Variant report

Variant	rs12414244
Chromosome Location	chr10:97410873-97410874
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	chr10:97408761..97411732-chr10:97414860..97417411,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000059573	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10509688	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10882658	0.89[AFR][1000 genomes]
rs11188426	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11188427	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12414904	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12768006	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12769303	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12773566	0.95[ASN][1000 genomes]
rs12783226	0.89[AFR][1000 genomes]
rs1933164	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2485642	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3176894	0.83[AFR][1000 genomes]
rs34297443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35087577	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs476392	0.81[ASN][1000 genomes]
rs483920	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4918949	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4918959	0.89[AFR][1000 genomes]
rs4918965	0.84[AFR][1000 genomes]
rs561156	0.81[ASN][1000 genomes]
rs568401	0.81[ASN][1000 genomes]
rs7090916	0.89[AFR][1000 genomes]
rs72813744	0.81[AMR][1000 genomes];0.87[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12414244	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97364000-97411000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr10:97364800-97411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:97376400-97411400	Weak transcription	Psoas Muscle	Psoas
4	chr10:97376400-97415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:97376600-97415000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr10:97378600-97414200	Weak transcription	Fetal Heart	heart
7	chr10:97383000-97411200	Strong transcription	Placenta	Placenta
8	chr10:97386600-97411000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:97388800-97411000	Weak transcription	Fetal Brain Male	brain
10	chr10:97389600-97413200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:97389800-97413200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:97390000-97411200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr10:97394400-97411400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr10:97399800-97413600	Strong transcription	Dnd41	blood
15	chr10:97400000-97412600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:97400800-97411200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:97401000-97415200	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:97401200-97411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:97402200-97415200	Weak transcription	Right Ventricle	heart
20	chr10:97402600-97411000	Weak transcription	Thymus	Thymus
21	chr10:97402800-97411000	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:97402800-97411000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:97402800-97415200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:97403000-97411000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:97403000-97411000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:97403000-97411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:97403000-97411200	Weak transcription	Left Ventricle	heart
28	chr10:97403000-97414400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:97403000-97415400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:97404000-97411200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:97404000-97413800	Strong transcription	Fetal Muscle Leg	muscle
32	chr10:97404200-97411400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:97404200-97412600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr10:97404200-97413000	Strong transcription	HSMM	muscle
35	chr10:97404200-97413200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:97404400-97411000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:97404400-97413000	Strong transcription	NH-A	brain
38	chr10:97404400-97413200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr10:97404600-97412200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr10:97404600-97413800	Strong transcription	Fetal Stomach	stomach
41	chr10:97404800-97411400	Strong transcription	Liver	Liver
42	chr10:97404800-97415200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:97405400-97411400	Strong transcription	A549	lung
44	chr10:97405600-97411200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:97405600-97411200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:97405800-97411400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:97405800-97412800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr10:97406200-97411200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:97406200-97411200	Weak transcription	Lung	lung
50	chr10:97406200-97411600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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