Variant report

Variant	rs7073010
Chromosome Location	chr10:97440812-97440813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97440066..97441614-chr10:97451654..97455031,3	MCF-7	breast:
2	chr10:97438903..97441882-chr10:97445653..97448127,2	K562	blood:

Variant related genes	Relation type
ENSG00000119977	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10509686	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10882643	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10882644	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882649	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882650	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882671	0.83[AMR][1000 genomes]
rs11188394	0.83[ASN][1000 genomes]
rs11188396	0.90[AFR][1000 genomes]
rs11188398	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11188400	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11188404	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11188406	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188407	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188411	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188417	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188437	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11188444	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11188455	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11188464	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11188480	0.81[AMR][1000 genomes]
rs11188484	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11188489	0.81[AMR][1000 genomes]
rs11188501	0.83[AMR][1000 genomes]
rs11591779	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11592213	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11593044	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11593761	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11597321	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12354848	0.83[AMR][1000 genomes]
rs12357173	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12358481	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12359366	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17461546	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17462179	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17553401	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1891535	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1891536	0.82[AMR][1000 genomes]
rs2004611	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2017218	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2152916	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2296691	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2861151	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3176895	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3763707	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4037	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4258314	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4320886	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4417206	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4463786	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4568937	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4917697	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918951	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918955	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918966	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4918970	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4918972	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55801606	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56322409	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57347444	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61869573	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61869591	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61871790	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61871792	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61871793	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61871796	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs749050	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7917792	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7918339	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8758	0.93[AFR][1000 genomes];0.85[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7073010	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs7073010	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97416600-97441000	Weak transcription	Spleen	Spleen
2	chr10:97416800-97441600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:97416800-97442400	Weak transcription	Small Intestine	intestine
4	chr10:97416800-97443400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:97417000-97441000	Weak transcription	HSMMtube	muscle
6	chr10:97417000-97442400	Weak transcription	Aorta	Aorta
7	chr10:97417000-97444200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:97417000-97445200	Weak transcription	Colonic Mucosa	Colon
9	chr10:97417000-97445800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:97417000-97445800	Weak transcription	NHLF	lung
11	chr10:97417200-97441000	Weak transcription	Thymus	Thymus
12	chr10:97417200-97441800	Weak transcription	Brain Angular Gyrus	brain
13	chr10:97417200-97442400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:97417200-97444400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr10:97417200-97445800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr10:97421800-97441800	Weak transcription	Gastric	stomach
17	chr10:97423000-97452000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:97423600-97441000	Weak transcription	Lung	lung
19	chr10:97423600-97441800	Weak transcription	Esophagus	oesophagus
20	chr10:97424000-97448200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:97424400-97443200	Weak transcription	Pancreas	Pancrea
22	chr10:97427800-97452600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr10:97429600-97441200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:97430800-97441000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:97431800-97446800	Weak transcription	Fetal Heart	heart
26	chr10:97431800-97450600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:97431800-97451200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:97432000-97450800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:97432800-97452000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:97433000-97451800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr10:97433400-97447600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:97433400-97447600	Strong transcription	Adipose Nuclei	Adipose
33	chr10:97433400-97451400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:97433800-97452600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:97434000-97452000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr10:97434200-97452000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr10:97434400-97450600	Strong transcription	Dnd41	blood
38	chr10:97434400-97451000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr10:97434400-97451600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:97434400-97452200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr10:97434600-97450400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr10:97434600-97450800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr10:97434600-97451000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr10:97434600-97451600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr10:97434800-97446800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:97434800-97451800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr10:97434800-97451800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr10:97435000-97451200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr10:97435000-97452000	Strong transcription	Placenta	Placenta
50	chr10:97435600-97441600	Strong transcription	NH-A	brain

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