Variant report

Variant	rs972312
Chromosome Location	chr4:126274225-126274226
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12511204	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1355161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1396686	1.00[CEU][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533037	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17009511	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009520	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009526	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17009535	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710544	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2710545	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2710557	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710562	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710563	0.90[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710591	1.00[CEU][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2940780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56995730	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57565770	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57945315	0.86[EUR][1000 genomes]
rs58972262	1.00[EUR][1000 genomes]
rs6830885	1.00[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6840704	1.00[EUR][1000 genomes]
rs885271	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs970289	0.87[AMR][1000 genomes];1.00[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126242800-126279600	Weak transcription	Left Ventricle	heart
2	chr4:126265200-126281200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:126266400-126279200	Weak transcription	Fetal Lung	lung
4	chr4:126268200-126275800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:126268200-126278600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:126268200-126279400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:126271800-126276600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:126271800-126277200	Weak transcription	Brain Angular Gyrus	brain
9	chr4:126272800-126278800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:126272800-126280800	Weak transcription	NHDF-Ad	bronchial
11	chr4:126273600-126274600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:126273800-126274400	Enhancers	Colon Smooth Muscle	Colon
13	chr4:126273800-126274600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:126273800-126274800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:126274000-126275600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:126274000-126281000	Weak transcription	Aorta	Aorta
17	chr4:126274000-126288800	Weak transcription	Fetal Stomach	stomach
18	chr4:126274000-126289000	Weak transcription	Fetal Brain Male	brain
19	chr4:126274200-126275600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:126274200-126275600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:126274200-126275600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:126274200-126275600	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:126274200-126275600	Weak transcription	Brain Substantia Nigra	brain
24	chr4:126274200-126275800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:126274200-126277000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:126274200-126277200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:126274200-126277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:126274200-126281000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:126274200-126289400	Weak transcription	Brain Inferior Temporal Lobe	brain

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