Variant report

Variant	rs10143553
Chromosome Location	chr14:106004027-106004028
allele	C/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	CTCF	chr14:106004024-106004791	GM12891	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
2	CTCF	chr14:106003900-106004050	HAc	cerebellar:	n/a	n/a
3	CTCF	chr14:106003988-106004064	Lung_OC	lung:	n/a	n/a
4	CTCF	chr14:106003915-106005247	SK-N-SH	brain:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
5	ZEB1	chr14:106003855-106004583	GM12878	blood:	n/a	chr14:106004268-106004275 chr14:106004289-106004296 chr14:106003999-106004010 chr14:106004099-106004111
6	CTCF	chr14:106003967-106004789	A549	lung:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
7	CTCF	chr14:106003960-106004110	HepG2	liver:	n/a	n/a
8	CTCF	chr14:106004023-106004125	GM13977	blood:	n/a	n/a
9	CTCF	chr14:106003900-106004050	BE2_C	brain:	n/a	n/a
10	RAD21	chr14:106004012-106004685	SK-N-SH	brain:	n/a	chr14:106004513-106004527 chr14:106004245-106004255 chr14:106004374-106004393

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:106003924..106004853-chr14:106501128..106502045,2	K562	blood:

Variant related genes	Relation type
ATP5G1P1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10142224	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10152050	0.82[ASN][1000 genomes]
rs28529526	1.00[ASN][1000 genomes]
rs28662250	0.91[ASN][1000 genomes]
rs4074453	0.89[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs4075104	0.89[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs4075105	0.89[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs6576111	1.00[ASN][1000 genomes]
rs7160093	0.95[ASN][1000 genomes]
rs7160747	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs73373734	1.00[ASN][1000 genomes]
rs7493501	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 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	chr14:105995400-106004200	Weak transcription	Brain Substantia Nigra	brain
2	chr14:105996200-106004400	Weak transcription	Right Atrium	heart
3	chr14:105996600-106004400	Weak transcription	Liver	Liver
4	chr14:105997400-106004200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:105998200-106004400	Weak transcription	Brain Germinal Matrix	brain
6	chr14:105999600-106004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:106003200-106005400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:106003600-106004400	Bivalent Enhancer	Placenta	Placenta
9	chr14:106003600-106004800	Enhancers	Spleen	Spleen
10	chr14:106003800-106004200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:106003800-106004600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:106003800-106004800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
13	chr14:106004000-106004200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:106004000-106004400	Bivalent Enhancer	Thymus	Thymus
15	chr14:106004000-106004600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:106004000-106004600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:106004000-106004600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr14:106004000-106004600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr14:106004000-106004600	Enhancers	Pancreas	Pancrea
20	chr14:106004000-106004800	Enhancers	Primary B cells from peripheral blood	blood
21	chr14:106004000-106004800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr14:106004000-106004800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:106004000-106004800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:106004000-106004800	Enhancers	Fetal Brain Male	brain
25	chr14:106004000-106004800	Enhancers	Dnd41	blood

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