Variant report

Variant	rs11118670
Chromosome Location	chr1:221401658-221401659
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10779428	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10863594	0.83[AMR][1000 genomes]
rs10863596	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12043442	0.94[ASN][1000 genomes]
rs1442461	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1473302	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1891169	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2378454	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2889909	0.93[ASN][1000 genomes]
rs6664199	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7413724	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs751250	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527009	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9431086	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9431087	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9431466	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221400800-221402600	Enhancers	Left Ventricle	heart
2	chr1:221400800-221402800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:221401000-221401800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr1:221401000-221402000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
5	chr1:221401000-221402200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr1:221401000-221402400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:221401000-221402600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:221401000-221402600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:221401000-221402600	Enhancers	Adipose Nuclei	Adipose
10	chr1:221401000-221402600	Enhancers	Fetal Muscle Leg	muscle
11	chr1:221401000-221402600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:221401200-221401800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:221401200-221402200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr1:221401200-221402600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:221401200-221402600	Enhancers	Colon Smooth Muscle	Colon
16	chr1:221401400-221401800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr1:221401400-221401800	Weak transcription	Right Atrium	heart
18	chr1:221401400-221401800	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:221401400-221402400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr1:221401400-221402600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:221401400-221402600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:221401400-221402600	Enhancers	Fetal Heart	heart
23	chr1:221401400-221404400	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:221401600-221401800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
25	chr1:221401600-221402000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr1:221401600-221402200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:221401600-221402400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:221401600-221402600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:221401600-221402600	Enhancers	Skeletal Muscle Female	skeletal muscle

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