Variant report

Variant	rs56131612
Chromosome Location	chr8:103602469-103602470
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103600722..103604474-chr8:103665946..103668547,4	K562	blood:
2	chr8:103370631..103372413-chr8:103602268..103605120,2	K562	blood:
3	chr8:103600383..103602340-chr8:103602430..103605144,3	K562	blood:
4	chr8:103248705..103250283-chr8:103601762..103604480,2	K562	blood:
5	chr8:103602251..103604724-chr8:103665946..103668457,4	K562	blood:
6	chr8:103594551..103603288-chr8:103816901..103824856,23	MCF-7	breast:
7	chr8:103602171..103604876-chr8:103822543..103824319,2	K562	blood:
8	chr8:103600383..103602250-chr8:103602430..103605105,2	K562	blood:
9	chr8:103599978..103602949-chr8:103693848..103696223,2	K562	blood:
10	chr8:103602402..103604318-chr8:103640333..103643151,2	K562	blood:
11	chr8:103600160..103603020-chr8:103819170..103821439,2	K562	blood:
12	chr8:103602047..103604905-chr8:103607309..103609943,2	K562	blood:
13	chr8:103601837..103604958-chr8:103822153..103824319,4	K562	blood:
14	chr8:103587589..103591283-chr8:103601784..103605142,3	MCF-7	breast:
15	chr8:103422259..103425163-chr8:103601854..103604896,4	K562	blood:
16	chr8:103600249..103606482-chr8:103817809..103824485,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12544257	1.00[ASN][1000 genomes]
rs12547834	1.00[ASN][1000 genomes]
rs55634079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55997601	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56280439	1.00[ASN][1000 genomes]
rs72683085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683095	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685135	1.00[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv3443513	chr8:103601176-103604074	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103596600-103612600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:103598200-103603000	Weak transcription	NH-A	brain
3	chr8:103598400-103603000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:103598400-103612400	Weak transcription	Fetal Intestine Small	intestine
5	chr8:103598600-103602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:103598600-103602800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:103598600-103604600	Weak transcription	Placenta	Placenta
8	chr8:103598800-103611800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:103599000-103602800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:103599000-103604600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:103601800-103604000	Enhancers	Fetal Lung	lung
12	chr8:103602000-103602600	Enhancers	Brain Anterior Caudate	brain
13	chr8:103602000-103603000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:103602000-103603200	Enhancers	Right Atrium	heart
15	chr8:103602200-103602600	Enhancers	Brain Angular Gyrus	brain
16	chr8:103602200-103602800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:103602200-103602800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:103602200-103602800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:103602200-103603200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:103602200-103603200	Enhancers	Left Ventricle	heart
21	chr8:103602200-103603200	Flanking Active TSS	K562	blood
22	chr8:103602200-103603400	Enhancers	Right Ventricle	heart
23	chr8:103602200-103603600	Enhancers	Fetal Heart	heart
24	chr8:103602400-103602800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:103602400-103602800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:103602400-103602800	Active TSS	Fetal Brain Male	brain
27	chr8:103602400-103603200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr8:103602400-103603200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:103602400-103603400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:103602400-103603800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:103602400-103605000	Enhancers	Hela-S3	cervix

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