Variant report

Variant	rs11999551
Chromosome Location	chr9:96720400-96720401
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr9:96719499-96722002	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr9:96720002-96722078	H1-hESC	embryonic stem cell:	n/a	n/a
3	HMGN3	chr9:96720343-96720416	K562	blood:	n/a	n/a
4	SUZ12	chr9:96720177-96723275	NT2-D1	testis:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96709646..96715968-chr9:96715980..96721050,10	MCF-7	breast:
2	chr9:96718522..96721455-chr9:96725392..96727968,2	MCF-7	breast:
3	chr9:96442742..96446259-chr9:96719078..96722660,3	MCF-7	breast:
4	chr9:96720222..96721910-chr9:96722308..96724040,2	MCF-7	breast:

No data

Variant related genes	Relation type
BARX1	TF binding region
ENSG00000131668	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1057713	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10821273	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10821274	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11788035	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11999521	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12005806	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1320546	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13283836	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13291289	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933680	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1933681	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1933682	0.88[AMR][1000 genomes]
rs2095778	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35001304	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4437716	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4563951	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56285369	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7034685	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7872123	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv824993	chr9:96699362-96725105	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893590	chr9:96701287-96729129	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96718400-96720800	Weak transcription	Right Atrium	heart
2	chr9:96718400-96721000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:96718400-96721200	Weak transcription	Pancreas	Pancrea
4	chr9:96718400-96722000	Weak transcription	Hela-S3	cervix
5	chr9:96718600-96720400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
6	chr9:96719200-96722000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr9:96719400-96721200	Weak transcription	Gastric	stomach
8	chr9:96720200-96720400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr9:96720200-96720800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr9:96720200-96721000	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr9:96720200-96721200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr9:96720400-96720600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:96720400-96720600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:96720400-96720600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr9:96720400-96720600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr9:96720400-96720600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:96720400-96720600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
18	chr9:96720400-96720600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:96720400-96720800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:96720400-96721000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr9:96720400-96721000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr9:96720400-96721000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr9:96720400-96721000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr9:96720400-96721000	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr9:96720400-96721000	Bivalent/Poised TSS	Fetal Stomach	stomach
26	chr9:96720400-96721200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr9:96720400-96721600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:96720400-96723200	Bivalent Enhancer	Placenta	Placenta
29	chr9:96720400-96724400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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