Variant report

Variant	rs13117794
Chromosome Location	chr4:105980927-105980928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:105977547..105979416-chr4:105980836..105982585,2	MCF-7	breast:
2	chr4:105817499..105822928-chr4:105976984..105982661,7	MCF-7	breast:
3	chr4:105980136..105985353-chr4:106046016..106051646,9	MCF-7	breast:
4	chr4:105976784..105986292-chr4:106044571..106052702,25	MCF-7	breast:
5	chr4:105975764..105988950-chr4:106062358..106070647,39	MCF-7	breast:
6	chr4:105890426..105894175-chr4:105979884..105983538,4	MCF-7	breast:
7	chr4:105896599..105898132-chr4:105980700..105982640,2	MCF-7	breast:
8	chr4:105885086..105887081-chr4:105979526..105982369,3	MCF-7	breast:
9	chr4:105976101..105984516-chr4:106064112..106070622,19	MCF-7	breast:
10	chr4:105829249..105833469-chr4:105980777..105984054,6	MCF-7	breast:
11	chr4:105887583..105897108-chr4:105977318..105984912,20	MCF-7	breast:
12	chr4:105979608..105981354-chr4:106032416..106034539,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248373	Chromatin interaction
ENSG00000251906	Chromatin interaction
ENSG00000168769	Chromatin interaction
ENSG00000248242	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12500583	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12511146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1490589	0.83[AFR][1000 genomes]
rs1907144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195142	1.00[ASN][1000 genomes]
rs195144	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195145	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195146	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195147	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195148	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195150	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2130691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2866765	0.86[EUR][1000 genomes]
rs7670900	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7699148	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830024	chr4:105884350-106037816	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:105976600-105982400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr4:105978200-105981200	Flanking Active TSS	GM12878-XiMat	blood
3	chr4:105978200-105982000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:105978400-105981400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr4:105978600-105982400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:105978600-105982400	Enhancers	HMEC	breast
7	chr4:105978600-105983400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:105978600-105983400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:105978600-105983400	Enhancers	NHEK	skin
10	chr4:105978800-105983000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:105979000-105983400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:105979200-105981800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:105979200-105982200	Enhancers	Primary B cells from cord blood	blood
14	chr4:105979200-105982200	Enhancers	NH-A	brain
15	chr4:105979200-105982400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:105979400-105982000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:105979600-105981600	Weak transcription	HSMM	muscle
18	chr4:105979600-105981800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:105980000-105981800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:105980000-105982000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr4:105980400-105982000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:105980400-105982200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:105980800-105981800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:105980800-105981800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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