Variant report

Variant	rs61838241
Chromosome Location	chr1:223512468-223512469
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223510081..223513953-chr1:223514794..223517151,3	K562	blood:
2	chr1:223503941..223506228-chr1:223511294..223513326,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10495207	0.82[EUR][1000 genomes]
rs11488548	0.81[AFR][1000 genomes]
rs1518040	0.81[AFR][1000 genomes]
rs1547788	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1619227	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1713220	0.89[AMR][1000 genomes]
rs17162008	0.82[EUR][1000 genomes]
rs17163789	0.81[AFR][1000 genomes]
rs17163816	0.82[AFR][1000 genomes]
rs17163818	0.86[AFR][1000 genomes]
rs17163824	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163825	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17163828	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17163831	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17539583	0.84[EUR][1000 genomes]
rs17578168	0.84[EUR][1000 genomes]
rs17578203	0.84[EUR][1000 genomes]
rs1829308	0.84[AFR][1000 genomes]
rs1829309	0.84[AFR][1000 genomes]
rs1850562	0.81[AFR][1000 genomes]
rs2096082	0.81[AFR][1000 genomes]
rs2176504	0.81[AFR][1000 genomes]
rs2176505	0.81[AFR][1000 genomes]
rs2176506	0.81[AFR][1000 genomes]
rs2459849	0.89[AMR][1000 genomes]
rs2487521	0.89[AMR][1000 genomes]
rs2678377	0.89[AMR][1000 genomes]
rs34468460	0.80[AFR][1000 genomes]
rs34572097	0.87[AFR][1000 genomes]
rs35318812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4661238	0.81[AFR][1000 genomes]
rs4661239	0.81[AFR][1000 genomes]
rs61838230	0.80[EUR][1000 genomes]
rs61838231	0.80[EUR][1000 genomes]
rs61838234	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838235	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61838236	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838237	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838238	0.84[EUR][1000 genomes]
rs61838239	0.84[EUR][1000 genomes]
rs61838240	0.84[EUR][1000 genomes]
rs61838243	0.84[EUR][1000 genomes]
rs61838246	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61838249	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61838250	0.86[EUR][1000 genomes]
rs6604709	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66531524	0.84[AFR][1000 genomes]
rs66768536	0.81[AFR][1000 genomes]
rs66867621	0.81[AFR][1000 genomes]
rs67707169	0.82[AFR][1000 genomes]
rs7536652	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541162	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555607	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs825127	0.87[AFR][1000 genomes]
rs870486	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9442046	0.88[AMR][1000 genomes];0.90[EUR][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	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1010798	chr1:223498145-223538989	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61838241	SUSD4	cis	Heart Left Ventricle	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223497200-223512600	Weak transcription	Pancreas	Pancrea
2	chr1:223505600-223512600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:223505600-223514800	Weak transcription	Right Atrium	heart
4	chr1:223505600-223521400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:223505800-223513000	Weak transcription	Fetal Lung	lung
6	chr1:223506600-223526000	Weak transcription	Esophagus	oesophagus
7	chr1:223510800-223512800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:223511200-223513200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:223511200-223513600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:223511200-223517600	Weak transcription	Psoas Muscle	Psoas
11	chr1:223511800-223514200	Enhancers	Brain Angular Gyrus	brain
12	chr1:223511800-223515600	Enhancers	Left Ventricle	heart
13	chr1:223511800-223515800	Enhancers	Ovary	ovary
14	chr1:223511800-223527000	Enhancers	Fetal Heart	heart
15	chr1:223512000-223512600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:223512000-223512600	Enhancers	Right Ventricle	heart
17	chr1:223512000-223513000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:223512000-223513600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:223512000-223513800	Weak transcription	Fetal Thymus	thymus
20	chr1:223512200-223512800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:223512400-223512600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:223512400-223512600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:223512400-223512600	Enhancers	Fetal Muscle Leg	muscle
24	chr1:223512400-223512800	Enhancers	NH-A	brain
25	chr1:223512400-223513200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:223512400-223513400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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