Variant report

Variant	rs12649533
Chromosome Location	chr4:101014319-101014320
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:101013911..101015173-chr4:101231169..101232872,9	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12502279	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12505112	0.99[ASN][1000 genomes]
rs12506869	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12513071	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12640004	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12642221	0.99[ASN][1000 genomes]
rs12650258	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4235443	0.99[ASN][1000 genomes]
rs4532240	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55666457	0.98[ASN][1000 genomes]
rs55728175	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55907205	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55915722	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56186276	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62306138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62306147	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62306151	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6823618	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7675143	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv427689	chr4:100931741-101216531	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830018	chr4:100977238-101027920	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101007800-101028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:101008600-101017800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:101009000-101014400	Weak transcription	NHEK	skin
4	chr4:101009200-101014400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:101009200-101017600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:101009600-101014400	Weak transcription	Adipose Nuclei	Adipose
7	chr4:101009800-101014400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:101009800-101014400	Weak transcription	Fetal Lung	lung
9	chr4:101009800-101014800	Weak transcription	Placenta	Placenta
10	chr4:101010200-101014400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:101013400-101015200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:101013400-101016800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:101013600-101015800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:101013600-101017000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr4:101013800-101015000	Enhancers	Fetal Stomach	stomach
16	chr4:101013800-101015200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr4:101013800-101015200	Enhancers	Rectal Smooth Muscle	rectum
18	chr4:101014000-101014600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:101014000-101015200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:101014000-101015400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:101014000-101016000	Enhancers	Colon Smooth Muscle	Colon
22	chr4:101014200-101014600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:101014200-101015000	Enhancers	Fetal Kidney	kidney
24	chr4:101014200-101015200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr4:101014200-101015200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:101014200-101015200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:101014200-101015200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:101014200-101015200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:101014200-101015200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:101014200-101015200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:101014200-101015400	Enhancers	Dnd41	blood
32	chr4:101014200-101015600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:101014200-101015800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:101014200-101016800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:101014200-101017400	Enhancers	Skeletal Muscle Male	skeletal muscle

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