Variant report

Variant	rs60238894
Chromosome Location	chr15:44938542-44938543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12324194	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12324710	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12591508	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12591898	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12594463	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12594905	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12594910	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288342	0.85[ASN][1000 genomes]
rs2412909	0.83[ASN][1000 genomes]
rs57451506	0.89[AMR][1000 genomes]
rs58491010	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59891213	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163287	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7165017	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7178318	0.80[ASN][1000 genomes]
rs7179390	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73417597	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8027036	0.83[ASN][1000 genomes]
rs9806511	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1516	chr15:44896162-44941091	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44842000-44951600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:44867400-44954600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:44871200-44951200	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:44890000-44954800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:44897200-44939400	Weak transcription	Stomach Mucosa	stomach
6	chr15:44900600-44943400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:44900800-44955000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:44906200-44943600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:44907800-44943200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:44909400-44943600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:44916200-44947000	Weak transcription	Esophagus	oesophagus
12	chr15:44918000-44952800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr15:44921400-44940600	Weak transcription	Fetal Brain Male	brain
14	chr15:44921600-44939800	Weak transcription	NH-A	brain
15	chr15:44921600-44943400	Weak transcription	Fetal Heart	heart
16	chr15:44922800-44943600	Weak transcription	Gastric	stomach
17	chr15:44923000-44942400	Weak transcription	Right Ventricle	heart
18	chr15:44924200-44938600	Weak transcription	Colonic Mucosa	Colon
19	chr15:44925400-44938600	Weak transcription	Brain Angular Gyrus	brain
20	chr15:44925400-44938600	Weak transcription	NHLF	lung
21	chr15:44925400-44939200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr15:44925400-44947400	Weak transcription	HSMMtube	muscle
23	chr15:44925800-44938800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:44926200-44938600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:44926400-44938800	Weak transcription	NHEK	skin
26	chr15:44926400-44952800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:44928400-44938600	Weak transcription	Small Intestine	intestine
28	chr15:44928400-44939200	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:44930000-44938600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:44930000-44938600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:44930200-44938600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr15:44930200-44938800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:44930200-44939000	Weak transcription	NHDF-Ad	bronchial
34	chr15:44930200-44947000	Weak transcription	A549	lung
35	chr15:44930400-44938600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr15:44930400-44938600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:44930400-44939800	Weak transcription	Fetal Brain Female	brain
38	chr15:44930400-44943600	Weak transcription	HepG2	liver
39	chr15:44930600-44938600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:44930600-44938600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:44931600-44938600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:44932800-44941200	Strong transcription	Primary B cells from cord blood	blood
43	chr15:44933000-44938800	Weak transcription	Hela-S3	cervix
44	chr15:44934400-44939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:44934400-44940400	Weak transcription	Fetal Stomach	stomach
46	chr15:44935800-44950200	Strong transcription	Primary T cells from cord blood	blood
47	chr15:44936000-44943600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:44936200-44938600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:44936400-44951600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr15:44936800-44953000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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