Variant report

Variant	rs7221149
Chromosome Location	chr17:45148258-45148259
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45145658..45148463-chr17:45161187..45163786,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11079743	1.00[EUR][1000 genomes]
rs1625900	1.00[EUR][1000 genomes]
rs1634270	1.00[EUR][1000 genomes]
rs1638447	1.00[EUR][1000 genomes]
rs1638449	1.00[EUR][1000 genomes]
rs1662595	1.00[EUR][1000 genomes]
rs1662598	1.00[EUR][1000 genomes]
rs183199	1.00[EUR][1000 genomes]
rs197921	1.00[EUR][1000 genomes]
rs197933	1.00[EUR][1000 genomes]
rs197934	1.00[EUR][1000 genomes]
rs197940	1.00[EUR][1000 genomes]
rs2018281	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2108922	1.00[EUR][1000 genomes]
rs221600	1.00[EUR][1000 genomes]
rs28377288	1.00[EUR][1000 genomes]
rs28740955	1.00[EUR][1000 genomes]
rs3851783	1.00[EUR][1000 genomes]
rs4083002	1.00[EUR][1000 genomes]
rs4968289	1.00[EUR][1000 genomes]
rs7211075	1.00[EUR][1000 genomes]
rs73316337	1.00[EUR][1000 genomes]
rs73329161	1.00[EUR][1000 genomes]
rs8064340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064568	1.00[EUR][1000 genomes]
rs8071980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8078556	1.00[EUR][1000 genomes]
rs8080767	1.00[EUR][1000 genomes]
rs858674	1.00[EUR][1000 genomes]
rs908360	1.00[EUR][1000 genomes]
rs9893406	1.00[EUR][1000 genomes]
rs9893495	1.00[EUR][1000 genomes]
rs9910543	1.00[EUR][1000 genomes]
rs9915693	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv522797	chr17:45084279-45183152	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers 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 target site	12 gene(s)	inside rSNPs	diseases
9	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	esv21010	chr17:45125753-45177221	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1059766	chr17:45130765-45203468	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	esv9886	chr17:45142849-45153796	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv978431	chr17:45146826-45151336	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45145000-45148400	Weak transcription	Adipose Nuclei	Adipose
2	chr17:45145000-45148400	Weak transcription	Colonic Mucosa	Colon
3	chr17:45145000-45148600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr17:45145000-45148600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:45145000-45148600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr17:45145000-45148600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:45145000-45148600	Weak transcription	Left Ventricle	heart
8	chr17:45145000-45148800	Weak transcription	Fetal Intestine Large	intestine
9	chr17:45145000-45149400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:45145000-45149400	Weak transcription	Fetal Stomach	stomach
11	chr17:45145000-45149400	Weak transcription	Ovary	ovary
12	chr17:45145000-45149400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr17:45145000-45149800	Weak transcription	Spleen	Spleen
14	chr17:45145000-45150000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:45145000-45150000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:45145000-45150000	Weak transcription	Esophagus	oesophagus
17	chr17:45145000-45150000	Weak transcription	HSMM	muscle
18	chr17:45145000-45150200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr17:45145000-45150200	Weak transcription	Brain Hippocampus Middle	brain
20	chr17:45145000-45151600	Weak transcription	Psoas Muscle	Psoas
21	chr17:45145000-45152200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:45145000-45152400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:45145000-45158800	Weak transcription	NHLF	lung
24	chr17:45145000-45163600	Weak transcription	Aorta	Aorta
25	chr17:45145000-45163800	Weak transcription	Small Intestine	intestine
26	chr17:45145000-45164600	Weak transcription	Brain Angular Gyrus	brain
27	chr17:45145000-45169800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:45145000-45169800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:45145000-45169800	Weak transcription	Fetal Lung	lung
30	chr17:45145000-45176400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:45145000-45176600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr17:45145000-45176800	Weak transcription	Lung	lung
33	chr17:45145200-45148400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:45145200-45148600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr17:45145200-45148600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr17:45145200-45148600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr17:45145200-45150200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:45145200-45150200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:45145200-45150200	Weak transcription	GM12878-XiMat	blood
40	chr17:45145200-45157400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:45145200-45158800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:45145200-45162200	Weak transcription	HepG2	liver
43	chr17:45145200-45169200	Weak transcription	Primary B cells from cord blood	blood
44	chr17:45145200-45170200	Weak transcription	Brain Germinal Matrix	brain
45	chr17:45145200-45176600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr17:45145400-45176000	Weak transcription	Primary T cells from cord blood	blood
47	chr17:45146000-45158600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:45146200-45149000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:45146400-45150000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:45146400-45169800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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