Variant report

Variant	rs32977
Chromosome Location	chr5:14119057-14119058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14118650..14121967-chr5:14142611..14144967,3	MCF-7	breast:
2	chr5:14117892..14119794-chr5:14142984..14144807,2	MCF-7	breast:
3	chr5:14010998..14013297-chr5:14117921..14120425,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs163813	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs163814	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs163826	1.00[TSI][hapmap]
rs180738	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs185203	0.85[TSI][hapmap]
rs250844	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs250847	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs26290	1.00[CEU][hapmap]
rs26292	1.00[CEU][hapmap]
rs27367	1.00[CEU][hapmap]
rs27632	1.00[CEU][hapmap]
rs27666	1.00[CEU][hapmap]
rs32976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs32978	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs32979	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33028	1.00[CEU][hapmap]
rs33029	1.00[CEU][hapmap]
rs33030	1.00[CEU][hapmap]
rs343883	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs348113	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs348114	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs348116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432716	chr5:13779700-14184600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2830407	chr5:13793627-14172298	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1020810	chr5:13798819-14160981	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1024836	chr5:13798819-14170244	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1020626	chr5:13798819-14177235	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong 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	31 gene(s)	inside rSNPs	diseases
8	nsv1015479	chr5:13798819-14180804	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2760949	chr5:13798819-14182550	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1017356	chr5:13798819-14182550	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1018474	chr5:13798819-14184599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv1024037	chr5:13798819-14185039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv1030787	chr5:13799381-14180804	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv1018784	chr5:13815834-14178505	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
15	nsv537672	chr5:13815834-14178505	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
16	nsv530219	chr5:13829361-14168901	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	nsv1027816	chr5:13847043-14172158	Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
18	nsv537673	chr5:13847043-14172158	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
20	nsv1020258	chr5:13849471-14178505	Genic enhancers Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
21	nsv537674	chr5:13849471-14178505	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
22	esv2752061	chr5:14109455-14178040	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14115200-14124200	Weak transcription	HMEC	breast
2	chr5:14117400-14120600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:14117600-14120800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:14118000-14119600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:14118400-14119400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:14118400-14119600	Enhancers	HSMM	muscle
7	chr5:14118400-14119800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:14118400-14120000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:14118600-14119200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:14118600-14119200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:14118600-14119400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:14118600-14119400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:14118600-14119400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:14118600-14119400	Enhancers	Right Atrium	heart
15	chr5:14118600-14119400	Flanking Active TSS	HSMMtube	muscle
16	chr5:14118600-14119400	Enhancers	NH-A	brain
17	chr5:14118600-14119600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:14118600-14119600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:14118600-14119800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:14118600-14119800	Enhancers	Fetal Muscle Trunk	muscle
21	chr5:14118600-14119800	Enhancers	Fetal Muscle Leg	muscle
22	chr5:14118600-14120000	Enhancers	Brain Hippocampus Middle	brain
23	chr5:14118600-14120200	Enhancers	Brain Angular Gyrus	brain
24	chr5:14118600-14120400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:14118600-14120600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:14118600-14120600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:14118800-14119200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:14118800-14119200	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr5:14118800-14119400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:14118800-14119400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:14118800-14119400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr5:14118800-14119400	Enhancers	Placenta	Placenta
33	chr5:14118800-14119400	Enhancers	Psoas Muscle	Psoas
34	chr5:14118800-14119600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:14118800-14119800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:14118800-14119800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:14118800-14119800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:14118800-14120200	Enhancers	Fetal Heart	heart
39	chr5:14118800-14120600	Enhancers	Left Ventricle	heart
40	chr5:14119000-14119200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr5:14119000-14119200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:14119000-14119200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:14119000-14119200	Bivalent/Poised TSS	HepG2	liver
44	chr5:14119000-14119400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:14119000-14119400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:14119000-14119400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:14119000-14119400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:14119000-14119400	Active TSS	Brain Anterior Caudate	brain
49	chr5:14119000-14119400	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr5:14119000-14119400	Flanking Active TSS	Brain Substantia Nigra	brain

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