Variant report

Variant	rs10748634
Chromosome Location	chr10:97385662-97385663
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97384935..97386952-chr10:97417670..97420047,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10159941	0.84[CHB][hapmap]
rs10509687	0.92[CHB][hapmap]
rs10736093	0.94[JPT][hapmap]
rs10748635	0.82[CHB][hapmap]
rs10748637	0.84[CHB][hapmap]
rs10748638	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs10748642	0.94[JPT][hapmap]
rs10748643	0.94[JPT][hapmap]
rs10786228	0.92[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap]
rs10786230	0.84[CHB][hapmap]
rs10786235	0.84[CHB][hapmap]
rs10786236	0.94[JPT][hapmap]
rs10882646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882647	0.85[JPT][hapmap]
rs10882651	0.90[JPT][hapmap]
rs10882652	0.90[JPT][hapmap]
rs10882653	0.84[CHB][hapmap]
rs10882656	0.94[JPT][hapmap]
rs10882657	0.94[JPT][hapmap]
rs10882660	0.94[JPT][hapmap]
rs10882664	0.83[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap]
rs10882665	0.88[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap]
rs10882670	0.84[CHB][hapmap]
rs11188414	0.92[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap]
rs11188459	0.84[CHB][hapmap]
rs11188485	0.84[CHB][hapmap]
rs11188486	0.94[JPT][hapmap]
rs11188488	0.84[CHB][hapmap]
rs11188497	0.93[JPT][hapmap]
rs11596004	0.81[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11596976	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12244124	0.85[JPT][hapmap]
rs12244559	0.90[JPT][hapmap]
rs12262943	0.84[CHB][hapmap]
rs1418709	0.94[JPT][hapmap]
rs17111041	0.92[CHB][hapmap]
rs1890186	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933165	0.94[JPT][hapmap]
rs1933166	0.84[CHB][hapmap]
rs1933169	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1953710	0.84[CHB][hapmap]
rs2153913	0.94[JPT][hapmap]
rs2185818	0.83[JPT][hapmap]
rs2211002	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2225893	0.92[CHB][hapmap]
rs2275273	0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.86[YRI][hapmap];0.80[ASN][1000 genomes]
rs2297788	0.90[JPT][hapmap]
rs2485643	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861147	0.94[JPT][hapmap]
rs2861148	0.94[JPT][hapmap]
rs2861149	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2986401	0.85[JPT][hapmap]
rs3176891	0.94[JPT][hapmap]
rs3750700	0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs3750701	0.92[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.82[ASN][1000 genomes]
rs3793748	0.92[CHB][hapmap]
rs3793749	0.85[JPT][hapmap]
rs3814159	0.94[JPT][hapmap]
rs3929900	0.94[JPT][hapmap]
rs3934409	0.94[JPT][hapmap]
rs3949478	0.83[ASW][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[MKK][hapmap];0.82[ASN][1000 genomes]
rs4074424	0.94[JPT][hapmap]
rs4075310	0.94[JPT][hapmap]
rs4244319	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4290159	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4396219	0.94[JPT][hapmap]
rs4431963	0.94[JPT][hapmap]
rs4457685	0.84[CHB][hapmap]
rs4501930	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4551688	0.94[JPT][hapmap]
rs4582902	0.94[JPT][hapmap]
rs479505	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4918950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4918962	0.94[JPT][hapmap]
rs4918964	0.92[CHB][hapmap]
rs496426	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs496641	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs497331	0.92[CHB][hapmap]
rs5014871	0.94[JPT][hapmap]
rs501819	0.85[JPT][hapmap]
rs535449	0.85[JPT][hapmap]
rs540145	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs540963	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs546138	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs549042	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs571505	0.92[CHB][hapmap]
rs6584022	0.94[JPT][hapmap]
rs6584023	0.94[JPT][hapmap]
rs6584026	0.84[CHB][hapmap]
rs6584027	0.94[JPT][hapmap]
rs6584028	0.84[CHB][hapmap]
rs6584033	0.84[CHB][hapmap]
rs7069234	0.84[CHB][hapmap]
rs7071836	0.94[JPT][hapmap]
rs7072572	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7073723	0.84[CHB][hapmap]
rs7081414	0.84[CHB][hapmap]
rs7086986	0.94[JPT][hapmap]
rs7095587	0.94[JPT][hapmap]
rs7096317	0.89[JPT][hapmap]
rs7893677	0.82[AMR][1000 genomes]
rs7894648	0.90[JPT][hapmap]
rs7902190	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7905653	0.84[CHB][hapmap]
rs7909569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915345	0.84[CHB][hapmap]
rs7918235	0.84[CHB][hapmap]
rs7920801	0.87[JPT][hapmap]
rs7920850	0.84[CHB][hapmap]
rs945958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9663413	0.85[JPT][hapmap]
rs9787589	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[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
rs10748634	ENTPD1	cis	lymphoblastoid	seeQTL
rs10748634	TCTN3	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 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	chr10:97364600-97388400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:97364800-97403400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:97364800-97411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:97365000-97403000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr10:97365000-97403400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:97367400-97388600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:97367600-97388400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:97368400-97393000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:97373800-97386600	Weak transcription	Fetal Brain Male	brain
13	chr10:97374000-97386400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:97374400-97386600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr10:97375400-97387000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:97376200-97400600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr10:97376400-97411400	Weak transcription	Psoas Muscle	Psoas
18	chr10:97376400-97415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:97376600-97385800	Weak transcription	Fetal Kidney	kidney
20	chr10:97376600-97415000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr10:97378200-97386400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:97378200-97387200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr10:97378200-97391800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:97378600-97385800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr10:97378600-97386400	Weak transcription	Spleen	Spleen
26	chr10:97378600-97414200	Weak transcription	Fetal Heart	heart
27	chr10:97378800-97387200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr10:97378800-97388000	Weak transcription	K562	blood
29	chr10:97379800-97403200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:97380200-97386600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr10:97380200-97399200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:97380200-97403200	Strong transcription	Fetal Muscle Leg	muscle
33	chr10:97380200-97403400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr10:97380200-97408800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr10:97380400-97386600	Weak transcription	Fetal Lung	lung
36	chr10:97380600-97385800	Strong transcription	Fetal Intestine Large	intestine
37	chr10:97380600-97387400	Strong transcription	Fetal Stomach	stomach
38	chr10:97380600-97403000	Strong transcription	NH-A	brain
39	chr10:97380600-97403200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:97380600-97403200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:97380600-97408000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:97380800-97388800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr10:97380800-97409000	Strong transcription	Osteobl	bone
44	chr10:97381000-97385800	Weak transcription	Esophagus	oesophagus
45	chr10:97381000-97391600	Weak transcription	Brain Angular Gyrus	brain
46	chr10:97381200-97385800	Weak transcription	Lung	lung
47	chr10:97381200-97385800	Weak transcription	Stomach Mucosa	stomach
48	chr10:97381200-97403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:97381400-97385800	Strong transcription	Fetal Intestine Small	intestine
50	chr10:97381400-97393000	Weak transcription	Thymus	Thymus

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