Variant report

Variant	rs17448307
Chromosome Location	chr1:161791340-161791341
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161784877..161787904-chr1:161789493..161792742,3	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]
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]
rs17418130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17418389	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:114 , 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	chr1:161762400-161795400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:161762800-161797600	Weak transcription	HMEC	breast
8	chr1:161763000-161797400	Weak transcription	NHLF	lung
9	chr1:161773400-161797200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
11	chr1:161775800-161794800	Weak transcription	Fetal Stomach	stomach
12	chr1:161780200-161797200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:161780400-161795000	Weak transcription	Esophagus	oesophagus
14	chr1:161780400-161795000	Weak transcription	Left Ventricle	heart
15	chr1:161780400-161798800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:161780400-161824400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:161780600-161791400	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:161780600-161798800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:161780600-161808200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:161780600-161823400	Weak transcription	A549	lung
21	chr1:161780600-161836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:161780800-161795000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:161780800-161795200	Weak transcription	Brain Germinal Matrix	brain
24	chr1:161780800-161795600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:161780800-161797600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:161780800-161798200	Weak transcription	Psoas Muscle	Psoas
27	chr1:161780800-161812400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:161780800-161823000	Weak transcription	HSMMtube	muscle
29	chr1:161780800-161825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:161780800-161834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:161781000-161823000	Weak transcription	Fetal Kidney	kidney
32	chr1:161781200-161796600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:161781400-161801000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:161783200-161795400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:161785400-161822400	Weak transcription	Fetal Intestine Small	intestine
36	chr1:161786000-161797000	Weak transcription	Osteobl	bone
37	chr1:161786800-161797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:161786800-161797200	Weak transcription	Hela-S3	cervix
39	chr1:161787400-161804600	Weak transcription	NHDF-Ad	bronchial
40	chr1:161787600-161797000	Weak transcription	Fetal Heart	heart
41	chr1:161787600-161809800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:161787600-161821000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:161788000-161792800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:161788200-161792200	Strong transcription	Primary B cells from cord blood	blood
45	chr1:161788600-161795000	Weak transcription	Stomach Mucosa	stomach
46	chr1:161788800-161796400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:161789000-161792000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:161789200-161795200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:161789400-161791400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:161789400-161791600	Strong transcription	HepG2	liver

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