Variant report

Variant	rs3818833
Chromosome Location	chr10:97442308-97442309
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	chr10:97442239..97445015-chr10:97451995..97453774,2	K562	blood:
2	chr10:97437393..97439419-chr10:97441061..97443059,2	K562	blood:

Variant related genes	Relation type
ENSG00000119977	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11188367	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs11188382	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188383	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188388	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11188391	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11188405	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11188410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11188412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188413	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188419	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188423	0.88[JPT][hapmap]
rs11188424	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11188431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188433	0.88[JPT][hapmap]
rs11188448	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188450	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188451	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188461	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11188466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11188467	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11188469	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11188475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11188479	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188481	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188491	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188502	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188508	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11553577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354465	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12355114	0.84[AMR][1000 genomes]
rs12357211	0.92[EUR][1000 genomes]
rs12357513	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12358517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12784530	0.88[JPT][hapmap]
rs2275760	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2282305	0.88[JPT][hapmap]
rs3176882	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs3181121	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41291576	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4420188	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56747025	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58059905	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58169787	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60144080	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61587319	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61731067	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61736814	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7070507	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7073937	1.00[JPT][hapmap]
rs7090630	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7093453	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7100644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73315224	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73329287	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73331134	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73333021	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7893577	1.00[CHB][hapmap]

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
rs3818833	ENTPD1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97416800-97442400	Weak transcription	Small Intestine	intestine
2	chr10:97416800-97443400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:97417000-97442400	Weak transcription	Aorta	Aorta
4	chr10:97417000-97444200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:97417000-97445200	Weak transcription	Colonic Mucosa	Colon
6	chr10:97417000-97445800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:97417000-97445800	Weak transcription	NHLF	lung
8	chr10:97417200-97442400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:97417200-97444400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr10:97417200-97445800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr10:97423000-97452000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:97424000-97448200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:97424400-97443200	Weak transcription	Pancreas	Pancrea
14	chr10:97427800-97452600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr10:97431800-97446800	Weak transcription	Fetal Heart	heart
16	chr10:97431800-97450600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:97431800-97451200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:97432000-97450800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:97432800-97452000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:97433000-97451800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr10:97433400-97447600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:97433400-97447600	Strong transcription	Adipose Nuclei	Adipose
23	chr10:97433400-97451400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:97433800-97452600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:97434000-97452000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:97434200-97452000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:97434400-97450600	Strong transcription	Dnd41	blood
28	chr10:97434400-97451000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr10:97434400-97451600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:97434400-97452200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr10:97434600-97450400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr10:97434600-97450800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr10:97434600-97451000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr10:97434600-97451600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr10:97434800-97446800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:97434800-97451800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr10:97434800-97451800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr10:97435000-97451200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr10:97435000-97452000	Strong transcription	Placenta	Placenta
40	chr10:97435600-97451000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr10:97435600-97451600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:97435800-97446200	Weak transcription	Stomach Mucosa	stomach
43	chr10:97435800-97447600	Strong transcription	Fetal Thymus	thymus
44	chr10:97435800-97449200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:97436000-97449400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:97436200-97446600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr10:97436200-97452000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:97436200-97452200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr10:97436400-97451800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:97436600-97450200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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