Variant report

Variant	rs10134056
Chromosome Location	chr14:81919396-81919397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:81919312-81920002	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr14:81919200-81920171	A549	lung:	n/a	chr14:81919711-81919720
3	CTCF	chr14:81918934-81920143	SK-N-SH	brain:	n/a	chr14:81919711-81919720
4	RAD21	chr14:81919308-81919937	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr14:81919324-81919973	MCF-7	breast:	n/a	n/a
6	RAD21	chr14:81919248-81920220	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr14:81919280-81919430	GM12867	blood:	n/a	n/a
8	SMC3	chr14:81919335-81919926	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr14:81919280-81919430	AG04450	lung:	n/a	n/a
10	SMC3	chr14:81919247-81920234	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr14:81919260-81919410	Hela-S3	cervix:	n/a	n/a
12	RAD21	chr14:81919382-81919997	HepG2	liver:	n/a	n/a
13	CTCF	chr14:81919373-81920020	MCF-7	breast:	n/a	chr14:81919711-81919720
14	CTCF	chr14:81919333-81920014	HCT-116	colon:	n/a	chr14:81919711-81919720
15	CTCF	chr14:81919260-81919410	HRPEpiC	eye:	n/a	n/a
16	RAD21	chr14:81919252-81920078	MCF-7	breast:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81718490..81719728-chr14:81919160..81920015,5	MCF-7	breast:
2	chr14:81865287..81867829-chr14:81917916..81919892,2	K562	blood:
3	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:
4	chr14:81901759..81903510-chr14:81917785..81919796,2	MCF-7	breast:
5	chr14:81791324..81793435-chr14:81918105..81920642,2	MCF-7	breast:
6	chr14:81733496..81737456-chr14:81918664..81922273,4	MCF-7	breast:
7	chr14:81735295..81736524-chr14:81919204..81921189,25	MCF-7	breast:
8	chr14:81732900..81735880-chr14:81918109..81921076,5	MCF-7	breast:
9	chr14:81684333..81688496-chr14:81916691..81923354,12	MCF-7	breast:
10	chr14:81735897..81736529-chr14:81919200..81920174,5	K562	blood:
11	chr14:81915638..81917709-chr14:81917915..81920043,2	MCF-7	breast:
12	chr14:81736225..81738545-chr14:81918216..81919957,2	MCF-7	breast:
13	chr14:81768674..81769277-chr14:81919339..81919953,2	MCF-7	breast:
14	chr14:81735549..81736364-chr14:81919231..81920117,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258675	TF binding region
ENSG00000258675	Chromatin interaction
ENSG00000165417	Chromatin interaction
ENSG00000140022	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12889439	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742550	0.82[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144547	0.85[JPT][hapmap]
rs8004137	0.86[JPT][hapmap]
rs8021819	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81916200-81921200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr14:81916600-81919400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:81916600-81925800	Weak transcription	Spleen	Spleen
4	chr14:81916800-81919400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:81916800-81919400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:81917000-81919400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:81917000-81919400	Weak transcription	Fetal Stomach	stomach
8	chr14:81917000-81921000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:81917000-81931000	Weak transcription	Placenta	Placenta
10	chr14:81917200-81919400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:81917200-81919400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:81917200-81919400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:81917600-81920400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:81918600-81919800	Enhancers	Fetal Muscle Leg	muscle
15	chr14:81919000-81919400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:81919000-81919400	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:81919000-81919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:81919000-81919600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:81919000-81919600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:81919000-81919600	Enhancers	Brain Substantia Nigra	brain
21	chr14:81919000-81919600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr14:81919000-81919600	Enhancers	HMEC	breast
23	chr14:81919000-81919600	Enhancers	HSMM	muscle
24	chr14:81919000-81919600	Enhancers	NHDF-Ad	bronchial
25	chr14:81919000-81919600	Flanking Active TSS	Osteobl	bone
26	chr14:81919000-81919800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:81919000-81919800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:81919000-81920000	Enhancers	K562	blood
29	chr14:81919000-81920600	Enhancers	Brain Germinal Matrix	brain
30	chr14:81919200-81919400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:81919200-81919400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:81919200-81919400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:81919200-81919400	Enhancers	Brain Hippocampus Middle	brain
34	chr14:81919200-81919400	Enhancers	Psoas Muscle	Psoas
35	chr14:81919200-81919400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr14:81919200-81919600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr14:81919200-81919600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:81919200-81919600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:81919200-81919600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:81919200-81919600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:81919200-81919600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:81919200-81919600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:81919200-81919600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:81919200-81919600	Enhancers	Liver	Liver
45	chr14:81919200-81919600	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr14:81919200-81919600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr14:81919200-81919600	Enhancers	Ovary	ovary
48	chr14:81919200-81919600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr14:81919200-81919600	Flanking Active TSS	HSMMtube	muscle
50	chr14:81919200-81919800	Enhancers	Dnd41	blood

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