Variant report

Variant	rs12586228
Chromosome Location	chr14:55114571-55114572
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55032684..55035798-chr14:55114530..55116849,3	MCF-7	breast:
2	chr14:55101230..55103764-chr14:55113577..55116049,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11158019	0.92[EUR][1000 genomes]
rs12586705	0.94[EUR][1000 genomes]
rs12590927	0.88[EUR][1000 genomes]
rs12888372	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12890352	0.92[EUR][1000 genomes]
rs17728293	0.89[EUR][1000 genomes]
rs35399674	0.94[EUR][1000 genomes]
rs4898844	0.88[EUR][1000 genomes]
rs7158091	0.91[EUR][1000 genomes]
rs942607	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv974464	chr14:55092217-55152792	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55070400-55116200	Weak transcription	HMEC	breast
2	chr14:55103600-55116600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:55105200-55116000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:55105400-55116000	Weak transcription	NHEK	skin
5	chr14:55106400-55116000	Weak transcription	HSMM	muscle
6	chr14:55106400-55117800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:55107400-55117200	Weak transcription	Fetal Stomach	stomach
8	chr14:55107600-55117000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:55107600-55118000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:55107600-55121400	Weak transcription	Pancreas	Pancrea
11	chr14:55107800-55116600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:55109600-55121400	Weak transcription	Spleen	Spleen
13	chr14:55109800-55114600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:55109800-55115000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:55109800-55115400	Weak transcription	Brain Anterior Caudate	brain
16	chr14:55109800-55116600	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:55109800-55117200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:55109800-55119400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:55110200-55114600	Weak transcription	Brain Substantia Nigra	brain
20	chr14:55110200-55116200	Weak transcription	A549	lung
21	chr14:55110200-55117000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:55110400-55114600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:55110400-55116000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:55110400-55116200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:55110600-55114800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:55110800-55114800	Weak transcription	HSMMtube	muscle
27	chr14:55110800-55115800	Weak transcription	Osteobl	bone
28	chr14:55110800-55116000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:55110800-55119600	Weak transcription	Lung	lung
30	chr14:55111000-55114800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:55111000-55115600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:55111000-55116200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:55111000-55117000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:55111000-55117200	Enhancers	HepG2	liver
35	chr14:55111400-55114600	Weak transcription	Right Atrium	heart
36	chr14:55111400-55114800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:55111400-55116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:55111400-55116200	Weak transcription	NH-A	brain
39	chr14:55111400-55117000	Weak transcription	Placenta	Placenta
40	chr14:55111600-55114600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:55111600-55115200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:55112400-55116800	Enhancers	NHDF-Ad	bronchial
43	chr14:55112800-55117200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr14:55113000-55116200	Enhancers	Stomach Smooth Muscle	stomach
45	chr14:55113000-55116600	Enhancers	Right Ventricle	heart
46	chr14:55113200-55122000	Enhancers	Fetal Heart	heart
47	chr14:55113400-55114600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:55113400-55114600	Weak transcription	Adipose Nuclei	Adipose
49	chr14:55113400-55114600	Weak transcription	Fetal Muscle Leg	muscle
50	chr14:55113400-55114600	Weak transcription	Left Ventricle	heart

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