Variant report

Variant	rs986383
Chromosome Location	chr14:68327447-68327448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:68327396-68327655	K562	blood:	n/a	chr14:68327514-68327525
2	CEBPB	chr14:68327398-68327642	IMR90	lung:	n/a	chr14:68327514-68327525
3	CEBPB	chr14:68327393-68327666	HepG2	liver:	n/a	chr14:68327514-68327525
4	STAT3	chr14:68327082-68327564	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68315532..68317270-chr14:68325905..68327762,2	MCF-7	breast:
2	chr14:68326971..68328542-chr14:68331240..68333251,2	K562	blood:
3	chr14:68296992..68299258-chr14:68326743..68328477,2	MCF-7	breast:
4	chr14:68327398..68330046-chr14:68977112..68979163,2	MCF-7	breast:
5	chr14:68327408..68329079-chr14:68398161..68400444,2	MCF-7	breast:
6	chr14:68317031..68319960-chr14:68326091..68328593,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFYVE26-3	chr14:68327156-68327656	expReg_chr14_4439_-

No data

Variant related genes	Relation type
RAD51B	TF binding region
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1033686	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1950764	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34050208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34274745	1.00[ASN][1000 genomes]
rs72725119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725138	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68300600-68336200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:68303200-68331800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:68313200-68333400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:68313200-68333800	Weak transcription	Primary T cells from cord blood	blood
5	chr14:68314000-68331400	Weak transcription	Dnd41	blood
6	chr14:68318600-68334400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:68319000-68327600	Weak transcription	Ovary	ovary
8	chr14:68319200-68334200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:68320800-68338600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:68321000-68334000	Weak transcription	Primary B cells from cord blood	blood
11	chr14:68321200-68334400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:68321400-68334200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:68322400-68332600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:68322600-68334800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:68324000-68335600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:68324600-68332400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:68324600-68333800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:68324600-68354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:68325000-68334400	Weak transcription	Fetal Intestine Small	intestine
20	chr14:68325200-68331800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:68325600-68334800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:68326000-68334000	Weak transcription	Stomach Mucosa	stomach
23	chr14:68326400-68333800	Weak transcription	GM12878-XiMat	blood

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