Variant report

Variant	rs7912678
Chromosome Location	chr10:54637190-54637191
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:54635845..54638328-chr10:54638583..54641520,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10762897	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10762899	0.85[ASN][1000 genomes]
rs10824825	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10824826	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10824827	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11003226	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11003231	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11003233	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11003237	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11003238	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11003239	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1343043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35027420	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4147265	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4385797	0.89[EUR][1000 genomes]
rs4935371	0.81[ASN][1000 genomes]
rs4935372	0.82[ASN][1000 genomes]
rs6480977	0.83[ASN][1000 genomes]
rs7912660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7920023	0.84[EUR][1000 genomes]
rs9787622	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][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	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv831876	chr10:54492511-54649392	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv895404	chr10:54545590-54850707	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831877	chr10:54565135-54764638	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv467200	chr10:54585401-54726056	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv550905	chr10:54585401-54726056	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1041940	chr10:54621342-54737528	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54629400-54638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:54629600-54637400	Enhancers	Fetal Intestine Small	intestine
3	chr10:54633800-54637600	Enhancers	Fetal Intestine Large	intestine
4	chr10:54634000-54639000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:54634000-54643600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr10:54634600-54638800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:54634600-54639400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:54634800-54637200	Weak transcription	NHEK	skin
9	chr10:54634800-54639000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:54635000-54637200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:54635800-54639800	Weak transcription	Right Ventricle	heart
12	chr10:54635800-54643200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr10:54636000-54637800	Enhancers	Fetal Stomach	stomach
14	chr10:54636400-54638400	Weak transcription	Left Ventricle	heart
15	chr10:54636400-54639400	Weak transcription	Fetal Brain Female	brain
16	chr10:54636600-54637800	Enhancers	HMEC	breast
17	chr10:54636800-54640200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:54637000-54638800	Enhancers	Fetal Heart	heart

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