Variant report

Variant	rs2583230
Chromosome Location	chr12:104407441-104407442
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	chr12:104406254..104408786-chr12:104421759..104424099,2	K562	blood:

Variant related genes	Relation type
ENSG00000120820	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11553765	0.99[ASN][1000 genomes]
rs12581921	1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs1564892	0.91[CHD][hapmap];0.94[JPT][hapmap]
rs17035129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17035153	0.81[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs1872476	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583232	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2629751	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs2629798	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629799	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722170	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2722175	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2722210	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2723867	0.80[ASN][1000 genomes]
rs55871448	0.98[ASN][1000 genomes]
rs73390446	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104402200-104409600	Weak transcription	Fetal Intestine Large	intestine
2	chr12:104402600-104410200	Weak transcription	Lung	lung
3	chr12:104403000-104409000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:104404000-104410000	Strong transcription	Stomach Smooth Muscle	stomach
5	chr12:104405000-104407600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:104405200-104409000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:104405200-104409800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:104405200-104410200	Weak transcription	NHLF	lung
9	chr12:104405400-104407800	Weak transcription	Left Ventricle	heart
10	chr12:104405600-104409000	Weak transcription	Osteobl	bone
11	chr12:104405600-104414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:104405600-104414400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:104405600-104415800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:104405800-104409200	Weak transcription	Hela-S3	cervix
15	chr12:104405800-104409400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:104405800-104409800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:104406000-104409000	Strong transcription	Fetal Muscle Leg	muscle
18	chr12:104406200-104409200	Strong transcription	Aorta	Aorta
19	chr12:104406400-104408200	Weak transcription	Colonic Mucosa	Colon
20	chr12:104406400-104409200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:104406400-104409400	Strong transcription	Fetal Stomach	stomach
22	chr12:104406400-104409400	Strong transcription	Ovary	ovary
23	chr12:104406400-104410400	Weak transcription	NHDF-Ad	bronchial
24	chr12:104406600-104409400	Weak transcription	HSMMtube	muscle
25	chr12:104406800-104407600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:104406800-104417200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:104407000-104412600	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:104407200-104408800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:104407200-104410400	Weak transcription	HSMM	muscle
30	chr12:104407400-104407800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:104407400-104408800	Strong transcription	Fetal Lung	lung
32	chr12:104407400-104408800	Strong transcription	HMEC	breast
33	chr12:104407400-104410000	Strong transcription	Fetal Muscle Trunk	muscle

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