Variant report

Variant	rs1956545
Chromosome Location	chr14:64852905-64852906
allele	A/G
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	chr14:64852389-64853560	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:64852517-64853471	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64852241..64854032-chr14:64855685..64858299,2	K562	blood:
2	chr14:64849072..64851783-chr14:64852563..64854681,2	K562	blood:

Variant related genes	Relation type
MTHFD1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12100648	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2093209	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2983735	0.93[ASN][1000 genomes]
rs2983740	0.80[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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64816400-64853400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:64839200-64853800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:64843800-64853400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:64844200-64854000	Weak transcription	Ovary	ovary
5	chr14:64847000-64853000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:64849400-64854000	Weak transcription	Small Intestine	intestine
7	chr14:64851000-64853200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:64851400-64853800	Weak transcription	NHLF	lung
9	chr14:64852200-64854000	Enhancers	Fetal Heart	heart
10	chr14:64852400-64853200	Enhancers	Dnd41	blood
11	chr14:64852600-64853000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:64852600-64853000	Flanking Active TSS	K562	blood
13	chr14:64852600-64853200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:64852600-64853400	Flanking Active TSS	GM12878-XiMat	blood
15	chr14:64852600-64853800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr14:64852600-64857000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr14:64852800-64853200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:64852800-64853200	Enhancers	Brain Anterior Caudate	brain
19	chr14:64852800-64853200	Enhancers	Fetal Lung	lung
20	chr14:64852800-64853600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:64852800-64853800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr14:64852800-64853800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:64852800-64853800	Weak transcription	Hela-S3	cervix
24	chr14:64852800-64854000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:64852800-64856800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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