Variant report

Variant	rs2482924
Chromosome Location	chr20:25317990-25317991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25316806..25320274-chr20:25323207..25325619,3	MCF-7	breast:
2	chr20:25316023..25323524-chr20:25367529..25373124,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100997	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2474771	1.00[AMR][1000 genomes]
rs2474778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2474779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2500398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2500415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2500421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2500422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2500426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2500427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs381497	1.00[AFR][1000 genomes]
rs407925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs496133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs574221	1.00[AFR][1000 genomes]
rs6037118	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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 target site	53 gene(s)	inside rSNPs	diseases
4	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv833948	chr20:25231726-25410540	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv482647	chr20:25308912-25481982	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv1056997	chr20:25316663-25492339	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25292000-25325200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr20:25292000-25327400	Weak transcription	Aorta	Aorta
3	chr20:25292400-25325200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr20:25292600-25351600	Weak transcription	NHDF-Ad	bronchial
5	chr20:25302800-25324400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:25304000-25324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr20:25304400-25319000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr20:25304400-25324200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:25304400-25327000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr20:25304800-25318000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr20:25304800-25322800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr20:25305000-25327000	Weak transcription	Primary T cells from cord blood	blood
13	chr20:25305000-25331800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr20:25305400-25319000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr20:25305400-25319800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr20:25305400-25320400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr20:25305400-25320800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr20:25305400-25321000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr20:25305400-25321000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr20:25305400-25335000	Weak transcription	Primary B cells from cord blood	blood
21	chr20:25306200-25335800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr20:25306400-25321600	Weak transcription	Right Atrium	heart
23	chr20:25307800-25318800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr20:25309400-25325600	Weak transcription	HSMM	muscle
25	chr20:25309600-25318600	Weak transcription	A549	lung
26	chr20:25309600-25321800	Weak transcription	Left Ventricle	heart
27	chr20:25309600-25333200	Weak transcription	NHLF	lung
28	chr20:25309800-25318200	Weak transcription	Right Ventricle	heart
29	chr20:25309800-25320200	Weak transcription	Colonic Mucosa	Colon
30	chr20:25309800-25320400	Weak transcription	Ovary	ovary
31	chr20:25309800-25323200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr20:25309800-25325000	Weak transcription	Brain Angular Gyrus	brain
33	chr20:25309800-25325400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr20:25310000-25322400	Weak transcription	Adipose Nuclei	Adipose
35	chr20:25310200-25318000	Weak transcription	Brain Substantia Nigra	brain
36	chr20:25310200-25318000	Weak transcription	Lung	lung
37	chr20:25310200-25320200	Weak transcription	Placenta	Placenta
38	chr20:25310200-25322000	Weak transcription	Brain Anterior Caudate	brain
39	chr20:25310200-25332000	Weak transcription	Colon Smooth Muscle	Colon
40	chr20:25310400-25318000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr20:25310400-25334400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr20:25310600-25318200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr20:25310600-25318400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr20:25310600-25320000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr20:25310600-25322200	Weak transcription	Brain Germinal Matrix	brain
46	chr20:25310600-25334200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr20:25310800-25320200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr20:25311000-25320200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr20:25311000-25320200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr20:25311400-25321800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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