Variant report

Variant	rs17418028
Chromosome Location	chr1:161934952-161934953
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161924382..161927245-chr1:161933374..161935205,2	K562	blood:
2	chr1:161934236..161935963-chr1:161941588..161943984,2	K562	blood:
3	chr1:161934463..161936874-chr1:161938543..161943088,4	K562	blood:

Extended variants
information (count: 36 )
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]
rs17418130	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: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	nsv160321	chr1:161934919-161935325	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161861600-161936000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:161897800-161940000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:161901400-161935400	Weak transcription	Fetal Lung	lung
4	chr1:161902800-161943400	Weak transcription	Esophagus	oesophagus
5	chr1:161904800-161956600	Weak transcription	Fetal Brain Male	brain
6	chr1:161911000-161937200	Weak transcription	Gastric	stomach
7	chr1:161911600-161939400	Weak transcription	HepG2	liver
8	chr1:161912600-161941600	Weak transcription	Fetal Kidney	kidney
9	chr1:161916200-161935600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:161925000-161937600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:161926200-161939400	Weak transcription	Fetal Heart	heart
12	chr1:161926200-161942200	Weak transcription	Right Ventricle	heart
13	chr1:161926800-161935200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:161927000-161944000	Weak transcription	Colonic Mucosa	Colon
15	chr1:161927800-161937600	Strong transcription	Primary B cells from cord blood	blood
16	chr1:161928200-161938000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:161928200-161938800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:161928400-161941800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:161928600-161939000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:161929000-161943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:161929200-161936600	Weak transcription	Thymus	Thymus
22	chr1:161929200-161944000	Weak transcription	Ovary	ovary
23	chr1:161931000-161936600	Weak transcription	Left Ventricle	heart
24	chr1:161931000-161938400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:161931000-161939600	Weak transcription	Fetal Brain Female	brain
26	chr1:161931000-161943200	Weak transcription	Placenta	Placenta
27	chr1:161931200-161935000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:161931200-161935600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:161931200-161936000	Weak transcription	Fetal Stomach	stomach
30	chr1:161931200-161936600	Weak transcription	Pancreas	Pancrea
31	chr1:161931200-161937000	Weak transcription	Lung	lung
32	chr1:161931200-161940400	Weak transcription	Fetal Thymus	thymus
33	chr1:161931200-161940600	Weak transcription	Fetal Intestine Large	intestine
34	chr1:161931200-161942400	Weak transcription	Spleen	Spleen
35	chr1:161931200-161943400	Weak transcription	Psoas Muscle	Psoas
36	chr1:161931400-161935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:161931400-161943400	Weak transcription	K562	blood
38	chr1:161931800-161942800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:161932000-161936800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:161932200-161939400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:161932400-161937000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:161932400-161939200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:161932400-161939400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:161932400-161942200	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:161932400-161955400	Weak transcription	Brain Substantia Nigra	brain
46	chr1:161932600-161935800	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:161932600-161936000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:161932600-161936600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr1:161932600-161936600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:161932600-161938000	Strong transcription	Monocytes-CD14+_RO01746	blood

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