Variant report

Variant	rs11488548
Chromosome Location	chr1:223514408-223514409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223508432..223510410-chr1:223512972..223514710,2	K562	blood:
2	chr1:223505491..223507807-chr1:223513867..223516012,2	K562	blood:
3	chr1:223496498..223499043-chr1:223513776..223516102,2	K562	blood:

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

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

rs_ID	r²[population]
rs17163824	0.87[AFR][1000 genomes]
rs2282399	0.82[AMR][1000 genomes]
rs34482638	0.89[EUR][1000 genomes]
rs34572097	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35059272	0.89[EUR][1000 genomes]
rs35996176	0.89[EUR][1000 genomes]
rs4661241	0.82[AMR][1000 genomes]
rs61838203	0.89[EUR][1000 genomes]
rs61838204	0.89[EUR][1000 genomes]
rs61838211	0.89[EUR][1000 genomes]
rs61838232	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61838233	0.89[EUR][1000 genomes]
rs61838241	0.81[AFR][1000 genomes]
rs61838244	0.89[EUR][1000 genomes]
rs61838245	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs61838249	0.83[AFR][1000 genomes]
rs6604707	0.86[AMR][1000 genomes]
rs825128	0.81[AFR][1000 genomes]
rs862216	0.85[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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223505600-223514800	Weak transcription	Right Atrium	heart
2	chr1:223505600-223521400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:223506600-223526000	Weak transcription	Esophagus	oesophagus
4	chr1:223511200-223517600	Weak transcription	Psoas Muscle	Psoas
5	chr1:223511800-223515600	Enhancers	Left Ventricle	heart
6	chr1:223511800-223515800	Enhancers	Ovary	ovary
7	chr1:223511800-223527000	Enhancers	Fetal Heart	heart
8	chr1:223512600-223515400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:223513200-223515200	Enhancers	Brain Anterior Caudate	brain
10	chr1:223513200-223517200	Weak transcription	Fetal Lung	lung
11	chr1:223513400-223515400	Enhancers	HSMMtube	muscle
12	chr1:223513600-223514800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:223513600-223514800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:223513600-223515200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:223513600-223515200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:223513600-223515200	Enhancers	Right Ventricle	heart
17	chr1:223513600-223515200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:223513800-223514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:223513800-223514600	Enhancers	NH-A	brain
20	chr1:223513800-223514600	Enhancers	NHEK	skin
21	chr1:223513800-223515200	Enhancers	Fetal Thymus	thymus
22	chr1:223513800-223515400	Enhancers	Fetal Muscle Leg	muscle
23	chr1:223513800-223515600	Enhancers	Gastric	stomach
24	chr1:223514000-223514600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:223514000-223514600	Enhancers	Stomach Mucosa	stomach
26	chr1:223514000-223514800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:223514000-223526200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:223514200-223514800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:223514200-223515000	Weak transcription	Brain Angular Gyrus	brain
30	chr1:223514200-223515200	Enhancers	Stomach Smooth Muscle	stomach
31	chr1:223514400-223515000	Weak transcription	Pancreas	Pancrea
32	chr1:223514400-223515200	Enhancers	Fetal Muscle Trunk	muscle
33	chr1:223514400-223515400	Enhancers	HSMM	muscle
34	chr1:223514400-223535800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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