Variant report

Variant	rs9806596
Chromosome Location	chr15:44722368-44722369
allele	C/T
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	RFX5	chr15:44722287-44722386	K562	blood:	n/a	n/a
2	TBL1XR1	chr15:44722173-44722428	K562	blood:	n/a	n/a
3	SPI1	chr15:44722044-44722460	HL-60	blood:	n/a	chr15:44722260-44722273
4	SPI1	chr15:44722147-44722480	HL-60	blood:	n/a	chr15:44722260-44722273

Variant related genes	Relation type
RN7SL347P	TF binding region
ENSG00000259595	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10152710	1.00[YRI][hapmap]
rs10467910	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12324005	0.87[MKK][hapmap]
rs34612266	1.00[AMR][1000 genomes]
rs4513066	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7164866	0.82[LWK][hapmap];0.87[MKK][hapmap];0.92[YRI][hapmap]
rs7168014	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8025863	1.00[MKK][hapmap];0.92[YRI][hapmap]
rs867816	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs905302	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9652422	0.95[AFR][1000 genomes];1.00[AMR][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	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv904178	chr15:44609796-44724287	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9806596	CTDSPL2	cis	multi-tissue	Pritchard

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44720400-44724000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:44720400-44724000	Weak transcription	Spleen	Spleen
3	chr15:44720400-44727600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:44720400-44733000	Weak transcription	Gastric	stomach
5	chr15:44720400-44740000	Weak transcription	Esophagus	oesophagus
6	chr15:44720400-44740000	Weak transcription	Pancreas	Pancrea
7	chr15:44720600-44740000	Weak transcription	Aorta	Aorta
8	chr15:44720800-44724000	Weak transcription	Lung	lung
9	chr15:44720800-44733000	Weak transcription	Left Ventricle	heart
10	chr15:44720800-44754000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:44721000-44722400	Enhancers	Brain Anterior Caudate	brain
12	chr15:44721000-44722400	Weak transcription	Stomach Mucosa	stomach
13	chr15:44721000-44722800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:44721000-44722800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:44721000-44722800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:44721000-44723000	Enhancers	Fetal Heart	heart
17	chr15:44721000-44723800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:44721000-44724000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:44721000-44724800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr15:44721000-44725200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:44721000-44733000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:44721000-44733000	Weak transcription	Ovary	ovary
23	chr15:44721000-44733200	Weak transcription	Right Ventricle	heart
24	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:44721200-44722400	Enhancers	Brain Germinal Matrix	brain
26	chr15:44721200-44722800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr15:44721200-44722800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr15:44721200-44724600	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:44721200-44728200	Weak transcription	HSMM	muscle
30	chr15:44721400-44723000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:44721400-44723600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:44721400-44724800	Weak transcription	Fetal Thymus	thymus
33	chr15:44721400-44728000	Weak transcription	Osteobl	bone
34	chr15:44721400-44733400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr15:44721600-44722400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:44721600-44722400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr15:44721600-44722400	Weak transcription	Brain Substantia Nigra	brain
38	chr15:44721600-44722600	Weak transcription	Right Atrium	heart
39	chr15:44721600-44722600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr15:44721600-44722800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:44721600-44722800	Enhancers	Primary hematopoietic stem cells	blood
42	chr15:44721600-44722800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:44721600-44722800	Enhancers	Liver	Liver
44	chr15:44721600-44722800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr15:44721600-44723000	Enhancers	Psoas Muscle	Psoas
46	chr15:44721600-44723000	Enhancers	Rectal Smooth Muscle	rectum
47	chr15:44721600-44724000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:44721600-44728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:44721600-44728200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:44721600-44728200	Weak transcription	Brain Angular Gyrus	brain

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