Variant report

Variant	rs61300240
Chromosome Location	chr15:76502252-76502253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:76487953..76490483-chr15:76500123..76503783,3	K562	blood:
2	chr15:76495383..76497308-chr15:76500785..76502809,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs11072576	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072577	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072578	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072579	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072583	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11072585	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11072587	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11629459	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11631690	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11631764	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11631874	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11633405	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11634060	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11634472	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11634796	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11636278	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11636851	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11637473	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11637855	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050813	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12050896	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12443449	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12595211	0.82[ASN][1000 genomes]
rs12916022	0.82[ASN][1000 genomes]
rs1474117	0.82[ASN][1000 genomes]
rs16968083	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1850722	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1875887	0.91[ASN][1000 genomes]
rs1875888	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2007928	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2016734	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404974	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2456049	0.93[ASN][1000 genomes]
rs2456050	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2456057	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2456071	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2469548	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2938697	0.90[ASN][1000 genomes]
rs34213321	0.82[ASN][1000 genomes]
rs35831705	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784449	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3898352	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3915459	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3915460	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3927264	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3958426	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3991792	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3991793	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3991794	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4592616	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4886484	0.81[ASN][1000 genomes]
rs4886485	0.81[ASN][1000 genomes]
rs4886486	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4886487	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4886488	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4886777	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886779	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886780	0.86[AMR][1000 genomes]
rs4886781	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886783	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886784	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886787	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886789	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4886791	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5012144	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55794488	0.84[AMR][1000 genomes]
rs55805818	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56737606	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57182285	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60017340	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60290059	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60371615	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60561507	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61018254	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61275737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027018	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62027047	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62027048	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62030232	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030245	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62030246	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6495197	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7177923	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7179750	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7180462	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8028504	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8029637	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8030454	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8033494	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039063	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs869452	0.81[ASN][1000 genomes]
rs870295	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs879625	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs883993	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937732	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs937733	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs959991	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1054713	chr15:76460462-76505906	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs61300240	SCAPER	cis	Whole Blood	GTEx
rs61300240	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs61300240	SCAPER	cis	lung	GTEx
rs61300240	SCAPER	cis	Artery Tibial	GTEx
rs61300240	SCAPER	cis	Thyroid	GTEx
rs61300240	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs61300240	ISL2	cis	Whole Blood	GTEx
rs61300240	RP11-593F23.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76486800-76503000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:76486800-76516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr15:76489400-76502800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:76489400-76519800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:76489600-76503000	Weak transcription	Small Intestine	intestine
6	chr15:76490000-76503600	Weak transcription	HUVEC	blood vessel
7	chr15:76491400-76502800	Weak transcription	HMEC	breast
8	chr15:76492000-76503600	Weak transcription	NHDF-Ad	bronchial
9	chr15:76492000-76509600	Weak transcription	K562	blood
10	chr15:76492400-76503200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:76492400-76503200	Weak transcription	NHLF	lung
12	chr15:76492400-76503200	Weak transcription	Osteobl	bone
13	chr15:76492400-76510000	Strong transcription	Placenta	Placenta
14	chr15:76492600-76507000	Weak transcription	NH-A	brain
15	chr15:76492800-76506200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:76492800-76517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr15:76492800-76526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr15:76493000-76504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:76493200-76507800	Strong transcription	Fetal Stomach	stomach
20	chr15:76493400-76504400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:76493600-76506800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:76493600-76526400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:76494600-76510400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:76495400-76510400	Strong transcription	Adipose Nuclei	Adipose
25	chr15:76495800-76508600	Strong transcription	A549	lung
26	chr15:76496200-76503000	Weak transcription	HSMMtube	muscle
27	chr15:76496200-76510400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:76496400-76502400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:76497000-76518200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr15:76497400-76509400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:76497600-76505600	Weak transcription	Ovary	ovary
32	chr15:76498200-76506400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:76498200-76508800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr15:76498200-76509200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:76498200-76510200	Strong transcription	Fetal Intestine Large	intestine
36	chr15:76498200-76511000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr15:76498200-76511600	Strong transcription	Primary T cells from cord blood	blood
38	chr15:76498400-76503000	Weak transcription	Gastric	stomach
39	chr15:76498400-76510600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr15:76498600-76506000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr15:76498600-76510400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr15:76499000-76503200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:76499200-76502800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:76499200-76503000	Weak transcription	Fetal Brain Female	brain
45	chr15:76499200-76503000	Weak transcription	Pancreas	Pancrea
46	chr15:76499200-76503200	Weak transcription	Brain Anterior Caudate	brain
47	chr15:76499200-76503200	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:76499200-76503200	Weak transcription	Hela-S3	cervix
49	chr15:76499200-76503800	Weak transcription	Colon Smooth Muscle	Colon
50	chr15:76499200-76504000	Weak transcription	Brain Substantia Nigra	brain

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