Variant report

Variant	rs12410588
Chromosome Location	chr1:45195638-45195639
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:45083155..45084917-chr1:45193474..45196151,2	MCF-7	breast:
2	chr1:11967939..11971240-chr1:45194928..45197844,3	K562	blood:
3	chr1:45194515..45198714-chr1:45239955..45244261,13	MCF-7	breast:
4	chr1:45075313..45077004-chr1:45193857..45196108,2	K562	blood:
5	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
6	chr1:45195497..45197976-chr1:46711781..46715025,4	K562	blood:
7	chr1:45195509..45198075-chr1:45804039..45807111,4	K562	blood:
8	chr1:45096334..45100885-chr1:45195106..45197628,6	K562	blood:
9	chr1:45187216..45187887-chr1:45195575..45196869,4	MCF-7	breast:
10	chr1:45194189..45198394-chr1:45270401..45277394,13	MCF-7	breast:
11	chr1:44435855..44437705-chr1:45194660..45196622,2	K562	blood:
12	chr1:45193444..45198675-chr1:45475617..45480324,16	K562	blood:
13	chr1:45194988..45198272-chr1:45451491..45453905,3	K562	blood:
14	chr1:45194867..45196903-chr17:61522851..61524901,2	MCF-7	breast:
15	chr1:45195613..45196492-chr14:75746852..75747712,2	Hela-S3	cervix:
16	chr1:45195378..45196913-chr9:74979048..74981622,2	MCF-7	breast:
17	chr1:45194156..45199355-chr1:45264282..45268731,9	MCF-7	breast:
18	chr1:45195514..45197967-chr1:78468300..78470449,2	K562	blood:
19	chr1:45138378..45140523-chr1:45195153..45198091,3	MCF-7	breast:
20	chr1:45194369..45197773-chr1:46046767..46051199,5	K562	blood:
21	chr1:45193443..45200768-chr1:45280884..45289784,25	MCF-7	breast:
22	chr1:45195613..45196155-chr3:160939012..160939758,2	Hela-S3	cervix:
23	chr1:45195127..45198642-chr1:45986086..45989017,4	K562	blood:
24	chr1:45194597..45197062-chr16:30076613..30078245,2	K562	blood:
25	chr1:45193557..45198509-chr1:45202622..45207012,16	MCF-7	breast:
26	chr1:45194641..45196649-chr1:45215211..45217632,2	MCF-7	breast:
27	chr1:45194277..45197109-chr1:45476180..45479040,2	MCF-7	breast:
28	chr1:45195060..45196673-chr1:210546169..210549063,2	K562	blood:
29	chr1:45193356..45196908-chr1:45277414..45280591,3	MCF-7	breast:
30	chr1:28973668..28976424-chr1:45195552..45197867,2	K562	blood:
31	chr1:45140169..45143277-chr1:45195258..45198293,3	MCF-7	breast:
32	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
33	chr1:45195288..45198728-chr1:46046767..46051124,6	K562	blood:
34	chr1:45195403..45198201-chr1:46153522..46155662,2	K562	blood:
35	chr1:45194787..45197009-chr1:45805611..45808226,3	K562	blood:
36	chr1:45193566..45196499-chr1:45246618..45248474,2	MCF-7	breast:
37	chr1:28973668..28976424-chr1:45194638..45197867,3	K562	blood:
38	chr1:45195257..45196854-chr1:45307118..45309179,2	K562	blood:
39	chr1:45195102..45197641-chr1:46767330..46769394,3	K562	blood:
40	chr1:45194886..45196578-chr1:45451007..45452655,2	K562	blood:
41	chr1:45195277..45197828-chr22:43009833..43012716,2	K562	blood:
42	chr1:45195042..45198446-chr1:46014587..46018125,4	K562	blood:
43	chr1:45194356..45196709-chr1:45671455..45674193,2	K562	blood:
44	chr1:45194728..45196776-chr17:41462268..41463859,2	K562	blood:
45	chr1:45194899..45196556-chr1:45240626..45242238,2	MCF-7	breast:
46	chr1:45194535..45197095-chr1:45307118..45309179,4	K562	blood:
47	chr1:45009438..45011500-chr1:45194713..45196372,2	K562	blood:
48	chr1:45194700..45197577-chr1:45423799..45426749,2	K562	blood:
49	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
50	chr1:45195621..45198121-chr12:53300687..53302530,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149925	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000173660	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000229815	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000085999	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000263381	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000100227	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000132128	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000120656	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000229388	Chromatin interaction
ENSG00000117411	Chromatin interaction
ENSG00000132768	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000107372	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000169251	Chromatin interaction
ENSG00000159596	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000008283	Chromatin interaction
ENSG00000132780	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10127448	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10465818	0.82[ASN][1000 genomes]
rs11211027	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211030	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211031	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11801067	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11808189	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11808852	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12136048	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16832228	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6658470	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6666987	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6671255	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6678729	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6685176	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6688710	0.84[ASN][1000 genomes]
rs7512710	0.82[ASN][1000 genomes]
rs7524446	0.83[EUR][1000 genomes]
rs7536146	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7550170	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7555065	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9988580	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
7	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
8	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45187800-45196200	Weak transcription	Right Atrium	heart
2	chr1:45188000-45195800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:45189400-45196200	Weak transcription	Brain Germinal Matrix	brain
4	chr1:45189400-45196200	Weak transcription	Colonic Mucosa	Colon
5	chr1:45189800-45205000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:45190200-45196000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:45190600-45196200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:45191000-45195800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:45191200-45196200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:45191400-45196600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:45192200-45196200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:45192600-45196000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:45192600-45196200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:45192800-45195800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:45192800-45195800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:45192800-45195800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:45192800-45195800	Weak transcription	Placenta	Placenta
18	chr1:45192800-45195800	Weak transcription	HepG2	liver
19	chr1:45192800-45195800	Weak transcription	NH-A	brain
20	chr1:45192800-45195800	Weak transcription	NHDF-Ad	bronchial
21	chr1:45192800-45196200	Weak transcription	NHLF	lung
22	chr1:45192800-45196800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:45192800-45197200	Weak transcription	HSMM	muscle
24	chr1:45192800-45197600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:45192800-45198200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:45192800-45198800	Weak transcription	HMEC	breast
27	chr1:45193200-45196400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:45193200-45197600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:45193400-45196200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:45193400-45196200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:45193400-45196400	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:45193400-45196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:45193400-45200400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:45193600-45195800	Weak transcription	Osteobl	bone
35	chr1:45193800-45196000	Weak transcription	Primary T cells from cord blood	blood
36	chr1:45194000-45195800	Weak transcription	Hela-S3	cervix
37	chr1:45194000-45196200	Enhancers	Fetal Thymus	thymus
38	chr1:45194400-45196600	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:45194600-45196200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr1:45194600-45196400	Enhancers	Primary B cells from cord blood	blood
41	chr1:45194800-45195800	Enhancers	K562	blood
42	chr1:45194800-45196000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr1:45194800-45196000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr1:45194800-45196200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:45194800-45196200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr1:45194800-45196200	Enhancers	Brain Anterior Caudate	brain
47	chr1:45194800-45196200	Enhancers	Duodenum Mucosa	Duodenum
48	chr1:45194800-45196400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr1:45194800-45196400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr1:45194800-45196400	Enhancers	Dnd41	blood

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