Variant report

Variant	rs1839780
Chromosome Location	chr7:136913425-136913426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136911465..136914095-chr7:136917447..136919624,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10228861	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10488606	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10488607	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13221814	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13230452	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1593294	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17168990	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17169018	1.00[JPT][hapmap]
rs2017578	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34396191	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34624085	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35315976	0.84[EUR][1000 genomes]
rs35837497	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4338046	1.00[JPT][hapmap]
rs67323673	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67726386	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6956523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970141	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727184	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs727185	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831149	chr7:136831665-137006468	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv608464	chr7:136882925-136935459	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv608465	chr7:136888610-136935459	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 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	chr7:136901600-136922800	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:136902000-136933800	Weak transcription	Fetal Brain Female	brain
3	chr7:136902200-136915800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:136906600-136925200	Weak transcription	Fetal Stomach	stomach
5	chr7:136909200-136922600	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:136909600-136935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:136909800-136926200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:136909800-136943000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:136910200-136913800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:136911000-136922400	Weak transcription	Brain Substantia Nigra	brain
11	chr7:136911000-136927000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:136911200-136925800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:136911600-136936400	Weak transcription	Fetal Heart	heart
14	chr7:136911800-136920800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:136912400-136922800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:136912800-136913800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:136913400-136915000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:136913400-136937200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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