Variant report

Variant	rs34178473
Chromosome Location	chr8:4848863-4848864
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	chr8:4841962..4844749-chr8:4848427..4850275,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10503297	0.82[AMR][1000 genomes]
rs13249975	0.84[EUR][1000 genomes]
rs13265122	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265437	0.84[EUR][1000 genomes]
rs13267577	0.84[EUR][1000 genomes]
rs13269289	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273361	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274516	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13275884	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17349258	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34415305	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34415424	1.00[ASN][1000 genomes]
rs35789176	0.84[AMR][1000 genomes]
rs4242497	0.82[AMR][1000 genomes]
rs67446253	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73179222	0.81[AMR][1000 genomes]
rs73179227	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4847200-4851400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:4848400-4849000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
3	chr8:4848400-4849200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:4848400-4849400	Active TSS	Brain Anterior Caudate	brain
5	chr8:4848400-4850200	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr8:4848600-4849000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:4848600-4849000	Bivalent Enhancer	Adipose Nuclei	Adipose
8	chr8:4848600-4849600	Bivalent Enhancer	Fetal Stomach	stomach
9	chr8:4848600-4851000	Active TSS	Brain Angular Gyrus	brain
10	chr8:4848600-4852600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr8:4848600-4852800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:4848600-4852800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr8:4848800-4849000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
14	chr8:4848800-4849000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr8:4848800-4849000	Active TSS	Brain Hippocampus Middle	brain
16	chr8:4848800-4849200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:4848800-4849200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr8:4848800-4849200	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr8:4848800-4849600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:4848800-4849800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:4848800-4849800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:4848800-4849800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:4848800-4850000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:4848800-4850200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
25	chr8:4848800-4850400	Bivalent Enhancer	Fetal Brain Male	brain
26	chr8:4848800-4850400	Bivalent Enhancer	Fetal Heart	heart
27	chr8:4848800-4850600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:4848800-4850600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:4848800-4850600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:4848800-4850600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:4848800-4850600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:4848800-4851200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr8:4848800-4852800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr8:4848800-4852800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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