Variant report

Variant	rs11118515
Chromosome Location	chr1:220474024-220474025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220471708..220473237-chr1:220473384..220475197,2	K562	blood:
2	chr1:220445466..220447229-chr1:220473362..220475083,2	K562	blood:
3	chr1:220463505..220465025-chr1:220472451..220474318,2	K562	blood:
4	chr1:220472146..220476352-chr1:220476366..220479931,4	K562	blood:
5	chr1:220444172..220447229-chr1:220471859..220475083,5	K562	blood:
6	chr1:220466641..220469132-chr1:220471949..220474218,2	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10863544	0.89[ASN][1000 genomes]
rs11118525	0.89[ASN][1000 genomes]
rs11118526	0.89[ASN][1000 genomes]
rs11118527	0.89[ASN][1000 genomes]
rs11118531	0.89[ASN][1000 genomes]
rs12067541	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12075594	0.89[ASN][1000 genomes]
rs12076897	0.89[ASN][1000 genomes]
rs12077296	0.89[ASN][1000 genomes]
rs12083681	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12087896	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12089334	0.89[ASN][1000 genomes]
rs12093982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12097735	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12568195	0.89[ASN][1000 genomes]
rs17565835	0.91[EUR][1000 genomes]
rs17567955	0.89[ASN][1000 genomes]
rs1912813	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6657633	0.89[ASN][1000 genomes]
rs925445	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9970755	0.89[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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220472600-220474400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:220473200-220474800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:220473400-220474400	Enhancers	Fetal Muscle Leg	muscle
4	chr1:220473400-220474600	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:220473400-220474800	Enhancers	HUVEC	blood vessel
6	chr1:220473400-220475200	Enhancers	NH-A	brain
7	chr1:220473400-220475400	Enhancers	NHDF-Ad	bronchial
8	chr1:220473600-220474200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:220473600-220474200	Enhancers	Fetal Stomach	stomach
10	chr1:220473600-220474200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:220473600-220474400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:220473600-220474400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:220473600-220474400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:220473600-220474400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:220473600-220474400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:220473600-220474400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:220473600-220474400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:220473600-220474400	Enhancers	HMEC	breast
19	chr1:220473600-220474400	Enhancers	NHLF	lung
20	chr1:220473600-220474600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:220473600-220474600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:220473800-220474200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:220473800-220474200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:220473800-220474200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:220473800-220474200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr1:220473800-220474200	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr1:220473800-220474200	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr1:220473800-220474200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr1:220473800-220474200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:220473800-220474200	Enhancers	Fetal Brain Female	brain
31	chr1:220473800-220474200	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr1:220473800-220474200	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr1:220473800-220474200	Enhancers	HSMM	muscle
34	chr1:220473800-220474200	Enhancers	HSMMtube	muscle
35	chr1:220473800-220474400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:220473800-220474400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:220473800-220474400	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr1:220473800-220474400	Active TSS	Aorta	Aorta
39	chr1:220473800-220474400	Enhancers	Fetal Kidney	kidney
40	chr1:220473800-220474400	Enhancers	Fetal Lung	lung
41	chr1:220473800-220474400	Enhancers	Lung	lung
42	chr1:220473800-220474400	Flanking Active TSS	K562	blood
43	chr1:220473800-220474600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr1:220473800-220474600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:220473800-220474600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:220473800-220474600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:220473800-220474600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:220473800-220474600	Enhancers	Left Ventricle	heart
49	chr1:220473800-220474800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:220473800-220475000	Enhancers	Fetal Heart	heart

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