Variant report

Variant	rs73549042
Chromosome Location	chr11:73945092-73945093
allele	A/G
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	SPI1	chr11:73944760-73945144	GM12878	blood:	n/a	n/a
2	RUNX3	chr11:73944769-73945114	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73942988..73945702-chr11:74054339..74056814,2	K562	blood:

Variant related genes	Relation type
PPME1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57002848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58542606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59043072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59076920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59864588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60041577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61377275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73885600-73957000	Weak transcription	Fetal Brain Male	brain
2	chr11:73907400-73969200	Weak transcription	HUVEC	blood vessel
3	chr11:73913600-73946800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:73913800-73961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:73915600-73960600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:73916000-73957000	Weak transcription	NHLF	lung
7	chr11:73921800-73949800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:73921800-73950200	Weak transcription	Fetal Kidney	kidney
9	chr11:73921800-73957200	Weak transcription	Pancreas	Pancrea
10	chr11:73921800-73962000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:73924600-73946400	Weak transcription	Right Ventricle	heart
12	chr11:73924800-73950200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:73924800-73959000	Weak transcription	Aorta	Aorta
14	chr11:73925000-73946200	Weak transcription	Gastric	stomach
15	chr11:73925400-73945400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:73926400-73959000	Weak transcription	Esophagus	oesophagus
17	chr11:73926400-73961800	Weak transcription	Fetal Intestine Small	intestine
18	chr11:73936000-73968000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:73936200-73966600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:73936400-73967000	Strong transcription	HSMM	muscle
21	chr11:73936400-73967600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:73937400-73961800	Weak transcription	Spleen	Spleen
23	chr11:73937800-73953000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:73938400-73957000	Weak transcription	Psoas Muscle	Psoas
25	chr11:73938800-73967400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:73939600-73945400	Strong transcription	A549	lung
27	chr11:73939800-73948200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:73940200-73948800	Weak transcription	Fetal Heart	heart
29	chr11:73940200-73950400	Weak transcription	Ovary	ovary
30	chr11:73940600-73952800	Strong transcription	HSMMtube	muscle
31	chr11:73941000-73950600	Strong transcription	HMEC	breast
32	chr11:73941000-73952800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:73941000-73952800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:73941000-73952800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr11:73941000-73952800	Strong transcription	HepG2	liver
36	chr11:73941000-73953400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:73941000-73953600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:73941000-73967600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:73941000-73967800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:73941200-73947400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:73941200-73952600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr11:73941800-73945600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr11:73942000-73946400	Weak transcription	Fetal Brain Female	brain
44	chr11:73942200-73962000	Weak transcription	Colonic Mucosa	Colon
45	chr11:73942400-73945200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:73942400-73945200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:73942400-73945400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr11:73942400-73945800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:73942400-73946000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:73942400-73946200	Weak transcription	Lung	lung

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