Variant report

Variant	rs1053905
Chromosome Location	chr10:97366364-97366365
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	chr10:97129620..97132009-chr10:97364748..97367399,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10786226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882638	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882640	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882641	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.84[MEX][hapmap];0.90[MKK][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882642	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882643	0.85[CHB][hapmap]
rs10882644	0.85[CHB][hapmap]
rs10882649	0.85[CHB][hapmap]
rs10882654	1.00[CHB][hapmap]
rs11188397	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];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188398	0.85[CHB][hapmap]
rs11188399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188407	0.85[CHB][hapmap]
rs11188411	0.85[CHB][hapmap]
rs11188417	0.85[CHB][hapmap]
rs11188444	0.82[CHB][hapmap]
rs12778814	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12780161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409709	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461546	0.85[CHB][hapmap]
rs2296689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296691	0.85[CHB][hapmap]
rs2296692	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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4037	0.85[CHB][hapmap]
rs4258314	0.85[CHB][hapmap]
rs568046	0.81[ASW][hapmap]
rs58419111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100377	0.86[CHB][hapmap];0.85[TSI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs749050	0.85[CHB][hapmap]
rs7905711	0.85[ASN][1000 genomes]
rs943342	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943343	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1053905	ENTPD1	cis	lymphoblastoid	seeQTL
rs1053905	ALDH18A1	cis	cerebellum	SCAN
rs1053905	C10orf12	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97335200-97373400	Weak transcription	Psoas Muscle	Psoas
2	chr10:97361000-97366400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:97361000-97366800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:97361000-97367600	Weak transcription	Fetal Kidney	kidney
5	chr10:97361000-97368200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr10:97361000-97368400	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:97361400-97366600	Weak transcription	K562	blood
8	chr10:97361600-97367800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr10:97361800-97369200	Weak transcription	Primary B cells from cord blood	blood
10	chr10:97363000-97366800	Weak transcription	HSMM	muscle
11	chr10:97363200-97366400	Weak transcription	HUVEC	blood vessel
12	chr10:97363200-97369000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:97363400-97366600	Weak transcription	Colonic Mucosa	Colon
14	chr10:97363400-97370400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr10:97363400-97370400	Strong transcription	Fetal Intestine Small	intestine
16	chr10:97363600-97369200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:97363800-97367600	Enhancers	Colon Smooth Muscle	Colon
18	chr10:97363800-97368400	Weak transcription	Brain Substantia Nigra	brain
19	chr10:97363800-97369200	Weak transcription	HMEC	breast
20	chr10:97363800-97369800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr10:97364000-97366600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr10:97364000-97367400	Enhancers	Rectal Smooth Muscle	rectum
23	chr10:97364000-97370200	Strong transcription	Small Intestine	intestine
24	chr10:97364000-97382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr10:97364000-97409200	Strong transcription	Primary T cells from cord blood	blood
26	chr10:97364000-97411000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:97364200-97367000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:97364200-97372000	Strong transcription	Fetal Intestine Large	intestine
29	chr10:97364400-97366600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:97364400-97367200	Genic enhancers	Fetal Stomach	stomach
31	chr10:97364400-97370000	Weak transcription	Fetal Brain Male	brain
32	chr10:97364400-97373200	Strong transcription	Liver	Liver
33	chr10:97364400-97378600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:97364400-97378600	Strong transcription	Fetal Brain Female	brain
35	chr10:97364400-97378600	Strong transcription	Spleen	Spleen
36	chr10:97364400-97379000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:97364400-97403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:97364600-97369000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:97364600-97372800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr10:97364600-97377400	Strong transcription	Placenta	Placenta
41	chr10:97364600-97378600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr10:97364600-97378600	Strong transcription	Pancreas	Pancrea
43	chr10:97364600-97378800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:97364600-97378800	Strong transcription	NH-A	brain
45	chr10:97364600-97379000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:97364600-97379000	Strong transcription	GM12878-XiMat	blood
47	chr10:97364600-97388400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:97364800-97366600	Weak transcription	Esophagus	oesophagus
49	chr10:97364800-97368000	Strong transcription	Thymus	Thymus
50	chr10:97364800-97368200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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