Variant report

Variant	rs2583271
Chromosome Location	chr12:104440855-104440856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104440677..104443075-chr12:104444552..104446147,2	K562	blood:
2	chr12:104438711..104441073-chr12:104451682..104453689,2	K562	blood:
3	chr12:104440302..104444353-chr12:104456677..104458918,3	K562	blood:

Variant related genes	Relation type
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12369883	1.00[ASN][1000 genomes]
rs2254063	1.00[ASN][1000 genomes]
rs2583277	1.00[ASN][1000 genomes]
rs2629779	1.00[ASN][1000 genomes]
rs2629793	1.00[ASN][1000 genomes]
rs2629804	1.00[ASN][1000 genomes]
rs2700510	1.00[ASN][1000 genomes]
rs2700515	1.00[ASN][1000 genomes]
rs2722169	1.00[ASN][1000 genomes]
rs2722171	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723845	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723846	1.00[ASN][1000 genomes]
rs2723847	1.00[ASN][1000 genomes]
rs2723868	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104408800-104442200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104435000-104442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:104435800-104441600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:104437600-104442000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:104438400-104441800	Enhancers	Colon Smooth Muscle	Colon
6	chr12:104439200-104442000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:104439400-104441200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:104439400-104442000	Weak transcription	Adipose Nuclei	Adipose
9	chr12:104439400-104442200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:104439400-104442600	Weak transcription	Right Atrium	heart
11	chr12:104439400-104443400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:104439400-104443400	Weak transcription	Left Ventricle	heart
13	chr12:104439400-104443400	Weak transcription	Lung	lung
14	chr12:104439400-104443400	Weak transcription	Right Ventricle	heart
15	chr12:104439400-104443800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:104439600-104441800	Weak transcription	HMEC	breast
17	chr12:104439600-104442000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:104439600-104442200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:104439600-104442400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:104439600-104442400	Weak transcription	Fetal Stomach	stomach
21	chr12:104439600-104442400	Weak transcription	HSMM	muscle
22	chr12:104439600-104442400	Weak transcription	HSMMtube	muscle
23	chr12:104439600-104443400	Weak transcription	Psoas Muscle	Psoas
24	chr12:104440000-104442400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:104440000-104443400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:104440200-104441000	Enhancers	Aorta	Aorta
27	chr12:104440200-104441600	Enhancers	Ovary	ovary
28	chr12:104440200-104443000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:104440200-104443200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:104440400-104441400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:104440400-104441800	Weak transcription	Fetal Lung	lung
32	chr12:104440600-104441600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:104440800-104441800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:104440800-104441800	Enhancers	Fetal Muscle Leg	muscle
35	chr12:104440800-104442200	Weak transcription	A549	lung

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