Variant report

Variant	rs12650280
Chromosome Location	chr4:148711301-148711302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148662885..148664901-chr4:148710340..148713204,2	MCF-7	breast:
2	chr4:148697444..148700218-chr4:148710161..148711929,2	MCF-7	breast:
3	chr4:148706733..148708272-chr4:148709553..148712261,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10001327	0.83[EUR][1000 genomes]
rs10027921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10032488	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10857227	0.82[AFR][1000 genomes]
rs11099669	0.87[AMR][1000 genomes]
rs11729081	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12645249	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12648074	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13116955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134018	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13136202	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1604785	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2055551	0.87[AMR][1000 genomes]
rs2118036	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2134706	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164527	0.81[ASN][1000 genomes]
rs4835456	0.84[ASN][1000 genomes]
rs6535558	0.87[AMR][1000 genomes]
rs6535559	0.87[AMR][1000 genomes]
rs6535561	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6822971	0.87[AMR][1000 genomes]
rs6829479	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6837391	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6839987	0.87[AMR][1000 genomes]
rs6840039	0.80[AMR][1000 genomes]
rs6845560	0.87[AMR][1000 genomes]
rs7673234	0.87[AMR][1000 genomes]
rs7673606	0.87[AMR][1000 genomes]
rs9332471	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs964170	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:148702000-148714600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:148703800-148713200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:148704000-148714600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:148706400-148712000	Enhancers	Colon Smooth Muscle	Colon
6	chr4:148706600-148713400	Weak transcription	Thymus	Thymus
7	chr4:148707000-148711400	Enhancers	Adipose Nuclei	Adipose
8	chr4:148707000-148711400	Enhancers	Fetal Muscle Leg	muscle
9	chr4:148707000-148711600	Enhancers	Stomach Mucosa	stomach
10	chr4:148707400-148711400	Enhancers	Left Ventricle	heart
11	chr4:148707400-148711400	Enhancers	Ovary	ovary
12	chr4:148707800-148711600	Enhancers	NHDF-Ad	bronchial
13	chr4:148707800-148714600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:148708000-148713000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:148708400-148714800	Weak transcription	Small Intestine	intestine
16	chr4:148708400-148721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:148708600-148713400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:148708800-148711600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:148708800-148712800	Weak transcription	Placenta	Placenta
20	chr4:148708800-148713000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:148709000-148712600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:148709000-148713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:148709000-148713600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:148709000-148714000	Weak transcription	Aorta	Aorta
25	chr4:148709000-148714600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:148709000-148714600	Weak transcription	NH-A	brain
27	chr4:148709000-148714800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:148709000-148721200	Weak transcription	Lung	lung
29	chr4:148709000-148721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:148709000-148721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:148709000-148721400	Weak transcription	Esophagus	oesophagus
32	chr4:148709200-148712600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:148709200-148713600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:148709200-148714600	Weak transcription	Osteobl	bone
35	chr4:148709400-148711600	Enhancers	Pancreas	Pancrea
36	chr4:148710200-148711600	Enhancers	Psoas Muscle	Psoas
37	chr4:148710400-148711800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:148710400-148713000	Weak transcription	Gastric	stomach
39	chr4:148710400-148713200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:148710400-148713600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:148710400-148713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:148710400-148714600	Weak transcription	Fetal Intestine Large	intestine
43	chr4:148710400-148729600	Weak transcription	HSMM	muscle
44	chr4:148710600-148712600	Weak transcription	Fetal Heart	heart
45	chr4:148710600-148712800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:148710600-148713000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:148710600-148713000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:148710600-148713200	Weak transcription	Fetal Thymus	thymus
49	chr4:148710600-148713200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:148710600-148714600	Weak transcription	Fetal Lung	lung

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