Variant report

Variant	rs9972282
Chromosome Location	chr14:24522821-24522822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24519494..24523801-chr14:24562244..24565641,8	MCF-7	breast:
2	chr14:24519507..24523114-chr14:24581353..24584961,4	MCF-7	breast:
3	chr14:24519595..24523490-chr14:24615649..24620329,4	MCF-7	breast:
4	chr14:24521386..24523883-chr14:24578349..24580057,2	MCF-7	breast:
5	chr14:24519146..24523502-chr14:24549476..24554002,6	MCF-7	breast:
6	chr14:24522487..24524225-chr14:24539392..24540998,2	K562	blood:
7	chr14:24521298..24523574-chr14:24582110..24584268,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100897	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000100884	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000129535	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11158525	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11626841	0.88[EUR][1000 genomes]
rs2877590	0.86[EUR][1000 genomes]
rs62000819	0.88[EUR][1000 genomes]
rs6573541	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148185	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152726	0.88[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	nsv564047	chr14:24428509-24525634	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv983808	chr14:24503854-24523979	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	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
9	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24521400-24523000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:24521800-24525800	Weak transcription	Liver	Liver
3	chr14:24522000-24523000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr14:24522000-24523200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:24522000-24523200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:24522000-24523600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:24522200-24523000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:24522200-24523000	Enhancers	Brain Angular Gyrus	brain
9	chr14:24522200-24523000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr14:24522200-24523200	Enhancers	Esophagus	oesophagus
11	chr14:24522200-24523600	Enhancers	Fetal Brain Male	brain
12	chr14:24522200-24524000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:24522200-24526200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:24522200-24527400	Weak transcription	Gastric	stomach
15	chr14:24522200-24527800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:24522200-24528000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:24522200-24529000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:24522200-24529200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:24522200-24539400	Weak transcription	Right Atrium	heart
20	chr14:24522200-24541000	Weak transcription	Spleen	Spleen
21	chr14:24522200-24547200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:24522200-24549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:24522400-24523000	Enhancers	Brain Hippocampus Middle	brain
24	chr14:24522400-24523000	Enhancers	Hela-S3	cervix
25	chr14:24522400-24523000	Bivalent Enhancer	HepG2	liver
26	chr14:24522400-24523400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:24522400-24524000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:24522400-24527000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:24522400-24527600	Weak transcription	Brain Anterior Caudate	brain
30	chr14:24522400-24534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:24522400-24540000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:24522600-24523000	Enhancers	Brain Cingulate Gyrus	brain
33	chr14:24522600-24523000	Weak transcription	Brain Substantia Nigra	brain
34	chr14:24522600-24523200	Weak transcription	Brain Germinal Matrix	brain
35	chr14:24522600-24524800	Weak transcription	Dnd41	blood
36	chr14:24522800-24523000	Weak transcription	Fetal Brain Female	brain

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