Variant report

Variant	rs12354318
Chromosome Location	chr1:209375826-209375827
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11119236	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11119243	1.00[AMR][1000 genomes]
rs11119246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11119249	1.00[AMR][1000 genomes]
rs11119250	1.00[AMR][1000 genomes]
rs12067172	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071550	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12072789	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073260	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076575	1.00[AMR][1000 genomes]
rs12077614	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12079171	1.00[AMR][1000 genomes]
rs12079883	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080089	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081438	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088612	1.00[AMR][1000 genomes]
rs12095589	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096528	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680924	0.82[YRI][hapmap]
rs9782963	1.00[AMR][1000 genomes]
rs9782983	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209370400-209380800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209373200-209380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:209373200-209381200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:209373400-209376200	Weak transcription	Fetal Brain Female	brain
5	chr1:209373600-209376200	Weak transcription	Fetal Brain Male	brain
6	chr1:209373600-209376600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:209373600-209376600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:209373600-209380400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:209373800-209376400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:209373800-209376600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:209373800-209376600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:209374000-209376400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:209374000-209376400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:209374200-209376400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:209375400-209376400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:209375400-209376400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:209375600-209376200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:209375600-209376600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:209375600-209377600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:209375800-209376200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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