Variant report

Variant	rs13384795
Chromosome Location	chr2:47782937-47782938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11674800	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs17217905	1.00[EUR][1000 genomes]
rs17224451	1.00[EUR][1000 genomes]
rs6737783	1.00[MEX][hapmap]
rs72872828	1.00[EUR][1000 genomes]
rs72888285	1.00[EUR][1000 genomes]
rs73927790	1.00[EUR][1000 genomes]
rs73929210	1.00[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	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47762000-47784800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:47763800-47785400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:47771400-47785400	Weak transcription	Ovary	ovary
4	chr2:47779200-47783800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:47779200-47785400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:47779600-47784200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:47779600-47785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:47779600-47794200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:47779800-47784000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:47779800-47784000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:47779800-47784200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:47780000-47784800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:47780200-47784200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:47780200-47785400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:47781400-47784800	Weak transcription	Fetal Brain Male	brain
16	chr2:47781600-47783800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:47781800-47784000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:47782000-47783400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr2:47782200-47785400	Weak transcription	Brain Angular Gyrus	brain
20	chr2:47782200-47785800	Weak transcription	Fetal Thymus	thymus
21	chr2:47782600-47785600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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