Variant report

Variant	rs11164978
Chromosome Location	chr1:92043661-92043662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92037546..92039285-chr1:92042133..92044413,2	K562	blood:
2	chr1:92040278..92042604-chr1:92043296..92045130,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10458506	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10874794	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874796	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11165002	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11165008	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11165013	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12048543	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12117800	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4658235	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4658236	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6604044	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6604045	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6677520	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs906633	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92035800-92047600	Weak transcription	Ovary	ovary
2	chr1:92035800-92048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:92036000-92043800	Weak transcription	A549	lung
4	chr1:92036000-92043800	Weak transcription	K562	blood
5	chr1:92036000-92044600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:92036200-92044400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:92036400-92051000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:92037200-92045600	Enhancers	Fetal Stomach	stomach
9	chr1:92038000-92044400	Weak transcription	Lung	lung
10	chr1:92038000-92045200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:92038200-92049000	Weak transcription	Right Atrium	heart
12	chr1:92039800-92047200	Enhancers	Fetal Heart	heart
13	chr1:92041800-92051200	Weak transcription	Fetal Brain Male	brain
14	chr1:92042000-92043800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:92042000-92048200	Weak transcription	Fetal Kidney	kidney
16	chr1:92042200-92044200	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:92042200-92047600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:92042400-92043800	Enhancers	Left Ventricle	heart
19	chr1:92042400-92043800	Enhancers	Dnd41	blood
20	chr1:92042600-92044800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:92042600-92046200	Enhancers	Fetal Lung	lung
22	chr1:92042800-92043800	Weak transcription	NHLF	lung
23	chr1:92042800-92044600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:92043000-92049000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:92043200-92046200	Enhancers	Colon Smooth Muscle	Colon
26	chr1:92043400-92044800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:92043400-92045000	Enhancers	NHDF-Ad	bronchial
28	chr1:92043400-92045400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:92043400-92046000	Enhancers	Rectal Smooth Muscle	rectum
30	chr1:92043400-92046400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:92043600-92044600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:92043600-92044600	Enhancers	Placenta	Placenta
33	chr1:92043600-92044800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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