Variant report

Variant	rs6594652
Chromosome Location	chr5:112247126-112247127
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112196178..112198372-chr5:112245314..112249155,3	K562	blood:
2	chr5:112044064..112046268-chr5:112246769..112248546,2	K562	blood:
3	chr5:112238334..112242783-chr5:112245993..112249269,4	K562	blood:
4	chr5:112246563..112249281-chr5:112250414..112253168,3	K562	blood:
5	chr5:112245836..112248204-chr5:112256620..112259021,3	K562	blood:

Variant related genes	Relation type
ENSG00000266499	Chromatin interaction
ENSG00000129625	Chromatin interaction
ENSG00000272869	Chromatin interaction
ENSG00000153037	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10058561	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10515449	0.90[JPT][hapmap]
rs10519333	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11555908	1.00[EUR][1000 genomes]
rs12189	0.82[CHB][hapmap]
rs13360640	1.00[EUR][1000 genomes]
rs17135066	1.00[EUR][1000 genomes]
rs17135070	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17135100	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17135108	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17135117	0.85[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17135149	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135193	0.82[CHB][hapmap]
rs2900065	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3733961	0.82[CHB][hapmap]
rs3733963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3822652	0.90[CHB][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3822654	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3892986	1.00[EUR][1000 genomes]
rs57726881	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57749964	1.00[EUR][1000 genomes]
rs58625991	1.00[EUR][1000 genomes]
rs58865195	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59349522	1.00[EUR][1000 genomes]
rs6864403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864647	0.82[CHB][hapmap]
rs728344	1.00[EUR][1000 genomes]
rs73227382	1.00[EUR][1000 genomes]
rs73227383	1.00[EUR][1000 genomes]
rs7701868	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7728109	0.92[CHB][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7728481	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7728766	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7730241	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7735121	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9687790	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:112223000-112256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
10	chr5:112224800-112250600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:112225000-112251600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:112229600-112250000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:112229600-112256600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:112230200-112251600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:112232600-112250200	Weak transcription	Stomach Mucosa	stomach
16	chr5:112234200-112249400	Weak transcription	Fetal Heart	heart
17	chr5:112237200-112249400	Weak transcription	K562	blood
18	chr5:112237400-112254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:112238200-112249600	Weak transcription	Brain Germinal Matrix	brain
20	chr5:112238200-112251600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:112238400-112251800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:112238400-112252800	Weak transcription	Small Intestine	intestine
23	chr5:112238400-112253800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:112238600-112248400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:112239000-112249200	Weak transcription	Hela-S3	cervix
26	chr5:112241200-112250400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:112241400-112249200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr5:112241800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:112241800-112248800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:112242200-112247200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:112242200-112254200	Weak transcription	Fetal Kidney	kidney
32	chr5:112242400-112250200	Strong transcription	HSMM	muscle
33	chr5:112242400-112252800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:112242600-112256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:112243000-112249600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:112243200-112247800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:112243200-112248800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:112243200-112249600	Weak transcription	Right Atrium	heart
39	chr5:112243200-112249800	Weak transcription	Spleen	Spleen
40	chr5:112243200-112251400	Weak transcription	Brain Angular Gyrus	brain
41	chr5:112243200-112254000	Weak transcription	Fetal Brain Male	brain
42	chr5:112243400-112248000	Strong transcription	Adipose Nuclei	Adipose
43	chr5:112243400-112249800	Weak transcription	Lung	lung
44	chr5:112243400-112250200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:112243400-112252800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:112244400-112249400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr5:112244600-112247200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:112244600-112247400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:112244600-112248400	Strong transcription	Dnd41	blood
50	chr5:112244600-112251600	Strong transcription	Primary B cells from peripheral blood	blood

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