Variant report

Variant	rs12886883
Chromosome Location	chr14:56267186-56267187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:56267047-56267230	MCF10A-Er-Src	breast:	n/a	n/a

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	chr14:56266295..56268885-chr14:56682625..56685589,2	K562	blood:
4	chr14:56266308..56267973-chr14:56270310..56271812,2	MCF-7	breast:
5	chr14:56264314..56267640-chr14:56270614..56273646,3	K562	blood:

Variant related genes	Relation type
LINC00520	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12588231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12588715	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12589557	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12590605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12878170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12886283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12887415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12888134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12891989	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12892029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12892971	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12896271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12898084	1.00[AFR][1000 genomes]
rs17128832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17128847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17128862	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17128871	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17128875	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17128879	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1953359	0.85[ASN][1000 genomes]
rs1953361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2095490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34130924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34181761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34190854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34403994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34749214	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34831029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34973073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35177157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35201150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35361184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35604109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35657227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35787613	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35847182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35874101	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35969016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57997565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71412699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7149370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7154675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7158865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7161015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	chr14:56263600-56268000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:56263800-56267200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr14:56263800-56267800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:56263800-56267800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:56264000-56267800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:56264000-56267800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:56265000-56267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr14:56265200-56267800	Enhancers	K562	blood
15	chr14:56265400-56267200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:56265600-56267800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr14:56265600-56269600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:56266200-56267200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:56266200-56267200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:56266200-56268000	Enhancers	HUVEC	blood vessel
21	chr14:56266400-56267200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:56266600-56269600	Weak transcription	Fetal Intestine Large	intestine
23	chr14:56266800-56267200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr14:56266800-56269000	Weak transcription	Stomach Mucosa	stomach
25	chr14:56267000-56268000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:56267000-56269800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:56267000-56270200	Enhancers	Hela-S3	cervix

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