Variant report

Variant	rs73495408
Chromosome Location	chr11:76235441-76235442
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:76235275-76236463	MCF10A-Er-Src	breast:	n/a	chr11:76236101-76236109
2	GATA3	chr11:76235317-76235999	SK-N-SH	brain:	n/a	n/a
3	FOSL1	chr11:76235413-76236423	HCT-116	colon:	n/a	chr11:76236101-76236109
4	NR2F2	chr11:76234914-76235569	HepG2	liver:	n/a	n/a
5	FOXA1	chr11:76234960-76235499	HepG2	liver:	n/a	n/a
6	FOXA2	chr11:76234870-76235637	HepG2	liver:	n/a	n/a
7	FOXA2	chr11:76235013-76235451	HepG2	liver:	n/a	n/a
8	FOSL2	chr11:76235384-76235922	SK-N-SH	brain:	n/a	n/a
9	CEBPB	chr11:76235095-76235501	HepG2	liver:	n/a	chr11:76235413-76235426
10	ARID3A	chr11:76235073-76235758	HepG2	liver:	n/a	n/a
11	CEBPB	chr11:76235137-76235462	HepG2	liver:	n/a	chr11:76235413-76235426
12	HDAC2	chr11:76235021-76235447	HepG2	liver:	n/a	n/a
13	FOXA1	chr11:76234978-76235451	HepG2	liver:	n/a	n/a
14	EP300	chr11:76234983-76235502	HepG2	liver:	n/a	n/a
15	EP300	chr11:76235016-76235486	HepG2	liver:	n/a	n/a
16	FOXA1	chr11:76234926-76235535	HepG2	liver:	n/a	n/a
17	GATA3	chr11:76235414-76236026	SK-N-SH	brain:	n/a	n/a
18	FOXA1	chr11:76234995-76235518	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76234875..76236984-chr11:76240108..76241970,2	K562	blood:
2	chr11:76231800..76233964-chr11:76234838..76236911,2	MCF-7	breast:

Variant related genes	Relation type
C11orf30	TF binding region

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs59388706	0.90[AFR][1000 genomes]
rs73493421	0.81[AFR][1000 genomes]
rs73493425	0.81[AFR][1000 genomes]
rs73493426	0.81[AFR][1000 genomes]
rs73493432	0.81[AFR][1000 genomes]
rs73493433	0.81[AFR][1000 genomes]
rs73493458	0.90[AFR][1000 genomes]
rs73493461	0.90[AFR][1000 genomes]
rs73493462	0.90[AFR][1000 genomes]
rs73493465	0.90[AFR][1000 genomes]
rs73493468	0.90[AFR][1000 genomes]
rs73493471	0.90[AFR][1000 genomes]
rs73493478	0.90[AFR][1000 genomes]
rs73493480	0.90[AFR][1000 genomes]
rs73493487	0.90[AFR][1000 genomes]
rs73493493	0.90[AFR][1000 genomes]
rs73493495	0.90[AFR][1000 genomes]
rs73493496	0.90[AFR][1000 genomes]
rs73493497	0.90[AFR][1000 genomes]
rs73495404	0.90[AFR][1000 genomes]
rs73495406	1.00[AFR][1000 genomes]
rs73495410	0.90[AFR][1000 genomes]
rs73495413	0.90[AFR][1000 genomes]
rs73495414	0.90[AFR][1000 genomes]
rs73495416	0.90[AFR][1000 genomes]
rs73495417	0.90[AFR][1000 genomes]
rs73495419	0.90[AFR][1000 genomes]
rs73495421	0.90[AFR][1000 genomes]
rs73495423	0.90[AFR][1000 genomes]
rs73495426	0.90[AFR][1000 genomes]
rs73495428	0.90[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76191400-76239000	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:76192800-76242800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:76205200-76235800	Weak transcription	NHLF	lung
4	chr11:76205200-76254400	Weak transcription	Aorta	Aorta
5	chr11:76205400-76235800	Weak transcription	Lung	lung
6	chr11:76205400-76240000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:76205400-76254600	Weak transcription	Right Ventricle	heart
8	chr11:76205400-76255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:76205600-76239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:76205800-76235800	Weak transcription	Esophagus	oesophagus
11	chr11:76206000-76249200	Weak transcription	Colonic Mucosa	Colon
12	chr11:76207400-76239400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:76207400-76240000	Weak transcription	Brain Substantia Nigra	brain
14	chr11:76207400-76254400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:76207600-76239400	Weak transcription	Brain Angular Gyrus	brain
16	chr11:76213000-76237200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:76213000-76254200	Weak transcription	Fetal Heart	heart
18	chr11:76220000-76255600	Weak transcription	Small Intestine	intestine
19	chr11:76221800-76235600	Weak transcription	Gastric	stomach
20	chr11:76221800-76235800	Weak transcription	Pancreas	Pancrea
21	chr11:76222200-76252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:76222600-76249200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:76224200-76239000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:76224200-76254600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:76224400-76236000	Weak transcription	Spleen	Spleen
26	chr11:76224400-76262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:76224400-76263800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:76224800-76251200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:76225400-76253200	Weak transcription	HSMMtube	muscle
30	chr11:76227000-76236000	Weak transcription	A549	lung
31	chr11:76229000-76235600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:76229000-76239800	Weak transcription	HUVEC	blood vessel
33	chr11:76229600-76238200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:76230000-76265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:76232200-76236000	Weak transcription	NHDF-Ad	bronchial
36	chr11:76232400-76236400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:76232400-76239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:76232600-76235600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:76232800-76245000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:76233000-76249200	Weak transcription	Fetal Stomach	stomach
41	chr11:76233600-76236400	Enhancers	HepG2	liver
42	chr11:76233600-76251000	Strong transcription	Primary B cells from cord blood	blood
43	chr11:76233600-76258800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:76233800-76236000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr11:76233800-76236200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:76233800-76238600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:76233800-76258600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:76233800-76260200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:76233800-76262000	Strong transcription	Placenta	Placenta
50	chr11:76233800-76262400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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