Variant report

Variant	rs56169721
Chromosome Location	chr1:225777209-225777210
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225774139..225778253-chr1:225781548..225783833,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10449249	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10915829	0.87[ASN][1000 genomes]
rs11377355	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022013	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026034	0.87[ASN][1000 genomes]
rs12031208	0.83[ASN][1000 genomes]
rs12031651	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12037289	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038373	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12042273	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042698	0.80[ASN][1000 genomes]
rs12239415	0.82[ASN][1000 genomes]
rs1340870	0.83[ASN][1000 genomes]
rs1340871	0.87[ASN][1000 genomes]
rs1340872	0.87[ASN][1000 genomes]
rs16845000	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2184778	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2185531	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296880	0.89[EUR][1000 genomes]
rs2297747	0.83[ASN][1000 genomes]
rs28620013	0.87[ASN][1000 genomes]
rs3766931	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3795443	0.84[ASN][1000 genomes]
rs4129816	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55751087	0.81[ASN][1000 genomes]
rs58269599	0.87[ASN][1000 genomes]
rs58696877	0.81[EUR][1000 genomes]
rs59912270	0.87[ASN][1000 genomes]
rs61333083	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6674621	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681559	0.87[ASN][1000 genomes]
rs6684314	0.87[ASN][1000 genomes]
rs6684956	0.85[ASN][1000 genomes]
rs6694938	0.84[ASN][1000 genomes]
rs74146931	0.82[ASN][1000 genomes]
rs74146994	0.87[ASN][1000 genomes]
rs74149835	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74149844	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7415548	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7543444	0.94[EUR][1000 genomes];1.00[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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56169721	LBR	cis	Esophagus Muscularis	GTEx
rs56169721	LBR	cis	Artery Tibial	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225748800-225799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:225749200-225783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:225759600-225787600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:225766400-225780000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:225766400-225783600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:225766600-225779600	Weak transcription	NH-A	brain
8	chr1:225768400-225781200	Weak transcription	Right Ventricle	heart
9	chr1:225768600-225787800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:225768800-225781000	Weak transcription	HSMM	muscle
11	chr1:225768800-225805600	Weak transcription	Aorta	Aorta
12	chr1:225769000-225783000	Weak transcription	HSMMtube	muscle
13	chr1:225769200-225779800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:225769200-225783200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:225769400-225779600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:225770000-225780000	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:225770000-225782000	Weak transcription	Right Atrium	heart
18	chr1:225770000-225783200	Weak transcription	Psoas Muscle	Psoas
19	chr1:225770000-225785200	Weak transcription	Left Ventricle	heart
20	chr1:225770000-225787600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:225770200-225779600	Weak transcription	Fetal Lung	lung
22	chr1:225770400-225778200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:225770400-225780000	Weak transcription	Ovary	ovary
24	chr1:225770600-225777800	Weak transcription	Fetal Heart	heart
25	chr1:225770600-225778200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:225770600-225779600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:225770600-225779800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:225770800-225781800	Weak transcription	Osteobl	bone
29	chr1:225771000-225779600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:225771000-225784000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:225774000-225780600	Weak transcription	Fetal Stomach	stomach
32	chr1:225774000-225781000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:225774800-225793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:225775000-225778600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:225775600-225781200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:225775800-225778800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:225776000-225777400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:225776200-225781400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:225776400-225797200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:225776600-225777400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:225776600-225778600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:225776800-225781000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:225777000-225778000	Weak transcription	A549	lung
44	chr1:225777000-225779800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:225777000-225781000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:225777000-225781600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:225777000-225793400	Weak transcription	Pancreas	Pancrea

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