Variant report

Variant	rs28398258
Chromosome Location	chr15:73064744-73064745
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	chr15:73063311..73065020-chr15:73065079..73066716,2	K562	blood:
2	chr15:73064606..73067353-chr15:73384208..73386751,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11072387	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439375	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12440951	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12592955	0.83[AFR][1000 genomes]
rs12594667	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12594844	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12594938	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957293	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2012253	0.80[ASN][1000 genomes]
rs2278543	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2415166	0.91[ASN][1000 genomes]
rs28502551	0.87[AFR][1000 genomes]
rs3179616	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34337823	0.83[AFR][1000 genomes]
rs35136341	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3759870	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4776611	0.87[AFR][1000 genomes]
rs4776616	0.91[ASN][1000 genomes]
rs4777529	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4777530	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4777531	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4777533	0.93[ASN][1000 genomes]
rs4777537	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4777538	0.97[ASN][1000 genomes]
rs4777540	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4777543	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4777545	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56915357	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57621041	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58600393	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59049627	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59152128	0.87[AFR][1000 genomes]
rs60601886	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs60674997	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61311866	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62017593	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62017598	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62017623	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7178409	0.86[ASN][1000 genomes]
rs72662112	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72737337	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs730180	0.80[ASN][1000 genomes]
rs7495022	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8032586	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73041800-73071000	Strong transcription	Liver	Liver
2	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
3	chr15:73044200-73067600	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:73045400-73066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:73045600-73067400	Strong transcription	Placenta	Placenta
8	chr15:73046800-73067600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:73055400-73066600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:73057200-73069600	Strong transcription	Hela-S3	cervix
12	chr15:73057800-73067800	Weak transcription	Fetal Heart	heart
13	chr15:73058400-73064800	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr15:73058400-73065000	Strong transcription	Osteobl	bone
15	chr15:73058400-73065200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:73058400-73065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:73058400-73069000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:73058600-73067400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:73058800-73065600	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:73059200-73066800	Weak transcription	Fetal Brain Male	brain
21	chr15:73059200-73069600	Strong transcription	HSMM	muscle
22	chr15:73059800-73066600	Strong transcription	Adipose Nuclei	Adipose
23	chr15:73060000-73065400	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr15:73060000-73067400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr15:73060000-73074000	Weak transcription	Stomach Mucosa	stomach
26	chr15:73060000-73075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:73060200-73065600	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:73060200-73067200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:73060200-73067200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:73060200-73067400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr15:73060200-73067400	Strong transcription	NH-A	brain
32	chr15:73060200-73067800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:73060200-73075200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr15:73060400-73066000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr15:73060400-73067200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:73060400-73067400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:73060400-73067600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:73060400-73068200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:73060400-73070800	Strong transcription	Dnd41	blood
40	chr15:73060400-73073200	Weak transcription	Colon Smooth Muscle	Colon
41	chr15:73060600-73067000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:73060600-73067200	Strong transcription	Primary T cells from cord blood	blood
43	chr15:73060600-73067400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:73060600-73068000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:73060600-73068200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:73060600-73072000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr15:73060800-73066000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:73060800-73066000	Strong transcription	Primary B cells from cord blood	blood
49	chr15:73060800-73067200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:73060800-73067200	Strong transcription	Brain Substantia Nigra	brain

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