Variant report

Variant	rs11235729
Chromosome Location	chr11:73098326-73098327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73098239-73098659	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:73098297-73098380	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:73098273-73098477	K562	blood:	n/a	n/a
4	EP300	chr11:73098321-73099389	ECC-1	luminal epithelium:	n/a	n/a
5	BHLHE40	chr11:73098295-73098476	GM12878	blood:	n/a	n/a
6	MTA3	chr11:73098121-73099668	GM12878	blood:	n/a	n/a
7	SPI1	chr11:73098253-73098560	HL-60	blood:	n/a	n/a
8	EP300	chr11:73098266-73098477	GM12878	blood:	n/a	chr11:73098292-73098308
9	SPI1	chr11:73098260-73098446	K562	blood:	n/a	n/a
10	POLR2A	chr11:73098106-73111810	GM12878	blood:	n/a	n/a
11	SPI1	chr11:73098165-73098470	GM12891	blood:	n/a	n/a
12	MAX	chr11:73098166-73099143	NB4	blood:	n/a	chr11:73098681-73098690
13	POLR2A	chr11:73098060-73100184	HL-60	blood:	n/a	n/a
14	TBL1XR1	chr11:73098245-73098472	GM12878	blood:	n/a	n/a
15	EBF1	chr11:73098186-73098811	GM12878	blood:	n/a	n/a
16	RUNX3	chr11:73098132-73098698	GM12878	blood:	n/a	n/a
17	MYC	chr11:73098163-73098531	NB4	blood:	n/a	n/a
18	FOXM1	chr11:73098150-73098589	GM12878	blood:	n/a	n/a
19	RCOR1	chr11:73098294-73098454	GM12878	blood:	n/a	n/a
20	SPI1	chr11:73098170-73098573	GM12891	blood:	n/a	n/a
21	SPI1	chr11:73097929-73098769	GM12878	blood:	n/a	n/a
22	SPI1	chr11:73098241-73098541	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:73098216-73098423	GM12878	blood:	n/a	n/a
24	SPI1	chr11:73098275-73098432	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:73098107-73100258	HL-60	blood:	n/a	n/a
26	ZBTB7A	chr11:73098253-73099017	ECC-1	luminal epithelium:	n/a	n/a
27	MAZ	chr11:73098273-73098774	GM12878	blood:	n/a	chr11:73098681-73098690
28	RUNX3	chr11:73098112-73099012	GM12878	blood:	n/a	n/a
29	CHD2	chr11:73098207-73098656	GM12878	blood:	n/a	n/a
30	EP300	chr11:73098201-73098672	GM12878	blood:	n/a	chr11:73098292-73098308
31	CHD1	chr11:73098255-73098455	GM12878	blood:	n/a	n/a
32	MAX	chr11:73098275-73098489	GM12878	blood:	n/a	n/a
33	STAT5A	chr11:73098185-73098544	GM12878	blood:	n/a	n/a
34	EBF1	chr11:73098322-73098690	GM12878	blood:	n/a	n/a
35	SPI1	chr11:73098068-73098688	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:73097268..73098971-chr11:73100387..73103258,2	MCF-7	breast:
2	chr11:73066533..73068144-chr11:73097235..73098913,2	K562	blood:
3	chr11:73061043..73065254-chr11:73095025..73099626,5	MCF-7	breast:
4	chr11:73018822..73020810-chr11:73096361..73098684,2	MCF-7	breast:
5	chr11:73064939..73068033-chr11:73095872..73098913,3	K562	blood:

No data

Variant related genes	Relation type
RELT	TF binding region
ENSG00000257038	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1002126	0.86[ASN][1000 genomes]
rs10047442	0.84[EUR][1000 genomes]
rs10793060	0.89[EUR][1000 genomes]
rs10898920	0.83[EUR][1000 genomes]
rs11235743	0.89[EUR][1000 genomes]
rs11235746	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11820037	0.82[ASN][1000 genomes]
rs11820929	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11823923	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11824050	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11824614	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11826896	0.86[ASN][1000 genomes]
rs11826909	0.86[ASN][1000 genomes]
rs11827650	0.82[ASN][1000 genomes]
rs12275766	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12282282	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12288753	0.82[ASN][1000 genomes]
rs12290623	0.82[ASN][1000 genomes]
rs12293998	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12294659	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1894076	0.82[ASN][1000 genomes]
rs1939382	0.86[EUR][1000 genomes]
rs2298469	0.82[ASN][1000 genomes]
rs2298807	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28641751	0.86[ASN][1000 genomes]
rs3741148	0.89[EUR][1000 genomes]
rs55771351	0.82[ASN][1000 genomes]
rs56801796	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57592318	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58364325	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60700454	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61131329	0.82[ASN][1000 genomes]
rs6592519	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6592520	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6592521	0.82[ASN][1000 genomes]
rs6592523	0.90[EUR][1000 genomes]
rs7114009	0.82[ASN][1000 genomes]
rs7115605	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7118982	0.82[ASN][1000 genomes]
rs7122560	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127171	0.86[EUR][1000 genomes]
rs7131383	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs725103	0.82[ASN][1000 genomes]
rs7342205	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73542998	0.86[EUR][1000 genomes]
rs7925573	0.86[EUR][1000 genomes]
rs7933754	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7936102	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7937066	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7944099	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7945596	0.86[EUR][1000 genomes]
rs7951174	0.96[ASN][1000 genomes]
rs7952686	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs876480	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs880317	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs947837	0.82[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	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73088400-73100200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr11:73088600-73100800	Enhancers	Placenta	Placenta
3	chr11:73089000-73099600	Enhancers	A549	lung
4	chr11:73089000-73100600	Enhancers	Fetal Muscle Leg	muscle
5	chr11:73089000-73101000	Enhancers	Brain Hippocampus Middle	brain
6	chr11:73090000-73101400	Enhancers	Adipose Nuclei	Adipose
7	chr11:73090600-73099600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:73091000-73104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:73091200-73100200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:73091400-73100200	Enhancers	Fetal Thymus	thymus
11	chr11:73091600-73101600	Enhancers	Fetal Muscle Trunk	muscle
12	chr11:73092000-73098600	Enhancers	Spleen	Spleen
13	chr11:73092400-73099600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:73092600-73099000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr11:73092600-73100800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:73092800-73098400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:73093000-73098600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:73093000-73099400	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:73093000-73099600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr11:73093200-73098600	Enhancers	Hela-S3	cervix
21	chr11:73093200-73099000	Enhancers	NHEK	skin
22	chr11:73093200-73099600	Enhancers	Thymus	Thymus
23	chr11:73093600-73099200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr11:73093600-73099800	Enhancers	Primary T cells from cord blood	blood
25	chr11:73093800-73098600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:73094000-73099200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr11:73094600-73098400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:73095000-73098400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:73095000-73099400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:73095000-73103400	Weak transcription	Gastric	stomach
31	chr11:73095200-73100000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:73095200-73116200	Weak transcription	Liver	Liver
33	chr11:73095400-73098400	Weak transcription	Right Atrium	heart
34	chr11:73095400-73103000	Weak transcription	NHLF	lung
35	chr11:73095600-73098400	Enhancers	Dnd41	blood
36	chr11:73095600-73099600	Weak transcription	Pancreas	Pancrea
37	chr11:73095800-73099000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:73095800-73099000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:73095800-73100000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:73095800-73100200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:73096000-73099200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:73096000-73099800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr11:73096000-73100400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:73096200-73098400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:73096200-73098800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:73096200-73099000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:73096200-73099600	Enhancers	Fetal Lung	lung
48	chr11:73096200-73101800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:73096400-73099000	Weak transcription	Esophagus	oesophagus

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