Variant report

Variant	rs6812399
Chromosome Location	chr4:122122181-122122182
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	chr4:122120724..122123335-chr4:122133956..122135681,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10004221	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10015340	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10446733	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10454795	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11947841	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13101385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13102428	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13104663	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13104875	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13106084	0.84[ASN][1000 genomes]
rs13106137	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13107912	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13108214	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13109100	0.84[ASN][1000 genomes]
rs13112923	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13115256	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13116723	0.84[ASN][1000 genomes]
rs13116936	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118027	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13123960	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13124511	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13124522	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13125962	0.95[ASN][1000 genomes]
rs13126929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs13128962	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13129000	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13129293	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13133184	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13133221	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13133584	0.81[EUR][1000 genomes]
rs13133740	0.86[CEU][hapmap]
rs13137539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs13143534	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13151913	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13152159	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13152687	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17051320	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17051321	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2136942	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136943	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198315	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218959	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28513714	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28530598	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35449703	0.81[ASN][1000 genomes]
rs35971082	0.80[EUR][1000 genomes]
rs36087391	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3817171	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6534254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6811411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6812515	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814480	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6820363	0.81[EUR][1000 genomes]
rs6821331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6835790	1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs6838000	0.84[ASN][1000 genomes]
rs6839386	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6855628	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7680038	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684168	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896621	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9284633	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307490	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs9992960	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993163	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998339	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879860	chr4:122030864-122126808	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122119600-122122200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr4:122119600-122122400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:122120200-122122200	Enhancers	Fetal Thymus	thymus
4	chr4:122120200-122122600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr4:122120200-122122800	Flanking Active TSS	GM12878-XiMat	blood
6	chr4:122120400-122122200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr4:122120400-122122800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:122120600-122122400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:122120600-122122400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr4:122120800-122122600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:122121200-122122200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:122121200-122122600	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:122121400-122122400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:122121600-122122200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:122121600-122122400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:122121600-122122600	Enhancers	Liver	Liver
17	chr4:122121600-122122800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:122121800-122122200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr4:122121800-122122200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr4:122121800-122122200	Enhancers	Fetal Lung	lung
21	chr4:122121800-122122200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr4:122121800-122122400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:122122000-122122200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr4:122122000-122122200	Enhancers	Primary T helper cells PMA-I stimulated	--

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