Variant report

Variant	rs117569446
Chromosome Location	chr14:68171633-68171634
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:68171036-68171688	HepG2	liver:	n/a	n/a
2	RAD21	chr14:68171083-68171670	MCF-7	breast:	n/a	n/a
3	CTCF	chr14:68170919-68172143	A549	lung:	n/a	n/a
4	RAD21	chr14:68171160-68171642	HepG2	liver:	n/a	n/a
5	CUX1	chr14:68171280-68171706	K562	blood:	n/a	n/a
6	RAD21	chr14:68170981-68171775	HCT-116	colon:	n/a	n/a
7	SPI1	chr14:68170913-68171738	GM12878	blood:	n/a	chr14:68170963-68170976
8	CTCF	chr14:68171253-68171661	HCT-116	colon:	n/a	n/a
9	CTCF	chr14:68171107-68171662	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:68171004-68171761	HCT-116	colon:	n/a	n/a
11	RAD21	chr14:68171142-68171650	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr14:68171520-68171670	WI-38	lung:	n/a	n/a
13	RAD21	chr14:68171096-68171659	MCF-7	breast:	n/a	n/a
14	RAD21	chr14:68171063-68171666	A549	lung:	n/a	n/a
15	CTCF	chr14:68171031-68171804	SK-N-SH	brain:	n/a	n/a
16	RAD21	chr14:68170907-68171653	HCT-116	colon:	n/a	chr14:68170973-68170987
17	SMC3	chr14:68171074-68171970	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr14:68171580-68171730	AG04449	skin:	n/a	n/a
19	RAD21	chr14:68170819-68172079	SK-N-SH	brain:	n/a	chr14:68170973-68170987
20	RAD21	chr14:68171056-68171814	A549	lung:	n/a	n/a
21	ZMIZ1	chr14:68171282-68171648	K562	blood:	n/a	n/a
22	BHLHE40	chr14:68171303-68171647	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67993411..67993949-chr14:68170946..68171642,2	MCF-7	breast:
2	chr14:68139698..68142484-chr14:68169874..68172946,4	MCF-7	breast:
3	chr14:68050450..68051460-chr14:68170491..68171891,10	K562	blood:
4	chr14:68171220..68171774-chr14:68232579..68233209,2	MCF-7	breast:
5	chr14:68050285..68051265-chr14:68171010..68171830,2	MCF-7	breast:
6	chr14:68085038..68085996-chr14:68170872..68171824,5	K562	blood:
7	chr14:68085030..68085991-chr14:68170815..68171645,4	MCF-7	breast:
8	chr14:68065457..68068095-chr14:68169119..68171833,2	MCF-7	breast:
9	chr14:68161792..68164356-chr14:68169236..68171815,2	MCF-7	breast:
10	chr14:68049889..68051990-chr14:68169863..68172640,4	MCF-7	breast:
11	chr14:68083632..68084176-chr14:68170942..68171834,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL369P	TF binding region
ENSG00000100564	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000201529	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv976349	chr14:68171328-68181608	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr14:68170400-68172000	Enhancers	Liver	Liver
2	chr14:68171000-68171800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:68171000-68172000	Enhancers	Stomach Mucosa	stomach
4	chr14:68171000-68172400	Enhancers	A549	lung
5	chr14:68171200-68171800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:68171200-68171800	Enhancers	HepG2	liver
7	chr14:68171200-68171800	Enhancers	K562	blood
8	chr14:68171200-68172000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:68171200-68172000	Flanking Active TSS	Brain Substantia Nigra	brain
10	chr14:68171200-68172200	Enhancers	Brain Hippocampus Middle	brain
11	chr14:68171200-68172200	Enhancers	HMEC	breast
12	chr14:68171200-68172400	Enhancers	Brain Anterior Caudate	brain
13	chr14:68171200-68172400	Enhancers	Hela-S3	cervix
14	chr14:68171400-68171800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:68171400-68171800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:68171400-68172200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:68171400-68172200	Enhancers	NHEK	skin
18	chr14:68171600-68171800	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr14:68171600-68171800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:68171600-68171800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:68171600-68171800	Enhancers	Rectal Smooth Muscle	rectum
22	chr14:68171600-68172200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:68171600-68172200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:68171600-68172200	Enhancers	Brain Cingulate Gyrus	brain

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