Variant report

Variant	rs2040333
Chromosome Location	chr11:75293639-75293640
allele	A/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	JUN	chr11:75293516-75294030	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:75293476-75295234	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:75293547-75295533	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr11:75293578-75295273	SK-N-SH	brain:	n/a	chr11:75294914-75294927
5	MAZ	chr11:75293573-75295763	IMR90	lung:	n/a	chr11:75294979-75294989 chr11:75294480-75294490
6	POLR2A	chr11:75293473-75295419	HUVEC	blood vessel:	n/a	n/a
7	GATA2	chr11:75293384-75293999	HUVEC	blood vessel:	n/a	chr11:75293576-75293584 chr11:75293675-75293689
8	POLR2A	chr11:75293472-75295476	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:75293217-75295285	IMR90	lung:	n/a	n/a
10	POLR2A	chr11:75293288-75295768	HUVEC	blood vessel:	n/a	n/a
11	FOS	chr11:75293427-75294445	HUVEC	blood vessel:	n/a	chr11:75294138-75294147 chr11:75293712-75293723
12	STAT3	chr11:75293570-75293914	MCF10A-Er-Src	breast:	n/a	chr11:75293588-75293600
13	STAT3	chr11:75293587-75293881	MCF10A-Er-Src	breast:	n/a	chr11:75293588-75293600
14	POLR2A	chr11:75293366-75295345	HUVEC	blood vessel:	n/a	n/a
15	PML	chr11:75293604-75294757	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75279889..75285292-chr11:75289695..75295814,8	K562	blood:

Variant related genes	Relation type
ENSG00000255326	TF binding region
ENSG00000149257	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1894210	0.83[ASN][1000 genomes]
rs60312531	0.83[ASN][1000 genomes]
rs61895093	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895094	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895095	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783396	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783403	1.00[EUR][1000 genomes];1.00[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	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
2	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75275200-75293800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:75282800-75293800	Weak transcription	A549	lung
3	chr11:75283200-75293800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:75284400-75293800	Weak transcription	Fetal Heart	heart
5	chr11:75284600-75294000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:75284800-75293800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:75284800-75293800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:75285000-75293800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:75285000-75294000	Weak transcription	Aorta	Aorta
10	chr11:75285000-75294000	Weak transcription	HMEC	breast
11	chr11:75285400-75293800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:75285600-75293800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:75285600-75293800	Weak transcription	HSMMtube	muscle
14	chr11:75285600-75294000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:75286000-75294000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:75287600-75293800	Weak transcription	HSMM	muscle
17	chr11:75287800-75294000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:75288000-75294000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:75288600-75293800	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:75289200-75293800	Weak transcription	Fetal Kidney	kidney
21	chr11:75291800-75294000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:75292600-75293800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr11:75292600-75293800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr11:75292600-75294000	Enhancers	Fetal Muscle Leg	muscle
25	chr11:75292800-75293800	Enhancers	Lung	lung
26	chr11:75293000-75293800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:75293200-75293800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr11:75293200-75293800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:75293200-75293800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:75293200-75293800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr11:75293200-75293800	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:75293200-75293800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:75293200-75293800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:75293200-75293800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr11:75293200-75293800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:75293200-75293800	Enhancers	Adipose Nuclei	Adipose
37	chr11:75293200-75293800	Enhancers	Colonic Mucosa	Colon
38	chr11:75293200-75293800	Enhancers	Placenta	Placenta
39	chr11:75293200-75294000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:75293200-75294000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:75293200-75294000	Enhancers	Left Ventricle	heart
42	chr11:75293200-75294000	Enhancers	Psoas Muscle	Psoas
43	chr11:75293200-75294000	Enhancers	Right Atrium	heart
44	chr11:75293200-75294000	Enhancers	Right Ventricle	heart
45	chr11:75293200-75294000	Enhancers	Spleen	Spleen
46	chr11:75293400-75293800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:75293400-75293800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:75293400-75293800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:75293400-75293800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:75293400-75293800	Enhancers	Primary monocytes fromperipheralblood	blood

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