Variant report

Variant	rs2184562
Chromosome Location	chr14:56265176-56265177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr14:56265014-56265821	MCF-7	breast:	n/a	n/a
2	GATA3	chr14:56265010-56265916	MCF-7	breast:	n/a	n/a
3	GATA3	chr14:56265029-56265867	MCF-7	breast:	n/a	n/a
4	NR2F2	chr14:56265014-56265870	MCF-7	breast:	n/a	n/a
5	NR2F2	chr14:56264989-56265864	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:56264106..56265769-chr14:56291458..56293554,2	MCF-7	breast:
2	chr14:56263621..56267640-chr14:56269558..56273646,4	K562	blood:
3	chr14:56260506..56263007-chr14:56264941..56267935,2	K562	blood:
4	chr14:56264314..56267640-chr14:56270614..56273646,3	K562	blood:
5	chr14:56207089..56208058-chr14:56265155..56265723,2	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00520	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10130664	0.88[ASW][hapmap];0.81[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11623836	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1953360	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1953362	0.91[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1953363	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1959096	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1959097	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1959098	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2210781	0.80[CEU][hapmap]
rs2342593	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2880397	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4901603	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6573062	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6573064	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142470	0.81[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7148208	0.85[EUR][1000 genomes]
rs7155326	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7156609	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157979	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004650	0.94[ASW][hapmap];0.81[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8008648	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8019451	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8022496	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs868498	0.87[EUR][1000 genomes]
rs945275	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9944128	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv901970	chr14:56183127-56265176	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv901971	chr14:56183127-56265176	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv901976	chr14:56192577-56265176	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	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:26 , 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	chr14:56262600-56265200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:56262600-56269600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:56263000-56267000	Weak transcription	Hela-S3	cervix
9	chr14:56263400-56266400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr14:56263600-56266800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:56263600-56268000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:56263800-56266200	Weak transcription	HUVEC	blood vessel
13	chr14:56263800-56267200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:56263800-56267800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:56263800-56267800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:56264000-56265200	Weak transcription	K562	blood
17	chr14:56264000-56267000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:56264000-56267800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:56264000-56267800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:56264400-56266800	Enhancers	Fetal Intestine Small	intestine
21	chr14:56264600-56266800	Enhancers	Stomach Mucosa	stomach
22	chr14:56264800-56265600	Enhancers	Duodenum Mucosa	Duodenum
23	chr14:56264800-56266600	Enhancers	Fetal Intestine Large	intestine
24	chr14:56265000-56265400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:56265000-56266200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:56265000-56267800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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