Variant report

Variant	rs7170646
Chromosome Location	chr15:35145049-35145050
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	POLR2A	chr15:35141567-35146083	K562	blood:	n/a	n/a
2	GATA2	chr15:35144945-35145266	HUVEC	blood vessel:	n/a	chr15:35145077-35145098

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:35139930..35141497-chr15:35142763..35145375,2	K562	blood:

Variant related genes	Relation type
ENSG00000259751	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12914781	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1357180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2015461	0.82[AMR][1000 genomes]
rs2862	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3743121	1.00[CEU][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3743122	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	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8029715	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8035442	0.82[AMR][1000 genomes]
rs8039347	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8040542	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8042488	0.91[AFR][1000 genomes];0.98[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
rs7170646	AQR	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35129200-35147600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:35130000-35145600	Weak transcription	A549	lung
3	chr15:35130200-35147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:35130400-35147600	Weak transcription	NHLF	lung
5	chr15:35134000-35145200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr15:35134000-35145600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr15:35134000-35147400	Weak transcription	NHDF-Ad	bronchial
8	chr15:35134600-35147600	Weak transcription	HSMM	muscle
9	chr15:35134800-35147400	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:35139600-35148000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:35140200-35146800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:35140400-35146800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr15:35140400-35221600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:35140600-35148000	Weak transcription	NHEK	skin
15	chr15:35140800-35146600	Weak transcription	Fetal Intestine Large	intestine
16	chr15:35140800-35147200	Weak transcription	Thymus	Thymus
17	chr15:35140800-35147400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:35141000-35146800	Weak transcription	NH-A	brain
19	chr15:35141000-35147200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:35141000-35148000	Weak transcription	Fetal Brain Female	brain
21	chr15:35141400-35147200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:35141600-35154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:35141800-35146600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:35141800-35153400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:35142000-35146600	Weak transcription	Primary B cells from cord blood	blood
26	chr15:35142000-35147600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:35142600-35145600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr15:35142600-35146800	Weak transcription	K562	blood
29	chr15:35142600-35149000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:35142600-35149000	Weak transcription	Fetal Intestine Small	intestine
31	chr15:35142600-35149400	Weak transcription	Pancreas	Pancrea
32	chr15:35142600-35153400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:35142600-35156400	Weak transcription	Lung	lung
34	chr15:35142600-35180200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:35142600-35185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:35142800-35147000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:35143000-35147600	Weak transcription	HMEC	breast
38	chr15:35143400-35146200	Enhancers	Fetal Lung	lung
39	chr15:35143400-35147200	Weak transcription	HSMMtube	muscle
40	chr15:35143400-35147400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr15:35143600-35148000	Weak transcription	Placenta	Placenta
42	chr15:35143800-35145200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:35143800-35145600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr15:35143800-35147400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr15:35144000-35145600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:35144000-35145800	Enhancers	Brain Germinal Matrix	brain
47	chr15:35144000-35147800	Weak transcription	GM12878-XiMat	blood
48	chr15:35144200-35146400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr15:35144200-35146600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr15:35144400-35145200	Enhancers	Right Atrium	heart

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