Variant report

Variant	rs2490427
Chromosome Location	chr1:161943070-161943071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161934236..161935963-chr1:161941588..161943984,2	K562	blood:
2	chr1:161934463..161936874-chr1:161938543..161943088,4	K562	blood:
3	chr1:161942432..161944304-chr1:161946800..161948604,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2340717	0.93[EUR][1000 genomes]
rs2340719	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2340722	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2341472	0.85[AMR][1000 genomes]
rs2490425	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2490426	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2490429	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2997506	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4233381	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4657094	0.81[EUR][1000 genomes]
rs4657095	0.81[EUR][1000 genomes]
rs6427628	0.93[EUR][1000 genomes]
rs6687226	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv548078	chr1:161941219-161980502	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161902800-161943400	Weak transcription	Esophagus	oesophagus
2	chr1:161904800-161956600	Weak transcription	Fetal Brain Male	brain
3	chr1:161927000-161944000	Weak transcription	Colonic Mucosa	Colon
4	chr1:161929000-161943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:161929200-161944000	Weak transcription	Ovary	ovary
6	chr1:161931000-161943200	Weak transcription	Placenta	Placenta
7	chr1:161931200-161943400	Weak transcription	Psoas Muscle	Psoas
8	chr1:161931400-161943400	Weak transcription	K562	blood
9	chr1:161932400-161955400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:161932600-161943200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:161932600-161943200	Weak transcription	Right Atrium	heart
12	chr1:161932600-161943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:161932800-161943200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:161932800-161944000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:161933600-161953400	Weak transcription	HSMMtube	muscle
16	chr1:161937400-161944000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:161937600-161954800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:161938000-161944000	Weak transcription	Liver	Liver
19	chr1:161938000-161944000	Weak transcription	Pancreas	Pancrea
20	chr1:161939200-161946000	Enhancers	Fetal Muscle Leg	muscle
21	chr1:161939200-161956600	Weak transcription	Fetal Intestine Small	intestine
22	chr1:161940600-161944000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:161940800-161944000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:161940800-161944000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:161940800-161952200	Weak transcription	Aorta	Aorta
26	chr1:161942000-161943600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:161942000-161944400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr1:161942200-161943600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:161942200-161945200	Enhancers	Colon Smooth Muscle	Colon
30	chr1:161942200-161945200	Enhancers	Right Ventricle	heart
31	chr1:161942200-161951000	Weak transcription	Lung	lung
32	chr1:161942400-161943400	Enhancers	Spleen	Spleen
33	chr1:161942400-161944000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:161942400-161945200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:161942600-161943800	Weak transcription	Fetal Stomach	stomach
36	chr1:161942600-161944400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:161942800-161944000	Enhancers	Gastric	stomach
38	chr1:161942800-161944400	Enhancers	Left Ventricle	heart
39	chr1:161942800-161944400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:161943000-161944800	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:161943000-161951000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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