Variant report

Variant	rs10017221
Chromosome Location	chr4:122120826-122120827
allele	A/C
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: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10000692	1.00[YRI][hapmap]
rs10004021	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10009822	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10021787	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11938699	0.83[AMR][1000 genomes]
rs17051305	0.83[AMR][1000 genomes]
rs17051318	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs17051319	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs28452005	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28452943	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28567402	0.83[AMR][1000 genomes]
rs28572759	1.00[AMR][1000 genomes]
rs28600934	0.83[AMR][1000 genomes]
rs28669888	1.00[AMR][1000 genomes]
rs28707603	1.00[AMR][1000 genomes]
rs6534255	1.00[AMR][1000 genomes]
rs6534256	1.00[AMR][1000 genomes]
rs6817294	0.83[AMR][1000 genomes]
rs6825601	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs6840309	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6845343	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6847595	1.00[AMR][1000 genomes]
rs6847834	1.00[AMR][1000 genomes]
rs6847971	1.00[AMR][1000 genomes]
rs6852366	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7682759	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7684215	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs7684241	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684464	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs7684586	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs9784553	0.83[AMR][1000 genomes]
rs9992473	0.83[AMR][1000 genomes]
rs9992978	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9995558	0.86[AFR][1000 genomes];0.83[AMR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122119400-122121800	Weak transcription	Fetal Lung	lung
2	chr4:122119600-122121200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:122119600-122121600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:122119600-122122200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr4:122119600-122122400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:122119800-122121600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr4:122120200-122121400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:122120200-122121800	Enhancers	Dnd41	blood
9	chr4:122120200-122122200	Enhancers	Fetal Thymus	thymus
10	chr4:122120200-122122600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr4:122120200-122122800	Flanking Active TSS	GM12878-XiMat	blood
12	chr4:122120400-122121000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:122120400-122121800	Enhancers	Primary T cells from cord blood	blood
14	chr4:122120400-122121800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr4:122120400-122122200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr4:122120400-122122800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:122120600-122121200	Enhancers	Thymus	Thymus
18	chr4:122120600-122121600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr4:122120600-122122400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:122120600-122122400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr4:122120800-122121000	Enhancers	Small Intestine	intestine
22	chr4:122120800-122121800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr4:122120800-122121800	Enhancers	Duodenum Mucosa	Duodenum
24	chr4:122120800-122121800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr4:122120800-122122600	Enhancers	Primary monocytes fromperipheralblood	blood

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