Variant report

Variant	rs28795465
Chromosome Location	chr15:72869962-72869963
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	POLR2A	chr15:72869891-72870018	A549	lung:	n/a	n/a
2	POLR2A	chr15:72869784-72869972	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:14226515..14228688-chr15:72869488..72872468,2	K562	blood:

Variant related genes	Relation type
ARIH1	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10220917	1.00[ASN][1000 genomes]
rs11072372	1.00[ASN][1000 genomes]
rs12324592	1.00[ASN][1000 genomes]
rs12439127	1.00[ASN][1000 genomes]
rs12903882	1.00[ASN][1000 genomes]
rs13379855	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16953788	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956759	1.00[ASN][1000 genomes]
rs16956826	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16957154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957189	1.00[ASN][1000 genomes]
rs1816645	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1963894	1.00[ASN][1000 genomes]
rs28393893	1.00[ASN][1000 genomes]
rs28422889	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28435710	1.00[ASN][1000 genomes]
rs28437631	1.00[EUR][1000 genomes]
rs28439115	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28453701	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28471053	1.00[ASN][1000 genomes]
rs28488862	1.00[ASN][1000 genomes]
rs28493570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28534054	1.00[ASN][1000 genomes]
rs28541481	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28832330	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28853391	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4777516	1.00[ASN][1000 genomes]
rs6495002	1.00[ASN][1000 genomes]
rs72735194	1.00[ASN][1000 genomes]
rs73440562	1.00[ASN][1000 genomes]
rs73440566	1.00[ASN][1000 genomes]
rs73440586	1.00[ASN][1000 genomes]
rs73442510	1.00[ASN][1000 genomes]
rs8039489	1.00[ASN][1000 genomes]
rs9806212	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9806258	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9806374	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9944261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv569947	chr15:72800853-72878772	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv569948	chr15:72811402-72878772	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv521972	chr15:72859770-72878772	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72829200-72880800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:72833600-72870200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:72833600-72870400	Weak transcription	Gastric	stomach
4	chr15:72835200-72876000	Weak transcription	Pancreas	Pancrea
5	chr15:72835600-72870400	Weak transcription	Spleen	Spleen
6	chr15:72836600-72870000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:72838800-72870400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:72841000-72909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:72844400-72870000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:72844600-72870400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:72846600-72878400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:72846800-72870200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:72847000-72878400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr15:72847200-72870000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr15:72847800-72878000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr15:72847800-72878400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr15:72849000-72870200	Weak transcription	Fetal Brain Male	brain
18	chr15:72850200-72880800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:72851400-72877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:72852000-72878800	Strong transcription	Placenta	Placenta
21	chr15:72852600-72870800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:72852800-72878400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr15:72853000-72872600	Weak transcription	Stomach Mucosa	stomach
24	chr15:72853600-72879800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:72854200-72870600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:72854400-72879400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:72855000-72871200	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:72855200-72878400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr15:72855800-72879800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:72856000-72876000	Weak transcription	Esophagus	oesophagus
31	chr15:72857000-72871400	Strong transcription	Adipose Nuclei	Adipose
32	chr15:72857400-72873000	Weak transcription	NHLF	lung
33	chr15:72857400-72878400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr15:72857400-72881000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr15:72857800-72870000	Weak transcription	Brain Germinal Matrix	brain
36	chr15:72857800-72870400	Weak transcription	Small Intestine	intestine
37	chr15:72858200-72878600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr15:72858400-72878200	Strong transcription	Primary T cells from cord blood	blood
39	chr15:72858800-72871200	Strong transcription	Fetal Muscle Leg	muscle
40	chr15:72859200-72880000	Strong transcription	Liver	Liver
41	chr15:72860000-72870400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr15:72860000-72871200	Weak transcription	Psoas Muscle	Psoas
43	chr15:72860200-72870000	Weak transcription	Brain Substantia Nigra	brain
44	chr15:72860200-72870400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr15:72860200-72873000	Weak transcription	Brain Angular Gyrus	brain
46	chr15:72860800-72870400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:72861000-72878800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:72861200-72870000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:72861200-72870400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:72861200-72871000	Strong transcription	Fetal Intestine Large	intestine

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