Variant report

Variant	rs11168312
Chromosome Location	chr12:48329388-48329389
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48323727..48326429-chr12:48327724..48330731,3	K562	blood:
2	chr12:48298644..48301477-chr12:48327051..48330192,3	MCF-7	breast:
3	chr12:48327444..48330329-chr12:48343554..48345699,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11168301	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168322	0.96[AFR][1000 genomes]
rs11574003	1.00[AMR][1000 genomes]
rs11574038	1.00[MEX][hapmap]
rs12313409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314051	0.81[AFR][1000 genomes]
rs12318019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58051519	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59128492	0.80[AFR][1000 genomes]
rs59608701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60757377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295130	0.81[AFR][1000 genomes]
rs73295132	0.81[AFR][1000 genomes]
rs73295134	0.81[AFR][1000 genomes]
rs73295162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48328000-48329400	Enhancers	Fetal Muscle Trunk	muscle
2	chr12:48328000-48330000	Enhancers	Fetal Muscle Leg	muscle
3	chr12:48328400-48329600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:48328400-48329800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:48328400-48329800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:48328400-48329800	Enhancers	Placenta	Placenta
7	chr12:48328400-48329800	Enhancers	HSMM	muscle
8	chr12:48328400-48329800	Enhancers	NHDF-Ad	bronchial
9	chr12:48328400-48337800	Enhancers	Fetal Heart	heart
10	chr12:48328600-48329400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:48328600-48329400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:48328600-48329400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:48328600-48329400	Enhancers	Fetal Kidney	kidney
14	chr12:48328600-48329400	Enhancers	Left Ventricle	heart
15	chr12:48328600-48329400	Enhancers	Right Ventricle	heart
16	chr12:48328600-48329400	Enhancers	Small Intestine	intestine
17	chr12:48328600-48329600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:48328600-48329600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:48328600-48329600	Enhancers	Fetal Lung	lung
20	chr12:48328600-48329600	Enhancers	NHLF	lung
21	chr12:48328800-48329400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:48328800-48329400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:48328800-48329400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr12:48328800-48329400	Enhancers	Right Atrium	heart
25	chr12:48328800-48329600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:48328800-48329600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:48328800-48329600	Enhancers	HepG2	liver
28	chr12:48328800-48329800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:48328800-48329800	Enhancers	Fetal Stomach	stomach
30	chr12:48328800-48329800	Enhancers	Ovary	ovary
31	chr12:48328800-48330000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr12:48329000-48329400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:48329000-48329400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:48329000-48329400	Enhancers	Colon Smooth Muscle	Colon
35	chr12:48329000-48329800	Enhancers	Duodenum Mucosa	Duodenum
36	chr12:48329200-48329400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:48329200-48329400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr12:48329200-48329600	Flanking Active TSS	HSMMtube	muscle
39	chr12:48329200-48329600	Enhancers	Osteobl	bone

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