Variant report

Variant	rs10518975
Chromosome Location	chr15:72194456-72194457
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	GATA3	chr15:72194452-72195106	SK-N-SH	brain:	n/a	chr15:72194785-72194806 chr15:72194790-72194799 chr15:72194746-72194758 chr15:72194792-72194802 chr15:72194791-72194799 chr15:72194787-72194803 chr15:72194790-72194800 chr15:72194792-72194799

Variant related genes	Relation type
MYO9A	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10048041	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10083583	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329355	1.00[AMR][1000 genomes]
rs13379549	1.00[AMR][1000 genomes]
rs13379635	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16956213	1.00[AMR][1000 genomes]
rs16956251	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16956307	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16956355	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2415133	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28405881	1.00[AMR][1000 genomes]
rs28478122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28542248	1.00[AMR][1000 genomes]
rs28556992	1.00[AMR][1000 genomes]
rs28589295	1.00[AMR][1000 genomes]
rs56820256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59572935	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60543967	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61026619	1.00[AMR][1000 genomes]
rs61109283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7176558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73432492	0.81[AFR][1000 genomes]
rs73432496	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73432498	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434307	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434311	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434332	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434358	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434377	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434390	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434401	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436314	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436315	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436318	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436326	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436327	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436331	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436332	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436365	0.82[AFR][1000 genomes]
rs73436366	0.82[AFR][1000 genomes]
rs748471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs748473	1.00[AMR][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	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv569906	chr15:72126034-72218036	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv904336	chr15:72145937-72329906	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv569907	chr15:72154000-72215065	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv569908	chr15:72154000-72218036	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv457195	chr15:72177659-72250741	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv569909	chr15:72177659-72250741	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72122400-72195000	Weak transcription	NHEK	skin
2	chr15:72122600-72195800	Weak transcription	Gastric	stomach
3	chr15:72142600-72199200	Weak transcription	Hela-S3	cervix
4	chr15:72144600-72223400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:72161000-72211000	Weak transcription	Small Intestine	intestine
6	chr15:72164000-72218400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:72167000-72197800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:72173000-72200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:72178400-72195000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:72178800-72195000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:72185600-72198600	Weak transcription	A549	lung
12	chr15:72189200-72198000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:72189400-72194600	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:72189400-72194600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr15:72189400-72195000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:72189400-72195200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:72189400-72195400	Weak transcription	HepG2	liver
18	chr15:72189400-72196000	Strong transcription	NHDF-Ad	bronchial
19	chr15:72189400-72196800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:72189400-72196800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr15:72189400-72197400	Strong transcription	Adipose Nuclei	Adipose
22	chr15:72189400-72197400	Strong transcription	Placenta	Placenta
23	chr15:72189400-72197600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:72189400-72197800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:72189600-72194600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:72189800-72197200	Strong transcription	Liver	Liver
27	chr15:72189800-72197400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr15:72190400-72195400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:72190800-72203800	Weak transcription	HMEC	breast
30	chr15:72190800-72206400	Weak transcription	Brain Hippocampus Middle	brain
31	chr15:72191000-72195400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:72191000-72198600	Weak transcription	Fetal Brain Male	brain
33	chr15:72191000-72199200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:72191000-72222800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr15:72191200-72195800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:72191200-72196200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:72191200-72197800	Weak transcription	Right Ventricle	heart
38	chr15:72191200-72198600	Weak transcription	Brain Anterior Caudate	brain
39	chr15:72191200-72200800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:72191200-72206000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:72191200-72206000	Weak transcription	Ovary	ovary
42	chr15:72191200-72229600	Weak transcription	HUVEC	blood vessel
43	chr15:72191600-72198400	Weak transcription	Colonic Mucosa	Colon
44	chr15:72191600-72198600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:72191600-72208000	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:72192200-72198800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr15:72192400-72195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:72192400-72196000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:72192400-72196000	Weak transcription	Osteobl	bone
50	chr15:72192400-72196400	Weak transcription	Brain Germinal Matrix	brain

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