Variant report

Variant	rs2710544
Chromosome Location	chr4:126272814-126272815
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:126271514..126273881-chr4:126274365..126276126,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1355161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396686	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1533037	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17009509	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009511	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17009520	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17009526	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17009535	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2710545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710557	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2710562	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2710563	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2710591	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2940780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56995730	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57565770	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57945315	0.82[EUR][1000 genomes]
rs58972262	0.95[EUR][1000 genomes]
rs6830885	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6840704	0.95[EUR][1000 genomes]
rs885271	0.95[EUR][1000 genomes]
rs970289	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972312	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126242800-126279600	Weak transcription	Left Ventricle	heart
2	chr4:126254000-126274000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:126265200-126281200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:126266400-126279200	Weak transcription	Fetal Lung	lung
5	chr4:126268000-126273600	Weak transcription	Aorta	Aorta
6	chr4:126268200-126273600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:126268200-126273800	Weak transcription	Brain Anterior Caudate	brain
8	chr4:126268200-126273800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:126268200-126275800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:126268200-126278600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:126268200-126279400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:126271800-126273600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:126271800-126273600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:126271800-126273800	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:126271800-126276600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:126271800-126277200	Weak transcription	Brain Angular Gyrus	brain
17	chr4:126272000-126273200	Enhancers	Brain Hippocampus Middle	brain
18	chr4:126272000-126273600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:126272000-126273600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:126272000-126273600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:126272000-126273800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:126272000-126273800	Weak transcription	Brain Substantia Nigra	brain
23	chr4:126272200-126273600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:126272200-126273800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:126272800-126273800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:126272800-126278800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:126272800-126280800	Weak transcription	NHDF-Ad	bronchial

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