Variant report

Variant	rs1394626
Chromosome Location	chr5:118602909-118602910
allele	A/C
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	RFX5	chr5:118602622-118606174	SK-N-SH	brain:	n/a	chr5:118603838-118603847 chr5:118605625-118605634
2	POLR2A	chr5:118602843-118602990	MCF10A-Er-Src	breast:	n/a	n/a
3	RFX5	chr5:118602261-118605425	IMR90	lung:	n/a	chr5:118603838-118603847
4	POLR2A	chr5:118602807-118602915	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:118586532..118588054-chr5:118602135..118604215,2	K562	blood:
2	chr5:118323865..118326797-chr5:118601908..118603876,2	K562	blood:
3	chr5:118597056..118599082-chr5:118600428..118603358,2	K562	blood:

Variant related genes	Relation type
TNFAIP8	TF binding region
ENSG00000169570	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1876735	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118592200-118603600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:118598800-118603200	Enhancers	Dnd41	blood
3	chr5:118599400-118603400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:118600000-118603000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:118600000-118603200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:118600400-118603200	Weak transcription	Primary T cells from cord blood	blood
7	chr5:118600600-118603400	Weak transcription	HSMMtube	muscle
8	chr5:118600800-118603600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:118601000-118604000	Weak transcription	Fetal Heart	heart
10	chr5:118601200-118603200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr5:118601400-118603600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr5:118601800-118603200	Enhancers	K562	blood
13	chr5:118601800-118603800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:118602000-118603200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:118602200-118603400	Weak transcription	Fetal Thymus	thymus
16	chr5:118602400-118603200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:118602600-118603000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:118602600-118603400	Enhancers	Thymus	Thymus
19	chr5:118602800-118603000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:118602800-118603400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:118602800-118603600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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