Variant report

Variant	rs12025267
Chromosome Location	chr1:225932686-225932687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225923900..225926631-chr1:225931129..225933291,2	K562	blood:

Variant related genes	Relation type
ENSG00000226349	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10915869	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10915871	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10915872	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10915874	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10915875	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12021669	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12021809	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12023140	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12023203	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12023665	0.93[CEU][hapmap]
rs12025075	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12025085	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12026657	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12029847	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12031637	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12032511	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12034342	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12038476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12039184	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12042000	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12042778	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12044217	0.95[ASN][1000 genomes]
rs12047520	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12048908	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12562612	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1849685	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1857008	0.93[CEU][hapmap]
rs2078389	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3738035	1.00[AFR][1000 genomes]
rs3753650	1.00[AFR][1000 genomes]
rs4557929	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61849043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61849046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61849047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61850655	0.80[AMR][1000 genomes]
rs61851667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6694856	0.84[CEU][hapmap]
rs716966	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225915200-225933600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:225921400-225934400	Weak transcription	Esophagus	oesophagus
3	chr1:225925200-225932800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:225925400-225933000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:225925400-225938200	Weak transcription	Spleen	Spleen
6	chr1:225925600-225933800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:225925800-225932800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:225925800-225932800	Weak transcription	Fetal Lung	lung
9	chr1:225925800-225933000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:225925800-225933000	Weak transcription	Right Atrium	heart
11	chr1:225925800-225934400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:225925800-225934400	Weak transcription	HMEC	breast
13	chr1:225925800-225938000	Weak transcription	Lung	lung
14	chr1:225928200-225934400	Weak transcription	NHDF-Ad	bronchial
15	chr1:225932200-225932800	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:225932400-225932800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:225932400-225934400	Enhancers	Colon Smooth Muscle	Colon
18	chr1:225932400-225934400	Enhancers	Fetal Muscle Leg	muscle
19	chr1:225932400-225934400	Enhancers	A549	lung
20	chr1:225932600-225932800	Enhancers	Left Ventricle	heart
21	chr1:225932600-225932800	Enhancers	Pancreas	Pancrea
22	chr1:225932600-225932800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:225932600-225932800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:225932600-225932800	Enhancers	Stomach Smooth Muscle	stomach
25	chr1:225932600-225932800	Enhancers	NHLF	lung
26	chr1:225932600-225933200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:225932600-225933800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:225932600-225933800	Enhancers	Right Ventricle	heart
29	chr1:225932600-225933800	Enhancers	HepG2	liver
30	chr1:225932600-225934400	Enhancers	Brain Germinal Matrix	brain
31	chr1:225932600-225934400	Enhancers	Rectal Smooth Muscle	rectum
32	chr1:225932600-225935800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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