Variant report

Variant	rs11591779
Chromosome Location	chr10:97368696-97368697
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	chr10:97368105..97370562-chr10:97374316..97376583,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000059573	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10882643	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882644	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882649	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882650	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188393	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188394	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188396	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11188398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188404	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188406	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188407	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188411	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188417	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188444	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11188455	0.81[AMR][1000 genomes]
rs11188464	0.81[AMR][1000 genomes]
rs11592213	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12357173	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12359272	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12359366	0.81[AMR][1000 genomes]
rs17461546	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2004611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2152916	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2296691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763707	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258314	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4417206	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917697	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918951	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918955	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55801606	0.83[AMR][1000 genomes]
rs56322409	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57347444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61869573	0.81[AMR][1000 genomes]
rs61871790	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61871792	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61871793	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61871796	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6946	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7072953	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7073010	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs749050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917792	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11591779	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL
rs11591779	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97335200-97373400	Weak transcription	Psoas Muscle	Psoas
2	chr10:97361800-97369200	Weak transcription	Primary B cells from cord blood	blood
3	chr10:97363200-97369000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:97363400-97370400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr10:97363400-97370400	Strong transcription	Fetal Intestine Small	intestine
6	chr10:97363600-97369200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:97363800-97369200	Weak transcription	HMEC	breast
8	chr10:97363800-97369800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr10:97364000-97370200	Strong transcription	Small Intestine	intestine
10	chr10:97364000-97382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:97364000-97409200	Strong transcription	Primary T cells from cord blood	blood
12	chr10:97364000-97411000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:97364200-97372000	Strong transcription	Fetal Intestine Large	intestine
14	chr10:97364400-97370000	Weak transcription	Fetal Brain Male	brain
15	chr10:97364400-97373200	Strong transcription	Liver	Liver
16	chr10:97364400-97378600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr10:97364400-97378600	Strong transcription	Fetal Brain Female	brain
18	chr10:97364400-97378600	Strong transcription	Spleen	Spleen
19	chr10:97364400-97379000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:97364400-97403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:97364600-97369000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:97364600-97372800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr10:97364600-97377400	Strong transcription	Placenta	Placenta
24	chr10:97364600-97378600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr10:97364600-97378600	Strong transcription	Pancreas	Pancrea
26	chr10:97364600-97378800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:97364600-97378800	Strong transcription	NH-A	brain
28	chr10:97364600-97379000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:97364600-97379000	Strong transcription	GM12878-XiMat	blood
30	chr10:97364600-97388400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:97364800-97369000	Weak transcription	Right Ventricle	heart
32	chr10:97364800-97372200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:97364800-97372600	Strong transcription	HepG2	liver
34	chr10:97364800-97378600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr10:97364800-97378600	Strong transcription	Gastric	stomach
36	chr10:97364800-97378800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:97364800-97378800	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr10:97364800-97378800	Strong transcription	Osteobl	bone
39	chr10:97364800-97379000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr10:97364800-97403400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr10:97364800-97411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:97365000-97372400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr10:97365000-97372400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr10:97365000-97373600	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr10:97365000-97378200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr10:97365000-97378400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr10:97365000-97378600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr10:97365000-97378600	Strong transcription	Brain Germinal Matrix	brain
49	chr10:97365000-97378800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:97365000-97378800	Strong transcription	Adipose Nuclei	Adipose

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