Variant report

Variant	rs28498087
Chromosome Location	chr14:56266000-56266001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56263621..56267640-chr14:56269558..56273646,4	K562	blood:
2	chr14:56260506..56263007-chr14:56264941..56267935,2	K562	blood:
3	chr14:56264314..56267640-chr14:56270614..56273646,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10130136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133911	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140629	0.89[ASN][1000 genomes]
rs10142391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142961	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144024	0.89[ASN][1000 genomes]
rs10145894	0.89[ASN][1000 genomes]
rs10147997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520487	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28540836	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153419	1.00[EUR][1000 genomes]
rs7154894	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56257600-56271600	Weak transcription	Gastric	stomach
2	chr14:56261800-56267400	Weak transcription	NHEK	skin
3	chr14:56262000-56269600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:56262200-56267600	Weak transcription	HMEC	breast
5	chr14:56262200-56269800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:56262600-56269600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:56263000-56267000	Weak transcription	Hela-S3	cervix
8	chr14:56263400-56266400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr14:56263600-56266800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:56263600-56268000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:56263800-56266200	Weak transcription	HUVEC	blood vessel
12	chr14:56263800-56267200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr14:56263800-56267800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:56263800-56267800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr14:56264000-56267000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:56264000-56267800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:56264000-56267800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:56264400-56266800	Enhancers	Fetal Intestine Small	intestine
19	chr14:56264600-56266800	Enhancers	Stomach Mucosa	stomach
20	chr14:56264800-56266600	Enhancers	Fetal Intestine Large	intestine
21	chr14:56265000-56266200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:56265000-56267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:56265200-56267800	Enhancers	K562	blood
24	chr14:56265400-56267200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:56265600-56267800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr14:56265600-56269600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:56265800-56266200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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