Variant report

Variant	rs4596189
Chromosome Location	chr3:134318577-134318578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134314944..134317745-chr3:134318153..134321546,4	K562	blood:
2	chr3:134317769..134318676-chr3:134359954..134360736,2	MCF-7	breast:
3	chr3:134317378..134319785-chr3:134321623..134324001,2	K562	blood:

Variant related genes	Relation type
ENSG00000154928	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10804633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10935122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12632372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4396934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4440162	1.00[AMR][1000 genomes]
rs4560339	1.00[AMR][1000 genomes]
rs4955477	1.00[AMR][1000 genomes]
rs4955535	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4955549	1.00[AMR][1000 genomes]
rs6439485	1.00[AMR][1000 genomes]
rs6439486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6439490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6439505	1.00[AMR][1000 genomes]
rs6776208	1.00[AMR][1000 genomes]
rs6777283	1.00[AMR][1000 genomes]
rs6805568	1.00[AMR][1000 genomes]
rs6805896	1.00[AMR][1000 genomes]
rs6806608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7356009	1.00[AMR][1000 genomes]
rs7372999	1.00[AMR][1000 genomes]
rs7373651	1.00[AFR][1000 genomes]
rs7609638	1.00[AMR][1000 genomes]
rs7609727	1.00[AMR][1000 genomes]
rs7633582	1.00[AMR][1000 genomes]
rs9289473	1.00[AMR][1000 genomes]
rs9289477	1.00[AMR][1000 genomes]
rs9844020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9870217	1.00[AFR][1000 genomes];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	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1002382	chr3:134239191-134358001	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134311600-134320400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr3:134313400-134319400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:134313400-134321600	Weak transcription	Spleen	Spleen
4	chr3:134316600-134319400	Active TSS	Primary B cells from cord blood	blood
5	chr3:134316600-134322200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:134317200-134319200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:134317200-134319400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:134317200-134320000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:134317400-134319800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:134317400-134322000	Enhancers	Fetal Brain Male	brain
11	chr3:134317600-134319200	Weak transcription	HMEC	breast
12	chr3:134317600-134319400	Weak transcription	NHEK	skin
13	chr3:134317600-134319800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:134317800-134319400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:134317800-134319600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:134317800-134319800	Enhancers	Fetal Brain Female	brain
17	chr3:134317800-134320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:134318000-134319200	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:134318000-134319600	Weak transcription	Brain Anterior Caudate	brain
20	chr3:134318000-134322400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:134318200-134319600	Weak transcription	Brain Angular Gyrus	brain
22	chr3:134318200-134319600	Weak transcription	Brain Germinal Matrix	brain
23	chr3:134318200-134319600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:134318400-134319600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:134318400-134321600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:134318400-134322200	Weak transcription	Primary monocytes fromperipheralblood	blood

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