Variant report

Variant	rs12488914
Chromosome Location	chr3:151256483-151256484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:151254596..151257098-chr3:151270755..151272685,2	K562	blood:
2	chr3:151255768..151257475-chr3:151274884..151276794,2	MCF-7	breast:
3	chr3:151255227..151257598-chr3:151259355..151262093,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12490875	0.90[ASN][1000 genomes]
rs12493481	0.90[ASN][1000 genomes]
rs12495347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55661110	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56895157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57276024	0.88[ASN][1000 genomes]
rs57570271	0.88[ASN][1000 genomes]
rs57616344	0.93[ASN][1000 genomes]
rs58875374	0.93[ASN][1000 genomes]
rs59330962	0.88[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	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv877650	chr3:151174010-151314449	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151254000-151256600	Weak transcription	Psoas Muscle	Psoas
2	chr3:151254000-151257000	Weak transcription	Fetal Stomach	stomach
3	chr3:151254400-151261200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:151254800-151256600	Enhancers	Osteobl	bone
5	chr3:151254800-151257400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:151254800-151257400	Active TSS	Ovary	ovary
7	chr3:151255000-151256600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:151255200-151257000	Enhancers	NH-A	brain
9	chr3:151255200-151257200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:151255400-151256600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:151255600-151257200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:151255600-151257200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:151255600-151257400	Enhancers	Brain Germinal Matrix	brain
14	chr3:151255600-151257600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:151255800-151257200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:151255800-151257200	Enhancers	Fetal Muscle Leg	muscle
17	chr3:151255800-151261000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:151255800-151261000	Weak transcription	HMEC	breast
19	chr3:151256000-151257000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:151256000-151257200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:151256200-151256600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:151256200-151256600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:151256200-151256600	Enhancers	Brain Substantia Nigra	brain
24	chr3:151256200-151257000	Active TSS	NHDF-Ad	bronchial
25	chr3:151256200-151257400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:151256200-151257400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:151256200-151257400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:151256200-151257400	Enhancers	Fetal Brain Male	brain
29	chr3:151256400-151256600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr3:151256400-151256600	Flanking Active TSS	Fetal Lung	lung
31	chr3:151256400-151256600	Enhancers	K562	blood
32	chr3:151256400-151256800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr3:151256400-151256800	Active TSS	Right Atrium	heart
34	chr3:151256400-151257000	Active TSS	Brain Hippocampus Middle	brain
35	chr3:151256400-151257000	Enhancers	NHLF	lung
36	chr3:151256400-151257200	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr3:151256400-151257200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:151256400-151257200	Enhancers	Rectal Smooth Muscle	rectum
39	chr3:151256400-151257400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:151256400-151257400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:151256400-151257400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:151256400-151257400	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:151256400-151257600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:151256400-151257600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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