Variant report

Variant	rs59596395
Chromosome Location	chr5:70849397-70849398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70848453..70850965-chr5:70856159..70858159,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34768748	1.00[AMR][1000 genomes]
rs60977492	1.00[AMR][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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv882177	chr5:70800538-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv882178	chr5:70806958-70856378	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv882179	chr5:70807073-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
2	chr5:70820200-70857400	Weak transcription	Small Intestine	intestine
3	chr5:70825200-70859600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:70825800-70869200	Weak transcription	Fetal Heart	heart
5	chr5:70827600-70864400	Strong transcription	Liver	Liver
6	chr5:70831400-70864600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:70834000-70871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:70834200-70862800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:70835800-70850400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:70837800-70861800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:70838000-70859400	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr5:70838400-70850200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:70839400-70870000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:70840400-70849800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:70841400-70860800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:70843600-70849800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:70844800-70850000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:70845400-70849600	Weak transcription	NHLF	lung
19	chr5:70845600-70849400	Weak transcription	Fetal Kidney	kidney
20	chr5:70845600-70849400	Weak transcription	HSMM	muscle
21	chr5:70846000-70849400	Weak transcription	A549	lung
22	chr5:70846000-70849400	Weak transcription	Hela-S3	cervix
23	chr5:70846000-70853600	Weak transcription	Fetal Brain Male	brain
24	chr5:70846000-70863800	Weak transcription	Esophagus	oesophagus
25	chr5:70846000-70872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:70846200-70849400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:70846200-70849600	Weak transcription	Left Ventricle	heart
28	chr5:70846200-70852800	Weak transcription	Brain Substantia Nigra	brain
29	chr5:70846200-70853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:70846200-70856600	Weak transcription	Aorta	Aorta
31	chr5:70846200-70866200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:70846200-70867600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:70846400-70851800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:70846800-70849400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr5:70846800-70853800	Weak transcription	Brain Anterior Caudate	brain
36	chr5:70846800-70855800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:70846800-70857200	Weak transcription	Spleen	Spleen
38	chr5:70846800-70858200	Weak transcription	Right Ventricle	heart
39	chr5:70847000-70851200	Weak transcription	Thymus	Thymus
40	chr5:70847000-70852800	Weak transcription	Lung	lung
41	chr5:70847200-70864200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr5:70847400-70849400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:70847400-70849400	Weak transcription	HSMMtube	muscle
44	chr5:70847400-70852800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:70847400-70864600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:70847600-70851200	Weak transcription	Fetal Intestine Small	intestine
47	chr5:70847600-70852800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:70847600-70853000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:70847600-70853000	Weak transcription	Gastric	stomach
50	chr5:70847600-70854200	Weak transcription	Ovary	ovary

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