Variant report

Variant	rs17418130
Chromosome Location	chr1:161936618-161936619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161934463..161936874-chr1:161938543..161943088,4	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17408026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17409485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17415553	1.00[AMR][1000 genomes]
rs17416424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17416633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17416920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17417198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17417647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17418028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17418389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17448307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17448571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2490419	1.00[AMR][1000 genomes]
rs2490421	1.00[AMR][1000 genomes]
rs2499837	1.00[AMR][1000 genomes]
rs35284289	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36108216	1.00[AMR][1000 genomes]
rs41271949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5014880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809502	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161897800-161940000	Weak transcription	Brain Germinal Matrix	brain
2	chr1:161902800-161943400	Weak transcription	Esophagus	oesophagus
3	chr1:161904800-161956600	Weak transcription	Fetal Brain Male	brain
4	chr1:161911000-161937200	Weak transcription	Gastric	stomach
5	chr1:161911600-161939400	Weak transcription	HepG2	liver
6	chr1:161912600-161941600	Weak transcription	Fetal Kidney	kidney
7	chr1:161925000-161937600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:161926200-161939400	Weak transcription	Fetal Heart	heart
9	chr1:161926200-161942200	Weak transcription	Right Ventricle	heart
10	chr1:161927000-161944000	Weak transcription	Colonic Mucosa	Colon
11	chr1:161927800-161937600	Strong transcription	Primary B cells from cord blood	blood
12	chr1:161928200-161938000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:161928200-161938800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:161928400-161941800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:161928600-161939000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:161929000-161943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:161929200-161944000	Weak transcription	Ovary	ovary
18	chr1:161931000-161938400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:161931000-161939600	Weak transcription	Fetal Brain Female	brain
20	chr1:161931000-161943200	Weak transcription	Placenta	Placenta
21	chr1:161931200-161937000	Weak transcription	Lung	lung
22	chr1:161931200-161940400	Weak transcription	Fetal Thymus	thymus
23	chr1:161931200-161940600	Weak transcription	Fetal Intestine Large	intestine
24	chr1:161931200-161942400	Weak transcription	Spleen	Spleen
25	chr1:161931200-161943400	Weak transcription	Psoas Muscle	Psoas
26	chr1:161931400-161943400	Weak transcription	K562	blood
27	chr1:161931800-161942800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:161932000-161936800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:161932200-161939400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:161932400-161937000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:161932400-161939200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:161932400-161939400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:161932400-161942200	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:161932400-161955400	Weak transcription	Brain Substantia Nigra	brain
35	chr1:161932600-161938000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:161932600-161938200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:161932600-161939200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:161932600-161940200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:161932600-161940400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:161932600-161940400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:161932600-161940400	Weak transcription	Brain Anterior Caudate	brain
42	chr1:161932600-161943200	Weak transcription	Adipose Nuclei	Adipose
43	chr1:161932600-161943200	Weak transcription	Right Atrium	heart
44	chr1:161932600-161943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:161932800-161938200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:161932800-161940200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:161932800-161943200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:161932800-161944000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:161933000-161938000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:161933000-161938600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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