Variant report

Variant	rs724448
Chromosome Location	chr3:46935734-46935735
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46906899..46908825-chr3:46935706..46937551,2	K562	blood:
2	chr3:46935290..46938710-chr3:46938764..46942918,5	K562	blood:
3	chr3:46746480..46747149-chr3:46935659..46936387,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1001284	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10461018	0.81[JPT][hapmap]
rs1079276	0.81[YRI][hapmap]
rs10865943	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11130110	0.81[JPT][hapmap];0.81[YRI][hapmap]
rs11130111	0.80[JPT][hapmap];0.81[YRI][hapmap]
rs1138518	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11705936	0.92[ASN][1000 genomes]
rs11719795	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1466275	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061197	0.81[JPT][hapmap]
rs2168443	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs2242116	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290545	0.86[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2290546	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2305634	0.81[YRI][hapmap]
rs4539969	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4587	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4682837	0.81[JPT][hapmap];0.81[YRI][hapmap]
rs4682844	0.81[JPT][hapmap]
rs4682845	0.93[ASN][1000 genomes]
rs4683296	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs4683297	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4683298	0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4683299	0.93[ASN][1000 genomes]
rs4683300	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683301	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6442038	0.86[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs6442039	0.83[ASN][1000 genomes]
rs6442040	0.80[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.91[ASN][1000 genomes]
rs6780601	0.92[ASN][1000 genomes]
rs724449	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];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs724450	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs7623898	0.91[ASN][1000 genomes]
rs7628747	0.81[JPT][hapmap];0.81[YRI][hapmap]
rs7635480	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7645278	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7646906	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9852082	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs9855938	0.84[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1003979	chr3:46853374-46943854	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv876752	chr3:46879831-46967040	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv876753	chr3:46884552-46957298	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv876754	chr3:46884552-46967040	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv460526	chr3:46935527-47001350	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs724448	KLHL18	Cis_1M	lymphoblastoid	RTeQTL
rs724448	CCDC12	cis	cerebellum	SCAN
rs724448	SCAP	cis	parietal	SCAN
rs724448	IMPDH2	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46934000-46936000	Bivalent Enhancer	Placenta	Placenta
2	chr3:46934400-46935800	Enhancers	Spleen	Spleen
3	chr3:46934400-46936200	Enhancers	Right Ventricle	heart
4	chr3:46934400-46940000	Weak transcription	Pancreas	Pancrea
5	chr3:46934400-46951000	Weak transcription	Psoas Muscle	Psoas
6	chr3:46934600-46936600	Weak transcription	Liver	Liver
7	chr3:46934600-46939600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:46934600-46939800	Weak transcription	Brain Angular Gyrus	brain
9	chr3:46934600-46939800	Weak transcription	Brain Anterior Caudate	brain
10	chr3:46934600-46939800	Weak transcription	Esophagus	oesophagus
11	chr3:46934600-46949400	Weak transcription	Fetal Kidney	kidney
12	chr3:46934800-46936000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:46934800-46937000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:46934800-46940000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:46934800-46940200	Weak transcription	HUVEC	blood vessel
16	chr3:46935000-46935800	Enhancers	Fetal Heart	heart
17	chr3:46935000-46939400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:46935000-46940000	Weak transcription	Gastric	stomach
19	chr3:46935000-46940000	Weak transcription	Ovary	ovary
20	chr3:46935200-46936800	Weak transcription	Fetal Lung	lung
21	chr3:46935200-46939800	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:46935200-46939800	Weak transcription	Brain Substantia Nigra	brain
23	chr3:46935200-46939800	Weak transcription	HSMM	muscle
24	chr3:46935400-46939600	Weak transcription	HSMMtube	muscle
25	chr3:46935400-46940000	Weak transcription	Right Atrium	heart
26	chr3:46935400-46940400	Weak transcription	Left Ventricle	heart
27	chr3:46935600-46935800	Enhancers	Primary hematopoietic stem cells	blood
28	chr3:46935600-46936600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:46935600-46937000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:46935600-46937600	Weak transcription	Adipose Nuclei	Adipose
31	chr3:46935600-46939800	Weak transcription	Lung	lung

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