Variant report

Variant	rs2447216
Chromosome Location	chr15:43942270-43942271
allele	A/C
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	FOXA2	chr15:43942255-43942985	A549	lung:	n/a	n/a

Variant related genes	Relation type
CATSPER2	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2447195	0.84[EUR][1000 genomes]
rs2447210	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2447215	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2470120	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28366727	0.88[EUR][1000 genomes]
rs28758851	0.86[EUR][1000 genomes]
rs2920782	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2927070	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2927071	0.88[EUR][1000 genomes]
rs2957636	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2957639	0.88[EUR][1000 genomes]
rs3099045	0.89[EUR][1000 genomes]
rs3099047	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv437799	chr15:43784000-43989518	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv832988	chr15:43804641-43976862	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv428304	chr15:43823158-44008580	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
7	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv428633	chr15:43823160-44008580	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1039949	chr15:43831879-43992646	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	esv2757598	chr15:43831923-44058634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	esv2761766	chr15:43834318-44014255	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv904148	chr15:43836478-43961204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv904149	chr15:43836478-44011113	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv904150	chr15:43836478-44040965	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
16	nsv1039818	chr15:43845410-43988541	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv1048041	chr15:43845410-43991014	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	esv2760393	chr15:43845422-44024490	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv870240	chr15:43851142-43988761	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv534652	chr15:43851548-43948346	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv994950	chr15:43851548-43951301	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv904153	chr15:43852043-43951118	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv904154	chr15:43852043-43961204	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv904155	chr15:43852043-43988573	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	nsv904156	chr15:43852043-44011113	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
26	nsv904157	chr15:43852043-44019592	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
27	nsv904158	chr15:43852043-44053617	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
28	esv3413623	chr15:43852060-43973058	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
29	esv13634	chr15:43852144-43988641	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
30	esv3506095	chr15:43853954-43953553	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
31	esv3506097	chr15:43853954-43953553	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
32	nsv1514	chr15:43859260-43996580	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
33	nsv904161	chr15:43873489-43961204	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
34	nsv904162	chr15:43873489-44011113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
35	nsv904163	chr15:43873489-44023963	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
36	esv2421427	chr15:43885118-43988553	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
37	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
38	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
39	nsv868983	chr15:43888927-43951301	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
40	nsv915702	chr15:43888952-43951317	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
41	esv33424	chr15:43888955-43995223	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
42	esv3443586	chr15:43889625-43973121	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
43	nsv569245	chr15:43891512-43980509	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
44	nsv569246	chr15:43891512-43980721	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
45	nsv1035221	chr15:43893072-43976406	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
46	nsv1036941	chr15:43893072-43988312	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
47	nsv1047829	chr15:43893072-43988541	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
48	nsv1037061	chr15:43893072-43990416	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
49	nsv1040028	chr15:43893072-43992646	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
50	nsv1049269	chr15:43893072-43995876	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2447216	AC011330.5	cis	Thyroid	GTEx
rs2447216	AC011330.5	cis	Artery Tibial	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43921400-43950400	Weak transcription	Aorta	Aorta
2	chr15:43921800-43952600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:43923200-43951800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:43931200-43943600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:43931200-43952000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:43931200-43952600	Weak transcription	Left Ventricle	heart
7	chr15:43931400-43942400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:43932800-43943600	Weak transcription	NHEK	skin
9	chr15:43935400-43943200	Weak transcription	Ovary	ovary
10	chr15:43936000-43951800	Weak transcription	Primary T cells from cord blood	blood
11	chr15:43936000-43956000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:43936400-43943800	Weak transcription	Fetal Brain Male	brain
13	chr15:43937200-43943200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr15:43937600-43943400	Weak transcription	Adipose Nuclei	Adipose
15	chr15:43937600-43943400	Weak transcription	Brain Germinal Matrix	brain
16	chr15:43937800-43943200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:43938200-43943600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:43939000-43942400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr15:43939200-43942400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:43939200-43951000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:43939400-43943600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr15:43939800-43942400	Weak transcription	Placenta	Placenta
23	chr15:43940200-43942400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:43940600-43942400	Strong transcription	Gastric	stomach
25	chr15:43940600-43943600	Weak transcription	Brain Angular Gyrus	brain
26	chr15:43940800-43943000	Weak transcription	Colonic Mucosa	Colon
27	chr15:43940800-43943200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:43940800-43943600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr15:43941000-43942400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:43941000-43942400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:43941000-43942400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:43941200-43942600	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr15:43941400-43942400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:43941600-43942400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr15:43941800-43942400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:43941800-43943400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:43941800-43943400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:43941800-43944600	Weak transcription	Lung	lung
39	chr15:43941800-43951800	Weak transcription	Fetal Stomach	stomach
40	chr15:43942000-43942400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
41	chr15:43942000-43943600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:43942000-43943600	Weak transcription	Brain Anterior Caudate	brain
43	chr15:43942000-43951200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:43942000-43992400	Weak transcription	Fetal Intestine Small	intestine
45	chr15:43942200-43942400	Enhancers	Esophagus	oesophagus
46	chr15:43942200-43942400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr15:43942200-43943200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:43942200-43943800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:43942200-43943800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:43942200-43943800	Weak transcription	Primary T cells fromperipheralblood	blood

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