Variant report

Variant	rs851169
Chromosome Location	chr1:223352998-223352999
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:223352662-223353054	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223351680..223354342-chr1:223666424..223669098,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226601	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1640801	0.92[AFR][1000 genomes]
rs1773751	0.88[AFR][1000 genomes]
rs1773752	0.88[AFR][1000 genomes]
rs1773764	0.88[AFR][1000 genomes]
rs2430412	1.00[AFR][1000 genomes]
rs851167	1.00[AFR][1000 genomes]
rs851172	1.00[AFR][1000 genomes]
rs851175	0.92[AFR][1000 genomes]
rs864833	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription 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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223347800-223357600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:223348800-223355400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:223349600-223355000	Enhancers	Adipose Nuclei	Adipose
4	chr1:223349600-223355000	Enhancers	Placenta	Placenta
5	chr1:223349800-223375400	Weak transcription	Right Atrium	heart
6	chr1:223350000-223355800	Enhancers	Fetal Thymus	thymus
7	chr1:223350200-223355400	Enhancers	Liver	Liver
8	chr1:223350600-223353000	Weak transcription	Brain Anterior Caudate	brain
9	chr1:223350800-223353400	Enhancers	Pancreas	Pancrea
10	chr1:223351800-223353400	Enhancers	Esophagus	oesophagus
11	chr1:223351800-223353400	Weak transcription	Stomach Mucosa	stomach
12	chr1:223351800-223354000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:223352000-223353000	Weak transcription	Primary B cells from cord blood	blood
14	chr1:223352000-223353400	Weak transcription	Lung	lung
15	chr1:223352000-223354200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:223352000-223354200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:223352200-223353400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:223352200-223353800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:223352400-223353000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:223352400-223353000	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:223352400-223353200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr1:223352600-223353200	Weak transcription	Brain Substantia Nigra	brain
23	chr1:223352600-223353600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:223352800-223358600	Enhancers	Primary T cells from cord blood	blood

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