Variant report

Variant	rs58411502
Chromosome Location	chr14:104285750-104285751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104283950..104288304-chr14:104311020..104314888,6	MCF-7	breast:
2	chr14:104284106..104288227-chr14:104321092..104325164,4	MCF-7	breast:
3	chr14:104283064..104288845-chr14:104312229..104317250,12	MCF-7	breast:
4	chr14:104283781..104286466-chr14:104308578..104310779,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11623518	0.83[EUR][1000 genomes]
rs11625216	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11625521	0.83[EUR][1000 genomes]
rs11625613	0.81[EUR][1000 genomes]
rs11625676	0.83[EUR][1000 genomes]
rs11626714	0.81[EUR][1000 genomes]
rs11627337	0.91[EUR][1000 genomes]
rs11851462	0.85[EUR][1000 genomes]
rs12432763	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435668	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17101871	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45604035	0.95[EUR][1000 genomes]
rs4641668	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56971743	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57560950	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57952067	0.83[EUR][1000 genomes]
rs58369398	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59320483	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60431526	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73350555	0.86[EUR][1000 genomes]
rs73350563	0.81[EUR][1000 genomes]
rs73367074	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006493	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8016928	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	nsv902320	chr14:104274294-104308095	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104276000-104286000	Weak transcription	Stomach Mucosa	stomach
2	chr14:104280800-104294800	Weak transcription	Small Intestine	intestine
3	chr14:104282000-104286200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:104283000-104288400	Enhancers	Fetal Heart	heart
5	chr14:104283200-104287400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:104283400-104287000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr14:104283600-104286000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:104284000-104287200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:104284200-104287400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:104284400-104286000	Weak transcription	Psoas Muscle	Psoas
11	chr14:104284400-104286400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr14:104284400-104287400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:104284600-104286000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:104284600-104286600	Enhancers	Gastric	stomach
15	chr14:104284600-104287200	Enhancers	Pancreas	Pancrea
16	chr14:104284600-104287400	Enhancers	Left Ventricle	heart
17	chr14:104284800-104286000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:104284800-104286000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:104284800-104287200	Enhancers	Right Ventricle	heart
20	chr14:104285000-104286000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:104285000-104286000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:104285400-104287000	Enhancers	Brain Substantia Nigra	brain
23	chr14:104285400-104287000	Enhancers	Right Atrium	heart
24	chr14:104285400-104287400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr14:104285400-104287600	Enhancers	Liver	Liver
26	chr14:104285600-104285800	Enhancers	Lung	lung
27	chr14:104285600-104286200	Enhancers	Ovary	ovary
28	chr14:104285600-104286200	Enhancers	GM12878-XiMat	blood
29	chr14:104285600-104286200	Enhancers	HepG2	liver
30	chr14:104285600-104286400	Enhancers	Colon Smooth Muscle	Colon
31	chr14:104285600-104287000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:104285600-104287200	Enhancers	Primary T cells fromperipheralblood	blood
33	chr14:104285600-104287600	Enhancers	Fetal Lung	lung

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