Variant report

Variant	rs73494869
Chromosome Location	chr11:75172706-75172707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:75172619-75172819	Hela-S3	cervix:	n/a	n/a
2	TCF12	chr11:75172066-75172777	ECC-1	luminal epithelium:	n/a	n/a
3	CTCF	chr11:75172693-75172733	GM10248	blood:	n/a	n/a
4	CTCF	chr11:75172600-75172750	GM12871	blood:	n/a	n/a
5	SMC3	chr11:75172649-75172810	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr11:75172690-75172861	K562	blood:	n/a	n/a
7	NFIC	chr11:75172107-75172718	ECC-1	luminal epithelium:	n/a	n/a
8	MXI1	chr11:75171667-75172972	SK-N-SH	brain:	n/a	n/a
9	EP300	chr11:75171808-75174602	ECC-1	luminal epithelium:	n/a	chr11:75174560-75174569
10	FOXM1	chr11:75172548-75173830	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:75172501..75175178-chr11:75216846..75218969,2	K562	blood:
2	chr11:75171275..75173319-chr11:75174538..75177396,2	K562	blood:
3	chr11:75166133..75169572-chr11:75169644..75173487,4	K562	blood:
4	chr11:75109689..75111968-chr11:75171052..75174187,3	K562	blood:

No data

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000206941	Chromatin interaction
ENSG00000158555	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11236443	1.00[EUR][1000 genomes]
rs17133983	1.00[EUR][1000 genomes]
rs58745525	1.00[EUR][1000 genomes]
rs59219139	1.00[EUR][1000 genomes]
rs7116757	1.00[EUR][1000 genomes]
rs73494841	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73494855	1.00[EUR][1000 genomes]
rs73494859	1.00[EUR][1000 genomes]
rs73494864	1.00[EUR][1000 genomes]
rs73494875	1.00[EUR][1000 genomes]
rs73494876	1.00[EUR][1000 genomes]
rs73494878	1.00[EUR][1000 genomes]
rs73494879	1.00[EUR][1000 genomes]
rs73494881	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73497013	1.00[EUR][1000 genomes]
rs7933166	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75144200-75186600	Weak transcription	Gastric	stomach
2	chr11:75144400-75179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:75144600-75174000	Weak transcription	Liver	Liver
4	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
5	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
6	chr11:75146400-75173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:75153800-75176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:75159000-75172800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:75160600-75173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:75161600-75176600	Weak transcription	Right Ventricle	heart
13	chr11:75162800-75185000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:75163800-75186200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:75164000-75174000	Weak transcription	Lung	lung
16	chr11:75165200-75187000	Strong transcription	HepG2	liver
17	chr11:75165400-75175400	Strong transcription	Fetal Intestine Large	intestine
18	chr11:75165800-75178000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:75166200-75176800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:75166400-75178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:75166600-75173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:75166600-75186800	Weak transcription	Pancreas	Pancrea
23	chr11:75166800-75174400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:75167400-75180400	Weak transcription	Aorta	Aorta
25	chr11:75168000-75173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:75168200-75172800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:75168200-75177200	Weak transcription	Fetal Stomach	stomach
28	chr11:75168400-75183400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr11:75168800-75173400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:75169200-75177400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:75171000-75173600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:75171000-75173600	Strong transcription	Adipose Nuclei	Adipose
33	chr11:75171600-75173000	Strong transcription	Placenta	Placenta
34	chr11:75171800-75173000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:75171800-75173000	Enhancers	NHDF-Ad	bronchial
36	chr11:75172000-75175200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:75172000-75184400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:75172200-75175800	Enhancers	Fetal Muscle Trunk	muscle
39	chr11:75172200-75176800	Weak transcription	Fetal Brain Female	brain
40	chr11:75172200-75184400	Enhancers	Spleen	Spleen
41	chr11:75172400-75175200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:75172400-75176200	Weak transcription	HSMMtube	muscle
43	chr11:75172400-75179400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:75172400-75183200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:75172600-75172800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:75172600-75172800	Genic enhancers	Fetal Muscle Leg	muscle
47	chr11:75172600-75173000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:75172600-75174200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:75172600-75174600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:75172600-75175000	Enhancers	HUES6 Cell Line	embryonic stem cell

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