Variant report

Variant	rs2437860
Chromosome Location	chr15:45343122-45343123
allele	A/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	ZNF143	chr15:45342830-45343170	K562	blood:	n/a	n/a
2	CBX3	chr15:45342723-45343405	K562	blood:	n/a	n/a
3	CBX3	chr15:45342729-45343139	K562	blood:	n/a	n/a
4	KAP1	chr15:45342612-45343901	K562	blood:	n/a	n/a
5	SETDB1	chr15:45342688-45343475	U2OS	brain:	n/a	n/a
6	SETDB1	chr15:45340563-45343706	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000252171	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10518960	0.90[ASN][1000 genomes]
rs2467840	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467842	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2467844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2576102	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2854445	0.84[AFR][1000 genomes]
rs4775709	0.90[ASN][1000 genomes]
rs4775721	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59179198	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61074192	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7402037	0.82[ASN][1000 genomes]
rs8043226	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9944189	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv977710	chr15:45316191-45360995	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv3438009	chr15:45329164-45353245	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv9260	chr15:45334818-45344949	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45316600-45344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:45316600-45351000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:45316600-45356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:45316600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:45316800-45346400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr15:45319200-45363200	Weak transcription	Fetal Thymus	thymus
7	chr15:45319800-45363600	Weak transcription	Brain Angular Gyrus	brain
8	chr15:45327600-45344400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:45329400-45356400	Weak transcription	Osteobl	bone
10	chr15:45329600-45350000	Weak transcription	A549	lung
11	chr15:45329800-45343600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:45329800-45343800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr15:45329800-45345600	Weak transcription	Fetal Kidney	kidney
14	chr15:45329800-45350200	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:45329800-45365800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:45331400-45369600	Weak transcription	Pancreas	Pancrea
17	chr15:45333400-45361200	Weak transcription	HUVEC	blood vessel
18	chr15:45336800-45347400	Weak transcription	Adipose Nuclei	Adipose
19	chr15:45337400-45365400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:45338000-45343600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:45338000-45363800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:45338400-45365200	Weak transcription	HSMM	muscle
23	chr15:45338600-45345600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:45339000-45345800	Strong transcription	Liver	Liver
25	chr15:45339400-45345600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:45339800-45345600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:45340000-45343400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:45340000-45345000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:45340000-45345800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr15:45340400-45345800	Strong transcription	Hela-S3	cervix
31	chr15:45340600-45343400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:45340600-45343600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:45340600-45345600	ZNF genes & repeats	Fetal Brain Female	brain
34	chr15:45340600-45345800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:45340600-45345800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
36	chr15:45340600-45345800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:45340600-45345800	ZNF genes & repeats	Dnd41	blood
38	chr15:45340800-45359800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:45341000-45343600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr15:45341200-45345800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:45341200-45361800	Weak transcription	Ovary	ovary
42	chr15:45341200-45363600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr15:45341400-45349000	Weak transcription	Brain Anterior Caudate	brain
44	chr15:45341400-45353200	Weak transcription	Small Intestine	intestine
45	chr15:45341400-45353400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr15:45341400-45353400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr15:45341400-45362800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr15:45341600-45344400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:45341600-45344400	Weak transcription	Esophagus	oesophagus
50	chr15:45341600-45344800	Weak transcription	Aorta	Aorta

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