI1	chr10:97415061-97417337	IMR90	lung:	n/a	chr10:97416598-97416607
4	EP300	chr10:97415560-97417288	ECC-1	luminal epithelium:	n/a	chr10:97415929-97415945
5	MAZ	chr10:97415261-97417454	IMR90	lung:	n/a	chr10:97416665-97416674 chr10:97416522-97416531
6	SRF	chr10:97416110-97417209	ECC-1	luminal epithelium:	n/a	chr10:97416930-97416943 chr10:97416930-97416943

No.	Distal block	Cell Line	Cell type
1	chr10:97417025..97421162-chr10:97421538..97425770,6	K562	blood:
2	chr10:97416659..97418930-chr10:97452318..97454871,2	K562	blood:
3	chr10:97416514..97418290-chr10:97425335..97427800,2	MCF-7	breast:

Variant related genes	Relation type
ALDH18A1	TF binding region
ENSG00000119977	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10882643	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10882644	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882649	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882650	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188393	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188394	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188396	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11188398	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188400	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11188404	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188406	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188407	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188411	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188417	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188437	0.84[EUR][1000 genomes]
rs11188444	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11188455	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11188464	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11591779	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11592213	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11593044	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11597321	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12357173	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12358481	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12359272	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12359366	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17461546	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17462179	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17553401	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1891535	0.84[ASN][1000 genomes]
rs2004611	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2017218	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2152916	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2296691	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3176895	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4037	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4258314	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4320886	0.84[AMR][1000 genomes]
rs4417206	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4568937	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4917697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918955	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918966	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs55801606	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56322409	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57347444	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61869573	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61871790	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61871792	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61871793	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61871796	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072953	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7073010	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749050	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7917792	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7918339	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8758	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[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	nsv526180	chr10:97332195-97511037	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3763707	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL
rs3763707	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs3763707	ENTPD1	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97414600-97417200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:97415200-97417200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:97415200-97417200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr10:97415200-97417200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr10:97415200-97417200	Active TSS	Rectal Smooth Muscle	rectum
6	chr10:97415400-97417200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:97415400-97417200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:97415400-97417200	Active TSS	Brain Angular Gyrus	brain
9	chr10:97415600-97417200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:97415600-97417200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr10:97415600-97417200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr10:97415600-97417200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr10:97415600-97417200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr10:97415600-97417200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:97415600-97417200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr10:97415600-97417200	Active TSS	Duodenum Mucosa	Duodenum
17	chr10:97415600-97417200	Active TSS	Osteobl	bone
18	chr10:97415800-97417200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:97415800-97417200	Active TSS	Brain Anterior Caudate	brain
20	chr10:97415800-97417200	Active TSS	Brain Germinal Matrix	brain
21	chr10:97415800-97417200	Active TSS	Fetal Lung	lung
22	chr10:97415800-97417400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr10:97416000-97417200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:97416400-97417200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:97416400-97417200	Enhancers	Fetal Heart	heart
26	chr10:97416400-97417200	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr10:97416600-97417200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr10:97416600-97417200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr10:97416600-97417200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:97416600-97417200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr10:97416600-97417200	Flanking Active TSS	Dnd41	blood
32	chr10:97416600-97417200	Flanking Active TSS	GM12878-XiMat	blood
33	chr10:97416600-97417200	Flanking Active TSS	NHEK	skin
34	chr10:97416600-97441000	Weak transcription	Spleen	Spleen
35	chr10:97416800-97417200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:97416800-97417200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr10:97416800-97417200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:97416800-97417200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr10:97416800-97417200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:97416800-97417200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr10:97416800-97417200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:97416800-97417200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:97416800-97417200	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr10:97416800-97417200	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr10:97416800-97417200	Flanking Active TSS	HepG2	liver
46	chr10:97416800-97417400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr10:97416800-97417400	Flanking Active TSS	Hela-S3	cervix
48	chr10:97416800-97421600	Weak transcription	Gastric	stomach
49	chr10:97416800-97423000	Weak transcription	Lung	lung
50	chr10:97416800-97423000	Weak transcription	Placenta Amnion	Placenta Amnion

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