Variant report

Variant	rs6997978
Chromosome Location	chr8:99414902-99414903
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99399092..99403051-chr8:99412315..99417483,4	K562	blood:
2	chr8:99412404..99414960-chr8:99423974..99426874,2	MCF-7	breast:
3	chr8:99410069..99412825-chr8:99413112..99416320,3	MCF-7	breast:
4	chr8:99407529..99410363-chr8:99413128..99417283,3	MCF-7	breast:
5	chr8:99404529..99406381-chr8:99414494..99416109,2	K562	blood:
6	chr8:99413566..99415958-chr8:99440640..99443091,2	MCF-7	breast:
7	chr8:99305293..99307105-chr8:99413175..99415820,2	MCF-7	breast:
8	chr8:99401527..99403051-chr8:99412315..99415290,2	K562	blood:
9	chr8:99411379..99414219-chr8:99414803..99416412,2	K562	blood:
10	chr8:99405535..99409022-chr8:99413535..99417090,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction
ENSG00000253468	Chromatin interaction
ENSG00000254267	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs35623626	0.82[AMR][1000 genomes]
rs4130405	0.84[AMR][1000 genomes]
rs4236852	0.90[LWK][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs4734404	0.83[AMR][1000 genomes]
rs4735558	0.84[AMR][1000 genomes]
rs4735559	0.84[AMR][1000 genomes]
rs4735561	0.84[AMR][1000 genomes]
rs4735562	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6468636	0.88[YRI][hapmap]
rs6468637	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6468638	0.92[AFR][1000 genomes]
rs6987962	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7826857	0.81[ASW][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7829417	0.92[AFR][1000 genomes]
rs7842141	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6997978	PLEKHF2	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99395400-99415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:99408600-99416600	Enhancers	Ovary	ovary
3	chr8:99409800-99415400	Enhancers	NHLF	lung
4	chr8:99410000-99415600	Enhancers	Fetal Stomach	stomach
5	chr8:99410000-99416000	Enhancers	Fetal Lung	lung
6	chr8:99410200-99415400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:99410400-99415000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:99410600-99415600	Enhancers	Fetal Muscle Leg	muscle
9	chr8:99410800-99421400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:99411600-99416200	Enhancers	Left Ventricle	heart
11	chr8:99411800-99415200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:99411800-99415200	Enhancers	Osteobl	bone
13	chr8:99411800-99415400	Enhancers	NHDF-Ad	bronchial
14	chr8:99412000-99416200	Enhancers	Right Atrium	heart
15	chr8:99412600-99415600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:99412600-99415800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:99412600-99415800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:99412600-99415800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:99412600-99415800	Enhancers	HSMM	muscle
20	chr8:99412600-99416000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:99412800-99415800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:99412800-99415800	Weak transcription	Lung	lung
23	chr8:99413200-99415400	Enhancers	HSMMtube	muscle
24	chr8:99413600-99415000	Weak transcription	Spleen	Spleen
25	chr8:99414200-99415400	Enhancers	Fetal Muscle Trunk	muscle
26	chr8:99414400-99415600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:99414400-99416000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:99414600-99415000	Enhancers	Esophagus	oesophagus
29	chr8:99414600-99415000	Bivalent Enhancer	Placenta	Placenta
30	chr8:99414600-99415400	Enhancers	HMEC	breast
31	chr8:99414600-99415600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:99414600-99415600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:99414600-99415600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:99414600-99416000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:99414600-99416000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:99414800-99415000	Enhancers	Adipose Nuclei	Adipose
37	chr8:99414800-99415000	Enhancers	Right Ventricle	heart
38	chr8:99414800-99415200	Enhancers	Fetal Heart	heart
39	chr8:99414800-99415400	Enhancers	NHEK	skin
40	chr8:99414800-99415800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:99414800-99416000	Enhancers	Stomach Smooth Muscle	stomach

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