Variant report

Variant	rs45592432
Chromosome Location	chr14:24526466-24526467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:24526360-24526510	GM12864	blood:	n/a	n/a
2	CTCF	chr14:24526440-24526590	HBMEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24526433..24530334-chr14:24563337..24565125,5	K562	blood:
2	chr14:24524745..24526605-chr14:24550189..24551764,2	K562	blood:
3	chr14:24523011..24525249-chr14:24526454..24529124,3	K562	blood:
4	chr14:24525339..24528108-chr14:24566974..24569248,2	MCF-7	breast:
5	chr14:24524905..24527196-chr14:24550609..24553434,2	MCF-7	breast:
6	chr14:24526357..24527984-chr14:24640632..24642546,2	MCF-7	breast:

No data

Variant related genes	Relation type
LRRC16B	TF binding region
ENSG00000100918	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000129535	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1043650	1.00[AFR][1000 genomes]
rs2984716	1.00[AFR][1000 genomes]
rs55643821	1.00[AFR][1000 genomes]
rs55664822	1.00[AFR][1000 genomes]
rs55696718	1.00[AFR][1000 genomes]
rs55777341	1.00[AFR][1000 genomes]
rs55895464	1.00[AFR][1000 genomes]
rs55933233	1.00[AFR][1000 genomes]
rs55986585	1.00[AFR][1000 genomes]
rs56013927	1.00[AFR][1000 genomes]
rs56021847	1.00[AFR][1000 genomes]
rs56079821	1.00[AFR][1000 genomes]
rs56145320	1.00[AFR][1000 genomes]
rs56166780	1.00[AFR][1000 genomes]
rs56171184	1.00[AFR][1000 genomes]
rs56239015	1.00[AFR][1000 genomes]
rs61999785	1.00[AFR][1000 genomes]
rs61999794	1.00[AFR][1000 genomes]
rs61999796	1.00[AFR][1000 genomes]
rs61999797	1.00[AFR][1000 genomes]
rs61999798	1.00[AFR][1000 genomes]
rs61999799	1.00[AFR][1000 genomes]
rs61999801	1.00[AFR][1000 genomes]
rs61999802	1.00[AFR][1000 genomes]
rs61999849	1.00[AFR][1000 genomes]
rs61999850	1.00[AFR][1000 genomes]
rs61999852	1.00[AFR][1000 genomes]
rs61999855	1.00[AFR][1000 genomes]
rs61999856	1.00[AFR][1000 genomes]
rs62000761	1.00[AFR][1000 genomes]
rs62000792	1.00[AFR][1000 genomes]
rs62000814	1.00[AFR][1000 genomes]
rs62000817	1.00[AFR][1000 genomes]
rs62000818	1.00[AFR][1000 genomes]
rs7158037	1.00[AFR][1000 genomes]
rs72692113	1.00[AFR][1000 genomes]
rs72692114	1.00[AFR][1000 genomes]
rs72692115	1.00[AFR][1000 genomes]
rs72692116	1.00[AFR][1000 genomes]
rs72692118	1.00[AFR][1000 genomes]
rs72692119	1.00[AFR][1000 genomes]
rs72692120	1.00[AFR][1000 genomes]
rs72692121	1.00[AFR][1000 genomes]
rs72692132	1.00[AFR][1000 genomes]
rs72692141	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1052180	chr14:24429298-24555710	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv516023	chr14:24489605-24550224	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1036658	chr14:24513905-24555710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24522200-24527400	Weak transcription	Gastric	stomach
2	chr14:24522200-24527800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:24522200-24528000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:24522200-24529000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:24522200-24529200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:24522200-24539400	Weak transcription	Right Atrium	heart
7	chr14:24522200-24541000	Weak transcription	Spleen	Spleen
8	chr14:24522200-24547200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:24522200-24549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:24522400-24527000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:24522400-24527600	Weak transcription	Brain Anterior Caudate	brain
12	chr14:24522400-24534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:24522400-24540000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:24523000-24529000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:24523000-24539600	Weak transcription	Brain Angular Gyrus	brain
16	chr14:24523000-24540800	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:24523200-24527800	Weak transcription	Fetal Intestine Small	intestine
18	chr14:24523200-24534200	Strong transcription	Brain Germinal Matrix	brain
19	chr14:24523200-24536200	Weak transcription	Brain Substantia Nigra	brain
20	chr14:24523200-24537400	Strong transcription	Fetal Brain Female	brain
21	chr14:24523200-24541200	Weak transcription	Esophagus	oesophagus
22	chr14:24524600-24527400	Weak transcription	Fetal Brain Male	brain
23	chr14:24525000-24526800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:24525000-24540200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:24525200-24539600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:24525400-24529800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:24525800-24534600	Enhancers	Liver	Liver
28	chr14:24526200-24533600	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:24526400-24527000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:24526400-24527400	Bivalent Enhancer	HepG2	liver

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