Variant report

Variant	rs3743122
Chromosome Location	chr15:35147292-35147293
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr15:35147080-35147418	SH-SY5Y	brain:	n/a	n/a
2	USF2	chr15:35147252-35147352	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:35146497-35148038	K562	blood:	n/a	n/a
4	EP300	chr15:35146915-35147415	Hela-S3	cervix:	n/a	chr15:35147331-35147345
5	STAT3	chr15:35146925-35148466	Hela-S3	cervix:	n/a	chr15:35147082-35147091 chr15:35147083-35147092 chr15:35147329-35147340
6	TCF7L2	chr15:35147032-35148395	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr15:35146310-35148460	Hela-S3	cervix:	n/a	chr15:35146591-35146604 chr15:35147493-35147504

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:35141828..35144222-chr15:35145311..35148151,3	K562	blood:

Variant related genes	Relation type
ENSG00000259751	TF binding region
ENSG00000259751	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12914781	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1357180	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2862	0.95[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3743121	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs7170646	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171993	0.95[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8029715	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8039347	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8040542	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8042488	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv457106	chr15:35049787-35227613	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv569153	chr15:35049787-35227613	Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2761865	chr15:35101678-35271639	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv832967	chr15:35110102-35267906	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3743122	AQR	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35129200-35147600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:35130200-35147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:35130400-35147600	Weak transcription	NHLF	lung
4	chr15:35134000-35147400	Weak transcription	NHDF-Ad	bronchial
5	chr15:35134600-35147600	Weak transcription	HSMM	muscle
6	chr15:35134800-35147400	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:35139600-35148000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:35140400-35221600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:35140600-35148000	Weak transcription	NHEK	skin
10	chr15:35140800-35147400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:35141000-35148000	Weak transcription	Fetal Brain Female	brain
12	chr15:35141600-35154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:35141800-35153400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:35142000-35147600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:35142600-35149000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:35142600-35149000	Weak transcription	Fetal Intestine Small	intestine
17	chr15:35142600-35149400	Weak transcription	Pancreas	Pancrea
18	chr15:35142600-35153400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:35142600-35156400	Weak transcription	Lung	lung
20	chr15:35142600-35180200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:35142600-35185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:35143000-35147600	Weak transcription	HMEC	breast
23	chr15:35143400-35147400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr15:35143600-35148000	Weak transcription	Placenta	Placenta
25	chr15:35143800-35147400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:35144000-35147800	Weak transcription	GM12878-XiMat	blood
27	chr15:35144800-35148600	Enhancers	Fetal Heart	heart
28	chr15:35145000-35155400	Strong transcription	Primary T cells from cord blood	blood
29	chr15:35145200-35149000	Weak transcription	Right Atrium	heart
30	chr15:35145200-35198200	Weak transcription	Colonic Mucosa	Colon
31	chr15:35145400-35147400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:35145600-35147400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:35145600-35147600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:35145600-35147600	Weak transcription	Fetal Brain Male	brain
35	chr15:35145600-35148200	Weak transcription	Fetal Kidney	kidney
36	chr15:35145600-35152000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr15:35145600-35161200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:35145600-35184600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:35145800-35147400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr15:35145800-35147400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:35145800-35147400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:35145800-35147400	Weak transcription	Brain Angular Gyrus	brain
43	chr15:35145800-35147600	Weak transcription	Osteobl	bone
44	chr15:35145800-35148000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:35145800-35148000	Weak transcription	Gastric	stomach
46	chr15:35145800-35148200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr15:35145800-35148200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:35145800-35148200	Weak transcription	Fetal Stomach	stomach
49	chr15:35145800-35148200	Weak transcription	Spleen	Spleen
50	chr15:35145800-35153000	Weak transcription	Left Ventricle	heart

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