Variant report

Variant	rs12486921
Chromosome Location	chr3:155523850-155523851
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:155522507..155525053-chr3:155587874..155590161,2	MCF-7	breast:
2	chr3:155476567..155478417-chr3:155522248..155524245,2	MCF-7	breast:
3	chr3:155520264..155525290-chr3:155586627..155590296,8	K562	blood:
4	chr3:155522731..155527439-chr3:155568712..155573851,7	MCF-7	breast:
5	chr3:155523815..155524507-chr5:170814456..170815057,2	Hela-S3	cervix:
6	chr3:155520823..155524412-chr3:155585049..155590112,5	MCF-7	breast:
7	chr3:155521670..155525457-chr3:155569550..155572694,3	MCF-7	breast:
8	chr3:155522613..155525345-chr3:155572139..155575204,3	K562	blood:
9	chr3:155522875..155525089-chr3:155569917..155571770,3	K562	blood:
10	chr3:155522036..155526613-chr3:155586597..155592084,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241307	Chromatin interaction
ENSG00000181163	Chromatin interaction
ENSG00000169359	Chromatin interaction
ENSG00000163655	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs358713	0.86[EUR][1000 genomes]
rs358721	0.82[EUR][1000 genomes]
rs358724	0.84[EUR][1000 genomes]
rs358725	0.86[EUR][1000 genomes]
rs358732	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs358737	0.95[EUR][1000 genomes]
rs358742	0.89[EUR][1000 genomes]
rs358749	0.87[EUR][1000 genomes]
rs395667	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404570	0.99[ASN][1000 genomes]
rs427139	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492858	0.82[EUR][1000 genomes]
rs500347	0.84[EUR][1000 genomes]
rs62284741	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62284742	0.99[ASN][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	nsv877680	chr3:155438022-155723064	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1014031	chr3:155481097-155524777	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv999641	chr3:155481097-155534616	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv2753744	chr3:155487298-155707298	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155487600-155524200	Weak transcription	Fetal Heart	heart
2	chr3:155523000-155524200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:155523000-155524200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:155523000-155524200	Active TSS	Primary T cells from cord blood	blood
5	chr3:155523000-155524200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:155523000-155524200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr3:155523000-155524200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr3:155523000-155524400	Active TSS	Brain Anterior Caudate	brain
9	chr3:155523000-155524600	Active TSS	Brain Hippocampus Middle	brain
10	chr3:155523000-155524600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:155523000-155524600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr3:155523000-155524600	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr3:155523000-155524600	Active TSS	Osteobl	bone
14	chr3:155523200-155524000	Active TSS	Primary B cells from cord blood	blood
15	chr3:155523200-155524000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr3:155523200-155524200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:155523200-155524200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:155523200-155524200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr3:155523200-155524200	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr3:155523200-155524200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:155523200-155524200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:155523200-155524200	Active TSS	Rectal Smooth Muscle	rectum
23	chr3:155523200-155524200	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr3:155523200-155524200	Active TSS	Thymus	Thymus
25	chr3:155523200-155524200	Active TSS	Spleen	Spleen
26	chr3:155523200-155524200	Active TSS	GM12878-XiMat	blood
27	chr3:155523200-155524200	Active TSS	Hela-S3	cervix
28	chr3:155523200-155524200	Active TSS	NHLF	lung
29	chr3:155523200-155524400	Active TSS	H1 Cell Line	embryonic stem cell
30	chr3:155523200-155524400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr3:155523200-155524400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr3:155523200-155524400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr3:155523200-155524400	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr3:155523200-155524400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr3:155523200-155524400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:155523200-155524400	Active TSS	Aorta	Aorta
37	chr3:155523200-155524400	Active TSS	Brain Cingulate Gyrus	brain
38	chr3:155523200-155524400	Active TSS	Brain Germinal Matrix	brain
39	chr3:155523200-155524400	Active TSS	Esophagus	oesophagus
40	chr3:155523200-155524400	Active TSS	Fetal Brain Female	brain
41	chr3:155523200-155524400	Active TSS	Gastric	stomach
42	chr3:155523200-155524400	Active TSS	Right Ventricle	heart
43	chr3:155523200-155524600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:155523200-155524600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:155523200-155524600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:155523200-155524600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr3:155523200-155524600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr3:155523200-155524600	Active TSS	Colonic Mucosa	Colon
49	chr3:155523200-155524600	Active TSS	Fetal Brain Male	brain
50	chr3:155523200-155524600	Active TSS	Fetal Kidney	kidney

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