Variant report

Variant	rs17416424
Chromosome Location	chr1:161783291-161783292
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	chr1:161782699..161784512-chr1:161785755..161788106,2	MCF-7	breast:
2	chr1:161781720..161784699-chr20:47904533..47906284,2	K562	blood:

Extended variants
information (count: 33 )
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]
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]
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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	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
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161738600-161794000	Weak transcription	Pancreas	Pancrea
2	chr1:161738600-161795600	Weak transcription	Gastric	stomach
3	chr1:161753400-161800600	Weak transcription	Spleen	Spleen
4	chr1:161755000-161793600	Weak transcription	Colonic Mucosa	Colon
5	chr1:161757400-161797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:161762200-161790600	Weak transcription	Fetal Brain Male	brain
7	chr1:161762400-161790800	Weak transcription	NH-A	brain
8	chr1:161762400-161791200	Weak transcription	Right Ventricle	heart
9	chr1:161762400-161795400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:161762800-161797600	Weak transcription	HMEC	breast
11	chr1:161763000-161797400	Weak transcription	NHLF	lung
12	chr1:161766000-161790800	Weak transcription	Lung	lung
13	chr1:161767400-161791200	Weak transcription	Aorta	Aorta
14	chr1:161768000-161789400	Weak transcription	HepG2	liver
15	chr1:161772200-161789400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:161772600-161785800	Weak transcription	Hela-S3	cervix
17	chr1:161773000-161790600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:161773400-161789800	Weak transcription	Brain Substantia Nigra	brain
19	chr1:161773400-161790800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:161773400-161797200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
22	chr1:161774600-161786000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:161775800-161794800	Weak transcription	Fetal Stomach	stomach
24	chr1:161776400-161787000	Weak transcription	Fetal Heart	heart
25	chr1:161776600-161785800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:161776800-161785800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:161776800-161789400	Weak transcription	Placenta	Placenta
28	chr1:161777600-161786000	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:161780000-161789800	Weak transcription	Ovary	ovary
30	chr1:161780200-161784400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:161780200-161786000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:161780200-161797200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:161780400-161785800	Strong transcription	Liver	Liver
34	chr1:161780400-161791200	Weak transcription	Brain Angular Gyrus	brain
35	chr1:161780400-161791200	Weak transcription	Thymus	Thymus
36	chr1:161780400-161795000	Weak transcription	Esophagus	oesophagus
37	chr1:161780400-161795000	Weak transcription	Left Ventricle	heart
38	chr1:161780400-161798800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:161780400-161824400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:161780600-161783800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:161780600-161783800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:161780600-161786000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:161780600-161789800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:161780600-161790800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:161780600-161790800	Weak transcription	HSMM	muscle
46	chr1:161780600-161791000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:161780600-161791400	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:161780600-161798800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:161780600-161808200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:161780600-161823400	Weak transcription	A549	lung

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