Variant report

Variant	rs2298579
Chromosome Location	chr11:120170521-120170522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr11:120170397-120171056	Hela-S3	cervix:	n/a	chr11:120170737-120170749 chr11:120170818-120170829 chr11:120170820-120170829 chr11:120170819-120170828
2	RAD21	chr11:120170458-120171212	MCF-7	breast:	n/a	n/a
3	REST	chr11:120170434-120171173	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr11:120170373-120171272	HCT-116	colon:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
5	CTCF	chr11:120170480-120170630	GM12872	blood:	n/a	n/a
6	RAD21	chr11:120170496-120171141	H1-hESC	embryonic stem cell:	n/a	n/a
7	ELF1	chr11:120170516-120171052	MCF-7	breast:	n/a	n/a
8	RAD21	chr11:120170381-120171125	HCT-116	colon:	n/a	n/a
9	CTCF	chr11:120170438-120171267	SK-N-SH	brain:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
10	RAD21	chr11:120169903-120171287	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr11:120170380-120170530	AG04449	skin:	n/a	n/a
12	CTCF	chr11:120170500-120170650	HEK293	kidney:	n/a	n/a
13	SMC3	chr11:120169886-120171278	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr11:120170473-120171198	HCT-116	colon:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:119992154..119994463-chr11:120170248..120173038,2	MCF-7	breast:
2	chr11:120166386..120168824-chr11:120169274..120170936,2	K562	blood:
3	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
4	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
5	chr11:120149912..120152911-chr11:120168871..120171487,3	K562	blood:
6	chr11:120104850..120106373-chr11:120170312..120171433,18	MCF-7	breast:
7	chr11:120099751..120100618-chr11:120170383..120171309,2	K562	blood:
8	chr11:120105385..120106108-chr11:120170023..120170943,3	MCF-7	breast:
9	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
10	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
11	chr11:120111108..120111706-chr11:120170386..120171294,4	K562	blood:
12	chr11:120105076..120106736-chr11:120169805..120171450,18	K562	blood:
13	chr11:120042758..120043591-chr11:120170404..120171318,5	K562	blood:
14	chr11:120129227..120130037-chr11:120170286..120170874,2	MCF-7	breast:

No data

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000137699	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11217786	0.85[ASN][1000 genomes]
rs11217797	1.00[ASW][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs11217798	0.89[ASN][1000 genomes]
rs11217799	1.00[ASW][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs11217800	0.89[ASN][1000 genomes]
rs11217802	0.92[ASN][1000 genomes]
rs11217803	0.92[ASN][1000 genomes]
rs11217804	0.92[ASN][1000 genomes]
rs11217805	0.92[ASN][1000 genomes]
rs11217806	1.00[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11217807	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11217810	1.00[EUR][1000 genomes]
rs11217813	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[EUR][1000 genomes]
rs12224052	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12225696	0.92[ASN][1000 genomes]
rs12226688	1.00[EUR][1000 genomes]
rs12418329	1.00[ASW][hapmap]
rs12576881	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[EUR][1000 genomes]
rs1941410	0.89[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]
rs3824883	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4142654	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4616049	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs744984	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120167800-120170800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:120168800-120170800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr11:120169400-120170800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:120169600-120178200	Enhancers	Placenta	Placenta
5	chr11:120169800-120171200	Enhancers	NHEK	skin
6	chr11:120170000-120170800	Enhancers	HMEC	breast
7	chr11:120170000-120171200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:120170200-120170800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr11:120170200-120170800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:120170200-120170800	Enhancers	Pancreas	Pancrea
11	chr11:120170200-120170800	Enhancers	GM12878-XiMat	blood
12	chr11:120170200-120170800	Enhancers	Hela-S3	cervix
13	chr11:120170200-120171000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:120170200-120171200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:120170200-120171200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr11:120170200-120171400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:120170200-120171600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:120170400-120170600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr11:120170400-120170600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:120170400-120170600	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr11:120170400-120170800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:120170400-120170800	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr11:120170400-120170800	Enhancers	Esophagus	oesophagus
24	chr11:120170400-120170800	Enhancers	Fetal Intestine Large	intestine
25	chr11:120170400-120170800	Enhancers	Fetal Intestine Small	intestine
26	chr11:120170400-120170800	Enhancers	A549	lung
27	chr11:120170400-120171000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr11:120170400-120171200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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