Variant report

Variant	rs2414608
Chromosome Location	chr15:59023612-59023613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59021784..59023726-chr15:59040187..59042345,2	K562	blood:
2	chr15:59022433..59024447-chr15:59041685..59043916,2	K562	blood:
3	chr15:59023017..59026002-chr15:59026211..59028184,2	K562	blood:
4	chr15:59021059..59023749-chr15:59034779..59037397,2	K562	blood:

Variant related genes	Relation type
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12437952	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12439231	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12440267	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12441313	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12441912	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12591310	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12900343	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12905110	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12908261	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12910927	0.85[EUR][1000 genomes]
rs12912327	0.81[AMR][1000 genomes]
rs12913383	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12917083	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1426652	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17236194	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17301954	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28470809	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28470867	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28489732	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28510910	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28536555	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28549001	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28733370	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28793354	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28818840	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35956992	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6494034	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6494038	0.84[EUR][1000 genomes]
rs7163939	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7165019	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7168825	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7169205	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7169796	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8025383	0.81[ASN][1000 genomes]
rs8029805	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8033691	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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 target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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 target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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 target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:58992000-59023800	Weak transcription	Aorta	Aorta
3	chr15:58999000-59023800	Weak transcription	Gastric	stomach
4	chr15:59005800-59025200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:59006200-59023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:59006200-59024000	Weak transcription	Pancreas	Pancrea
7	chr15:59007400-59026400	Weak transcription	Fetal Intestine Large	intestine
8	chr15:59008600-59028400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:59009600-59029600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:59009800-59035400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:59010200-59024000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:59010200-59024200	Weak transcription	HepG2	liver
13	chr15:59010800-59031200	Weak transcription	Dnd41	blood
14	chr15:59011200-59023800	Weak transcription	Hela-S3	cervix
15	chr15:59013200-59030200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:59013400-59024000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:59013400-59029800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr15:59015000-59024200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr15:59016800-59025000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr15:59016800-59034200	Weak transcription	Brain Germinal Matrix	brain
21	chr15:59017000-59023800	Weak transcription	Fetal Heart	heart
22	chr15:59017000-59024000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr15:59017200-59023800	Weak transcription	Adipose Nuclei	Adipose
24	chr15:59017200-59023800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:59017200-59023800	Weak transcription	K562	blood
26	chr15:59017200-59023800	Weak transcription	NH-A	brain
27	chr15:59017200-59027400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:59017200-59034400	Weak transcription	Fetal Kidney	kidney
29	chr15:59017400-59023800	Weak transcription	Right Ventricle	heart
30	chr15:59017400-59023800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:59017400-59024000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:59017400-59024000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:59017400-59024000	Weak transcription	Small Intestine	intestine
34	chr15:59017400-59029000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:59018200-59023800	Weak transcription	NHLF	lung
36	chr15:59018400-59023800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:59018800-59023800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:59019000-59023800	Weak transcription	A549	lung
39	chr15:59019000-59023800	Weak transcription	NHDF-Ad	bronchial
40	chr15:59019400-59024200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr15:59019800-59024600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:59021000-59025600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr15:59021200-59024000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr15:59021400-59023800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr15:59021600-59025600	Enhancers	Left Ventricle	heart
46	chr15:59021600-59025800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr15:59021800-59029000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:59021800-59029600	Weak transcription	Fetal Lung	lung
49	chr15:59022000-59023800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:59022000-59025200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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