Variant report

Variant	rs10027921
Chromosome Location	chr4:148712135-148712136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148662885..148664901-chr4:148710340..148713204,2	MCF-7	breast:
2	chr4:148706733..148708272-chr4:148709553..148712261,2	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]
rs10001327	0.83[EUR][1000 genomes]
rs10032488	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11099669	1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs1119887	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs11729081	0.84[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12640660	0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs12645249	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];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]
rs12650280	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13116955	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134018	0.81[CHB][hapmap];1.00[JPT][hapmap];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[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17023844	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs2055551	0.87[AMR][1000 genomes]
rs2118036	0.86[ASW][hapmap];0.92[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];0.88[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2134706	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]
rs2164527	0.81[ASN][1000 genomes]
rs4835456	0.84[ASN][1000 genomes]
rs6535556	0.90[JPT][hapmap]
rs6535558	0.87[AMR][1000 genomes]
rs6535559	0.87[AMR][1000 genomes]
rs6535561	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6822971	0.86[GIH][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes]
rs6829479	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6837391	0.94[YRI][hapmap];0.86[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	0.86[GIH][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes]
rs7673234	0.87[AMR][1000 genomes]
rs7673606	1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs9332471	0.84[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs964170	0.84[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];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	chr4:148706600-148713400	Weak transcription	Thymus	Thymus
6	chr4:148707800-148714600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:148708000-148713000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:148708400-148714800	Weak transcription	Small Intestine	intestine
9	chr4:148708400-148721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:148708600-148713400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:148708800-148712800	Weak transcription	Placenta	Placenta
12	chr4:148708800-148713000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:148709000-148712600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:148709000-148713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:148709000-148713600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:148709000-148714000	Weak transcription	Aorta	Aorta
17	chr4:148709000-148714600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:148709000-148714600	Weak transcription	NH-A	brain
19	chr4:148709000-148714800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:148709000-148721200	Weak transcription	Lung	lung
21	chr4:148709000-148721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:148709000-148721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:148709000-148721400	Weak transcription	Esophagus	oesophagus
24	chr4:148709200-148712600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:148709200-148713600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:148709200-148714600	Weak transcription	Osteobl	bone
27	chr4:148710400-148713000	Weak transcription	Gastric	stomach
28	chr4:148710400-148713200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:148710400-148713600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:148710400-148713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:148710400-148714600	Weak transcription	Fetal Intestine Large	intestine
32	chr4:148710400-148729600	Weak transcription	HSMM	muscle
33	chr4:148710600-148712600	Weak transcription	Fetal Heart	heart
34	chr4:148710600-148712800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:148710600-148713000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:148710600-148713000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:148710600-148713200	Weak transcription	Fetal Thymus	thymus
38	chr4:148710600-148713200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:148710600-148714600	Weak transcription	Fetal Lung	lung
40	chr4:148710800-148712600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:148710800-148713200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:148710800-148714600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:148710800-148714600	Weak transcription	Right Atrium	heart
44	chr4:148710800-148714600	Weak transcription	Right Ventricle	heart
45	chr4:148711000-148714600	Weak transcription	NHLF	lung
46	chr4:148711000-148714800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:148711000-148714800	Weak transcription	Fetal Kidney	kidney
48	chr4:148711000-148720200	Weak transcription	Fetal Stomach	stomach
49	chr4:148711000-148729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:148711200-148713800	Enhancers	NHEK	skin

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