Variant report

Variant	rs28473512
Chromosome Location	chr14:55902186-55902187
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	chr14:55894393..55896757-chr14:55902007..55905006,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10135812	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10146352	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10146485	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10146736	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10149166	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11848576	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11848826	0.96[ASN][1000 genomes]
rs12886310	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12896353	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1953739	0.98[ASN][1000 genomes]
rs28539353	0.82[ASN][1000 genomes]
rs35231647	0.82[ASN][1000 genomes]
rs4470077	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7156493	0.82[ASN][1000 genomes]
rs7156648	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7160191	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7160543	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8003684	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8003863	0.82[ASN][1000 genomes]
rs8004015	0.82[ASN][1000 genomes]
rs8004299	0.82[ASN][1000 genomes]
rs8005636	0.82[ASN][1000 genomes]
rs8006052	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8016239	0.96[ASN][1000 genomes]
rs8016831	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
3	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55897800-55907000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:55899600-55902400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:55899800-55902200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr14:55901000-55902600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:55901200-55902400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:55901200-55902400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr14:55901200-55902600	Enhancers	Primary T cells from cord blood	blood
8	chr14:55901400-55902600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr14:55901400-55903600	Weak transcription	Gastric	stomach
10	chr14:55901600-55902400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr14:55901600-55903000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:55901600-55903200	Weak transcription	Fetal Intestine Small	intestine
13	chr14:55901600-55903400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:55901600-55904000	Enhancers	HepG2	liver
15	chr14:55901600-55905200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:55901800-55903200	Weak transcription	Fetal Intestine Large	intestine
17	chr14:55901800-55903600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:55901800-55905000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:55901800-55906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:55901800-55907000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:55901800-55907800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:55902000-55903400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:55902000-55904600	Weak transcription	Hela-S3	cervix

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