Variant report

Variant	rs2653165
Chromosome Location	chr1:242366282-242366283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242353836..242355949-chr1:242363634..242366630,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2636251	0.97[ASN][1000 genomes]
rs2840621	0.89[ASN][1000 genomes]
rs316823	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs316824	0.90[EUR][1000 genomes]
rs316825	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316828	0.94[ASN][1000 genomes]
rs316829	0.94[ASN][1000 genomes]
rs316837	0.89[ASN][1000 genomes]
rs316854	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs316856	0.97[ASN][1000 genomes]
rs316857	0.91[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs316858	0.97[ASN][1000 genomes]
rs316859	0.97[ASN][1000 genomes]
rs316860	0.97[ASN][1000 genomes]
rs316861	0.97[ASN][1000 genomes]
rs316862	0.97[ASN][1000 genomes]
rs316863	0.91[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs316865	0.97[ASN][1000 genomes]
rs316866	0.97[ASN][1000 genomes]
rs316867	0.97[ASN][1000 genomes]
rs402098	0.97[ASN][1000 genomes]
rs420622	0.97[ASN][1000 genomes]
rs427498	0.89[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	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv468672	chr1:242201247-242555949	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv470788	chr1:242201247-242555949	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv549462	chr1:242201247-242555949	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv528016	chr1:242223399-242451350	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv549463	chr1:242265419-242856854	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv998804	chr1:242281003-242491362	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv430391	chr1:242307104-243280885	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv817488	chr1:242330066-243121127	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv868888	chr1:242330066-243191101	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1003844	chr1:242363698-242904755	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh 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

Variant related diseases (count:1)

Disease	PMID	Source
Response to cytadine analogues (cytosine arabinoside)	24483146	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2653165	PLD5	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242353400-242380400	Weak transcription	Aorta	Aorta
2	chr1:242361800-242369200	Weak transcription	Adipose Nuclei	Adipose
3	chr1:242362200-242366400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:242363000-242371400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:242363800-242367800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:242363800-242374800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:242364000-242369000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:242364000-242379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:242364400-242367600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:242364400-242367800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:242364400-242370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:242364600-242369000	Weak transcription	HMEC	breast
13	chr1:242364600-242371400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:242364800-242366600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:242364800-242368000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:242365000-242369000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:242365600-242367000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:242365800-242366400	Enhancers	Fetal Thymus	thymus
19	chr1:242366200-242366400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:242366200-242367000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:242366200-242367000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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