Variant report

Variant	rs17439074
Chromosome Location	chr5:58888719-58888720
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58879018..58880553-chr5:58887523..58890077,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1035321	0.88[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10491440	0.88[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491441	0.88[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10491442	0.88[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514859	0.88[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950308	0.88[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11951110	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956402	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957151	0.88[CEU][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514190	1.00[ASN][1000 genomes]
rs12520633	0.88[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741863	0.88[CEU][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17797996	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17798319	0.86[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081664	0.88[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007967	1.00[ASN][1000 genomes]
rs62355561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355562	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355581	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355582	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355584	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357524	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357525	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357527	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357530	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372240	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751212	1.00[ASN][1000 genomes]
rs72769726	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72769729	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs893190	0.88[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953302	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58883800-58888800	Enhancers	Hela-S3	cervix
2	chr5:58883800-58894200	Weak transcription	Aorta	Aorta
3	chr5:58884200-58892600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:58884200-58892600	Weak transcription	Osteobl	bone
5	chr5:58884200-58893800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:58884200-58894000	Weak transcription	Right Atrium	heart
7	chr5:58884200-58894200	Weak transcription	Liver	Liver
8	chr5:58884200-58902800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:58884400-58889400	Weak transcription	Brain Angular Gyrus	brain
10	chr5:58884600-58892200	Weak transcription	Small Intestine	intestine
11	chr5:58884600-58892600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:58884600-58893800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:58885000-58892200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:58885000-58894200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:58885200-58892400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:58885200-58892800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:58885400-58892200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:58885400-58892600	Weak transcription	HUVEC	blood vessel
19	chr5:58886800-58892800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:58887000-58892600	Weak transcription	HMEC	breast
21	chr5:58887000-58894200	Weak transcription	Fetal Intestine Large	intestine
22	chr5:58887000-58894200	Weak transcription	GM12878-XiMat	blood
23	chr5:58887200-58889000	Active TSS	A549	lung
24	chr5:58887400-58889200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:58887400-58894000	Weak transcription	Brain Substantia Nigra	brain
26	chr5:58888000-58892200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:58888200-58889400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:58888200-58892200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:58888200-58892600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:58888200-58892600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:58888200-58892800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:58888200-58893000	Weak transcription	Fetal Lung	lung
33	chr5:58888200-58894000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:58888200-58894200	Weak transcription	Psoas Muscle	Psoas
35	chr5:58888400-58888800	Enhancers	NHEK	skin
36	chr5:58888400-58889400	Weak transcription	Fetal Intestine Small	intestine
37	chr5:58888400-58891200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:58888400-58891200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:58888400-58891200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:58888400-58892200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:58888400-58892600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:58888400-58892600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:58888400-58892600	Weak transcription	HSMM	muscle
44	chr5:58888400-58893000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:58888400-58894000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:58888400-58894200	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:58888600-58889000	Weak transcription	Stomach Mucosa	stomach

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