Variant report

Variant	rs73800408
Chromosome Location	chr4:8178734-8178735
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8177238..8179444-chr4:8182727..8185122,2	MCF-7	breast:
2	chr4:8178131..8179114-chr4:8239846..8240964,9	MCF-7	breast:
3	chr4:8178683..8179355-chr4:8239861..8240827,2	K562	blood:
4	chr4:8178210..8179173-chr4:8194105..8195549,8	MCF-7	breast:
5	chr4:8178298..8179365-chr4:8239616..8240695,4	MCF-7	breast:
6	chr4:8177372..8179736-chr4:8243215..8245049,2	K562	blood:
7	chr4:8158932..8160891-chr4:8178387..8181198,2	MCF-7	breast:
8	chr4:8178126..8179213-chr4:8194505..8195435,5	MCF-7	breast:
9	chr4:8178239..8179222-chr4:8243368..8244103,2	K562	blood:
10	chr4:8177109..8178826-chr4:8183314..8185485,2	MCF-7	breast:
11	chr4:8178129..8181116-chr4:8187357..8190314,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000125089	Chromatin interaction
ENSG00000163995	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11547949	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11937992	0.83[EUR][1000 genomes]
rs28370452	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28396639	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28398157	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28407374	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28417837	0.92[EUR][1000 genomes]
rs28480201	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28572135	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28580669	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28650262	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28716092	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56963754	0.91[AMR][1000 genomes]
rs59775110	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59829176	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7697501	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8170600-8183200	Weak transcription	Right Atrium	heart
2	chr4:8172400-8181600	Weak transcription	Esophagus	oesophagus
3	chr4:8174400-8178800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:8175800-8178800	Weak transcription	Hela-S3	cervix
5	chr4:8176000-8190200	Weak transcription	Psoas Muscle	Psoas
6	chr4:8177400-8181000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:8178200-8179000	Enhancers	Right Ventricle	heart
8	chr4:8178400-8178800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr4:8178400-8179000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:8178400-8179000	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:8178400-8179000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr4:8178400-8179200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:8178400-8179200	Enhancers	Brain Anterior Caudate	brain
14	chr4:8178400-8179200	Enhancers	Fetal Heart	heart
15	chr4:8178400-8179200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:8178400-8179200	Enhancers	Thymus	Thymus
17	chr4:8178400-8179200	Enhancers	Spleen	Spleen
18	chr4:8178400-8179800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:8178400-8179800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:8178400-8179800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:8178400-8179800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr4:8178400-8179800	Enhancers	Fetal Muscle Leg	muscle
23	chr4:8178400-8179800	Enhancers	Fetal Thymus	thymus
24	chr4:8178400-8179800	Enhancers	Dnd41	blood
25	chr4:8178400-8180000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:8178600-8178800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:8178600-8178800	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr4:8178600-8179000	Enhancers	Fetal Stomach	stomach
29	chr4:8178600-8185000	Weak transcription	H1 Cell Line	embryonic stem cell

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