Variant report

Variant	rs34527953
Chromosome Location	chr19:36738907-36738908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12971293	0.86[EUR][1000 genomes]
rs12972727	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12979040	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12979571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12979812	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12981691	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12982577	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12985315	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12985455	0.86[EUR][1000 genomes]
rs16960884	0.88[EUR][1000 genomes]
rs16970932	0.88[EUR][1000 genomes]
rs34072267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34242075	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34409006	0.88[EUR][1000 genomes]
rs34423559	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34521310	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34579456	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35342321	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35394138	0.86[EUR][1000 genomes]
rs35747960	0.84[EUR][1000 genomes]
rs35813323	0.88[EUR][1000 genomes]
rs35927732	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35989746	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60565014	0.82[EUR][1000 genomes]
rs71354126	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71354130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258851	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8104927	0.80[EUR][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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv9715	chr19:36729688-36811749	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36730400-36748400	Weak transcription	HSMMtube	muscle
2	chr19:36736200-36746200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:36736600-36739200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:36737200-36739400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:36737400-36739600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr19:36737400-36747800	Weak transcription	Brain Anterior Caudate	brain
7	chr19:36737400-36747800	Weak transcription	Brain Substantia Nigra	brain
8	chr19:36737400-36748000	Weak transcription	Ovary	ovary
9	chr19:36737600-36745400	Weak transcription	Pancreas	Pancrea
10	chr19:36737600-36746000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:36737600-36746200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:36737600-36747800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:36737600-36747800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:36737600-36747800	Weak transcription	Brain Hippocampus Middle	brain
15	chr19:36738000-36739000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:36738000-36747800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:36738600-36739600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr19:36738600-36739800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr19:36738600-36739800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr19:36738800-36739200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:36738800-36739200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr19:36738800-36739400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:36738800-36739600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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