Variant report

Variant	rs905302
Chromosome Location	chr15:44700463-44700464
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10152710	1.00[YRI][hapmap]
rs10467910	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34612266	1.00[AMR][1000 genomes]
rs4513066	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7164866	0.92[YRI][hapmap]
rs7168014	1.00[AMR][1000 genomes]
rs8025863	0.92[YRI][hapmap]
rs867816	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9652422	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806596	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
rs905302	CTDSPL2	cis	multi-tissue	Pritchard

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44647600-44710200	Weak transcription	Left Ventricle	heart
2	chr15:44655800-44718400	Weak transcription	Fetal Brain Female	brain
3	chr15:44657000-44719000	Weak transcription	Spleen	Spleen
4	chr15:44660200-44706200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:44661400-44707000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr15:44661400-44708400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:44661400-44718400	Weak transcription	Fetal Brain Male	brain
8	chr15:44661400-44718600	Weak transcription	Fetal Lung	lung
9	chr15:44661800-44718200	Weak transcription	Brain Angular Gyrus	brain
10	chr15:44663000-44717600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:44663400-44700600	Weak transcription	Right Ventricle	heart
12	chr15:44663400-44718800	Weak transcription	Aorta	Aorta
13	chr15:44665200-44709400	Weak transcription	Pancreas	Pancrea
14	chr15:44667000-44718000	Weak transcription	Thymus	Thymus
15	chr15:44667200-44710200	Weak transcription	Fetal Intestine Large	intestine
16	chr15:44667200-44719000	Weak transcription	Lung	lung
17	chr15:44672600-44700600	Weak transcription	Adipose Nuclei	Adipose
18	chr15:44673800-44709400	Weak transcription	Primary B cells from cord blood	blood
19	chr15:44673800-44718200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr15:44673800-44718400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:44674200-44712000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr15:44676600-44707200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:44677800-44718400	Weak transcription	HSMM	muscle
24	chr15:44678000-44713200	Weak transcription	NH-A	brain
25	chr15:44678000-44718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:44678000-44718200	Weak transcription	NHDF-Ad	bronchial
27	chr15:44678200-44718200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:44678200-44718400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:44679400-44718800	Weak transcription	Ovary	ovary
30	chr15:44681000-44710800	Weak transcription	Liver	Liver
31	chr15:44681000-44718000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:44682200-44718200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:44682200-44718200	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:44682400-44709600	Weak transcription	Fetal Intestine Small	intestine
35	chr15:44682600-44718400	Weak transcription	Osteobl	bone
36	chr15:44683200-44709600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:44683200-44718200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:44684600-44718000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:44686600-44718200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:44686800-44702400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr15:44686800-44718600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:44687000-44718200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:44687400-44706000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:44688400-44718200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:44690800-44706200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:44690800-44711800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:44690800-44718200	Weak transcription	Hela-S3	cervix
48	chr15:44691000-44718000	Weak transcription	Primary T cells from cord blood	blood
49	chr15:44694800-44717800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr15:44695400-44717400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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