Variant report

Variant	rs67323797
Chromosome Location	chr14:35213309-35213310
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	CEBPB	chr14:35213091-35213314	IMR90	lung:	n/a	chr14:35213219-35213230
2	NR3C1	chr14:35212944-35213345	A549	lung:	n/a	n/a
3	CEBPB	chr14:35213076-35213377	HepG2	liver:	n/a	chr14:35213219-35213230
4	CEBPB	chr14:35213102-35213384	K562	blood:	n/a	chr14:35213219-35213230

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35021191..35023610-chr14:35210750..35213558,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243824	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11625876	0.93[ASN][1000 genomes]
rs1200393	0.81[ASN][1000 genomes]
rs1200396	0.81[ASN][1000 genomes]
rs1200399	0.81[ASN][1000 genomes]
rs1200405	0.81[ASN][1000 genomes]
rs1200408	0.81[ASN][1000 genomes]
rs1953430	0.87[ASN][1000 genomes]
rs1959155	0.87[ASN][1000 genomes]
rs1959158	0.87[ASN][1000 genomes]
rs1959159	0.85[ASN][1000 genomes]
rs2275145	0.87[ASN][1000 genomes]
rs2275146	0.87[ASN][1000 genomes]
rs2749983	0.83[ASN][1000 genomes]
rs3783317	0.87[ASN][1000 genomes]
rs4982209	0.87[ASN][1000 genomes]
rs55805339	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55980174	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56742442	0.85[ASN][1000 genomes]
rs66682958	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7145412	0.87[ASN][1000 genomes]
rs7158753	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8004518	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS 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	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1040350	chr14:35196524-35245409	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1051540	chr14:35200858-35278635	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr14:35209800-35222600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:35210600-35213800	Enhancers	Liver	Liver
3	chr14:35210600-35226800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:35211200-35221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:35211800-35221000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:35211800-35227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:35212000-35221600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:35212000-35221600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:35212000-35221600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:35212000-35222000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:35212000-35222200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:35212000-35222600	Weak transcription	Primary T cells from cord blood	blood
13	chr14:35212000-35222600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:35212200-35221400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:35212200-35225800	Weak transcription	Lung	lung
16	chr14:35212400-35219400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:35212400-35219600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:35212400-35221400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:35212400-35221400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:35212400-35221600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:35212400-35222400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:35212600-35219400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr14:35212600-35221600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:35213200-35215600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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