Variant report

Variant	rs7308434
Chromosome Location	chr12:105178672-105178673
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11112193	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112194	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112195	1.00[EUR][1000 genomes]
rs11112196	1.00[EUR][1000 genomes]
rs11112203	1.00[EUR][1000 genomes]
rs12300375	1.00[EUR][1000 genomes]
rs12309588	0.86[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs3816923	0.86[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs57066817	1.00[EUR][1000 genomes]
rs58206824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61046283	1.00[EUR][1000 genomes]
rs7307668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7960343	1.00[EUR][1000 genomes]
rs7970504	0.86[CHB][hapmap]
rs7971575	0.86[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs7974895	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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105174600-105182600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:105178000-105186400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:105178200-105178800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:105178200-105179000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:105178200-105179000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:105178200-105179200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:105178400-105178800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:105178400-105178800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:105178400-105178800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:105178400-105178800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:105178400-105178800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:105178400-105178800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:105178400-105178800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:105178400-105178800	Enhancers	Fetal Muscle Leg	muscle
15	chr12:105178400-105179000	Enhancers	Fetal Heart	heart
16	chr12:105178400-105179000	Enhancers	Fetal Stomach	stomach
17	chr12:105178400-105179200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:105178400-105179600	Enhancers	Ovary	ovary
19	chr12:105178600-105178800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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