Variant report

Variant	rs9992298
Chromosome Location	chr4:128715609-128715610
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128708991..128711452-chr4:128712949..128715693,2	K562	blood:
2	chr4:128702686..128704491-chr4:128713459..128716230,3	MCF-7	breast:
3	chr4:128714333..128715858-chr4:128734487..128736194,2	K562	blood:

Variant related genes	Relation type
ENSG00000164070	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10009032	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs10011964	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10022669	1.00[AMR][1000 genomes]
rs10023183	1.00[AMR][1000 genomes]
rs10023194	1.00[AMR][1000 genomes]
rs10024724	1.00[AMR][1000 genomes]
rs10026828	1.00[AMR][1000 genomes]
rs10032340	1.00[AMR][1000 genomes]
rs10034548	1.00[AMR][1000 genomes]
rs10034679	1.00[AMR][1000 genomes]
rs11934062	0.83[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap]
rs13434829	1.00[AMR][1000 genomes]
rs17012567	0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17012568	0.83[ASW][hapmap];1.00[MEX][hapmap]
rs17012849	1.00[MEX][hapmap];0.93[YRI][hapmap]
rs1913465	1.00[AMR][1000 genomes]
rs28436595	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489758	0.91[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28655300	1.00[AMR][1000 genomes]
rs28742883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28765108	1.00[AMR][1000 genomes]
rs28786410	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28791046	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4324559	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4550948	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv879921	chr4:128554404-128766074	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	esv1793579	chr4:128577439-128871309	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv1792152	chr4:128585215-128752829	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv830057	chr4:128591288-128788777	Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv879926	chr4:128652227-128766074	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv879927	chr4:128668850-128766074	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128705000-128718200	Weak transcription	Fetal Heart	heart
2	chr4:128705400-128731600	Weak transcription	Pancreas	Pancrea
3	chr4:128706000-128743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:128706200-128759800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:128706400-128716400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:128706400-128716600	Weak transcription	Hela-S3	cervix
7	chr4:128706400-128726200	Weak transcription	HMEC	breast
8	chr4:128706400-128729800	Weak transcription	NHEK	skin
9	chr4:128706400-128741600	Weak transcription	K562	blood
10	chr4:128707000-128726800	Weak transcription	HepG2	liver
11	chr4:128707200-128716600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:128708000-128716400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:128708800-128718400	Weak transcription	Psoas Muscle	Psoas
14	chr4:128711800-128716800	Weak transcription	GM12878-XiMat	blood
15	chr4:128711800-128726400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:128712000-128764600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:128713400-128716600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr4:128714200-128719400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:128714200-128731600	Weak transcription	Aorta	Aorta
20	chr4:128714400-128760400	Weak transcription	HUVEC	blood vessel
21	chr4:128715000-128717000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:128715000-128717800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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