Variant report

Variant	rs13423235
Chromosome Location	chr2:39915797-39915798
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10170450	0.85[ASN][1000 genomes]
rs10193803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10196294	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10490330	0.85[ASN][1000 genomes]
rs10490331	0.85[ASN][1000 genomes]
rs13427938	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024139	0.85[ASN][1000 genomes]
rs2540243	1.00[JPT][hapmap]
rs2540245	1.00[JPT][hapmap]
rs2716698	1.00[JPT][hapmap]
rs6738748	1.00[JPT][hapmap]
rs73927031	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73927037	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39905400-39916600	Enhancers	Fetal Heart	heart
2	chr2:39907600-39922200	Weak transcription	HSMM	muscle
3	chr2:39911800-39915800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:39911800-39916200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:39913400-39917200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:39913800-39916600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:39914000-39916400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:39914000-39918800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:39914200-39917000	Weak transcription	Aorta	Aorta
10	chr2:39914200-39926800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:39914400-39916400	Weak transcription	Brain Anterior Caudate	brain
12	chr2:39914400-39923400	Weak transcription	Fetal Brain Male	brain
13	chr2:39915400-39915800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:39915400-39916400	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:39915600-39915800	Enhancers	Brain Germinal Matrix	brain
16	chr2:39915600-39915800	Enhancers	Left Ventricle	heart
17	chr2:39915600-39917200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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