Variant report

Variant	rs7895976
Chromosome Location	chr10:97389101-97389102
allele	G/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	POLR2A	chr10:97388733-97389108	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:97389061-97389185	HepG2	liver:	n/a	n/a
3	STAT3	chr10:97389050-97389383	MCF10A-Er-Src	breast:	n/a	chr10:97389335-97389343
4	POLR2A	chr10:97389028-97389228	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ALDH18A1	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10509689	0.83[EUR][1000 genomes]
rs10882639	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10882645	0.85[AFR][1000 genomes]
rs10882647	0.80[YRI][hapmap];0.80[AFR][1000 genomes]
rs11188374	0.81[ASN][1000 genomes]
rs11188385	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11188395	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188402	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188416	0.85[AFR][1000 genomes]
rs12244124	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs12251664	0.80[AFR][1000 genomes]
rs12267876	0.80[AFR][1000 genomes]
rs1268608	0.88[AFR][1000 genomes]
rs17110981	0.80[EUR][1000 genomes]
rs17110984	0.80[EUR][1000 genomes]
rs17110999	0.82[EUR][1000 genomes]
rs2986401	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs3793749	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs3829157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501819	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs507017	0.82[AFR][1000 genomes]
rs535449	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs56055942	0.82[EUR][1000 genomes]
rs56085433	0.80[EUR][1000 genomes]
rs56193579	0.82[EUR][1000 genomes]
rs56397888	0.80[ASN][1000 genomes]
rs6584009	0.81[ASN][1000 genomes]
rs7069943	0.88[AFR][1000 genomes]
rs7072291	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7076303	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085474	0.81[ASN][1000 genomes]
rs7089081	0.82[EUR][1000 genomes]
rs73327043	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73327044	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749049	0.86[JPT][hapmap]
rs7895441	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs7897091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7899286	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7906450	0.90[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7921467	0.80[ASN][1000 genomes]
rs9663413	0.90[YRI][hapmap];0.85[AFR][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
rs7895976	ENTPD1	cis	multi-tissue	Pritchard
rs7895976	ENTPD1	cis	Lymphoblastoid	GTEx
rs7895976	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97364000-97409200	Strong transcription	Primary T cells from cord blood	blood
2	chr10:97364000-97411000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:97364400-97403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:97364800-97403400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr10:97364800-97411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:97365000-97403000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:97365000-97403400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:97368400-97393000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr10:97376200-97400600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:97376400-97411400	Weak transcription	Psoas Muscle	Psoas
11	chr10:97376400-97415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:97376600-97415000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:97378200-97391800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:97378600-97414200	Weak transcription	Fetal Heart	heart
15	chr10:97379800-97403200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:97380200-97399200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:97380200-97403200	Strong transcription	Fetal Muscle Leg	muscle
18	chr10:97380200-97403400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:97380200-97408800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:97380600-97403000	Strong transcription	NH-A	brain
21	chr10:97380600-97403200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:97380600-97403200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:97380600-97408000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:97380800-97409000	Strong transcription	Osteobl	bone
25	chr10:97381000-97391600	Weak transcription	Brain Angular Gyrus	brain
26	chr10:97381200-97403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:97381400-97393000	Weak transcription	Thymus	Thymus
28	chr10:97381600-97403000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:97382200-97390600	Weak transcription	NHEK	skin
30	chr10:97382800-97389200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:97383000-97411200	Strong transcription	Placenta	Placenta
32	chr10:97383200-97403000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr10:97383400-97398800	Strong transcription	Dnd41	blood
34	chr10:97383400-97400200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr10:97383400-97403000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:97383600-97389200	Strong transcription	Aorta	Aorta
37	chr10:97383800-97389400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr10:97383800-97390800	Strong transcription	Ovary	ovary
39	chr10:97383800-97394800	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr10:97383800-97395400	Strong transcription	HSMMtube	muscle
41	chr10:97383800-97397000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr10:97383800-97403000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:97383800-97403000	Strong transcription	Fetal Brain Female	brain
44	chr10:97383800-97403200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:97383800-97403200	Strong transcription	GM12878-XiMat	blood
46	chr10:97383800-97409400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr10:97383800-97410200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr10:97384000-97389400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:97384000-97389600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr10:97384000-97389800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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