Variant report

Variant	rs2134706
Chromosome Location	chr4:148708504-148708505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148706652..148708945-chr4:148723113..148725039,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10027921	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10032488	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11099669	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs1119887	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs11729081	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12640660	0.82[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs12645249	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12648074	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12650280	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13116955	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134018	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13136202	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1604785	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17023770	0.82[TSI][hapmap]
rs17023844	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs2055551	0.87[AMR][1000 genomes]
rs2118036	0.86[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2164527	0.81[ASN][1000 genomes]
rs4835456	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs6535556	0.90[JPT][hapmap]
rs6535558	0.87[AMR][1000 genomes]
rs6535559	0.87[AMR][1000 genomes]
rs6535561	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6822971	0.82[CEU][hapmap];0.86[GIH][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes]
rs6829479	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6837391	0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6839987	0.87[AMR][1000 genomes]
rs6840039	0.80[AMR][1000 genomes]
rs6845560	0.82[CEU][hapmap];0.86[GIH][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes]
rs7673234	0.87[AMR][1000 genomes]
rs7673606	0.82[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs9332471	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs964170	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.89[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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148698200-148708800	Weak transcription	Pancreas	Pancrea
2	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:148702000-148709600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:148702000-148710200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:148702000-148714600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:148703600-148710200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:148703800-148708600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:148703800-148713200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:148704000-148708600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:148704000-148710800	Weak transcription	HUVEC	blood vessel
11	chr4:148704000-148714600	Weak transcription	Fetal Intestine Small	intestine
12	chr4:148706200-148708800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:148706200-148709200	Enhancers	NHEK	skin
14	chr4:148706400-148709000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:148706400-148709000	Enhancers	HSMMtube	muscle
16	chr4:148706400-148710600	Enhancers	Fetal Heart	heart
17	chr4:148706400-148710600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:148706400-148710600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr4:148706400-148711000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:148706400-148711000	Enhancers	Fetal Stomach	stomach
21	chr4:148706400-148711200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:148706400-148712000	Enhancers	Colon Smooth Muscle	Colon
23	chr4:148706600-148708800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:148706600-148709000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:148706600-148709200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:148706600-148713400	Weak transcription	Thymus	Thymus
27	chr4:148707000-148709000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:148707000-148709200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr4:148707000-148710400	Enhancers	HSMM	muscle
30	chr4:148707000-148711400	Enhancers	Adipose Nuclei	Adipose
31	chr4:148707000-148711400	Enhancers	Fetal Muscle Leg	muscle
32	chr4:148707000-148711600	Enhancers	Stomach Mucosa	stomach
33	chr4:148707200-148708600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:148707400-148708800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:148707400-148708800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:148707400-148709000	Enhancers	Aorta	Aorta
37	chr4:148707400-148709000	Enhancers	Lung	lung
38	chr4:148707400-148710400	Enhancers	Gastric	stomach
39	chr4:148707400-148710800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:148707400-148710800	Enhancers	Right Atrium	heart
41	chr4:148707400-148711000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:148707400-148711000	Enhancers	NHLF	lung
43	chr4:148707400-148711400	Enhancers	Left Ventricle	heart
44	chr4:148707400-148711400	Enhancers	Ovary	ovary
45	chr4:148707600-148710000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:148707600-148710000	Weak transcription	Fetal Kidney	kidney
47	chr4:148707600-148710800	Enhancers	GM12878-XiMat	blood
48	chr4:148707800-148709000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:148707800-148710200	Weak transcription	Fetal Thymus	thymus
50	chr4:148707800-148710400	Enhancers	Rectal Smooth Muscle	rectum

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