Variant report

Variant	rs73222001
Chromosome Location	chr5:112238585-112238586
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112238408..112240377-chr5:112318483..112320645,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17135168	1.00[EUR][1000 genomes]
rs1801166	1.00[EUR][1000 genomes]
rs34506289	1.00[EUR][1000 genomes]
rs34950096	1.00[EUR][1000 genomes]
rs4987110	1.00[EUR][1000 genomes]
rs55662611	1.00[EUR][1000 genomes]
rs57954089	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73789244	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1029595	chr5:112197662-112242375	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
3	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:112215800-112240400	Strong transcription	Primary B cells from cord blood	blood
11	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:112222800-112239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:112223000-112240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:112223000-112243000	Weak transcription	Right Ventricle	heart
17	chr5:112223000-112245200	Weak transcription	Colonic Mucosa	Colon
18	chr5:112223000-112245200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:112223000-112256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
21	chr5:112224600-112238800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:112224800-112242400	Weak transcription	Right Atrium	heart
23	chr5:112224800-112250600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:112225000-112251600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:112225600-112238600	Strong transcription	Fetal Stomach	stomach
26	chr5:112226400-112238800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:112226800-112239000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:112227200-112239000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:112227400-112239200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:112227600-112238600	Strong transcription	Dnd41	blood
31	chr5:112227600-112238800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:112227600-112240200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:112227600-112240200	Strong transcription	Primary T cells from cord blood	blood
34	chr5:112228600-112238600	Strong transcription	Placenta	Placenta
35	chr5:112228600-112242400	Weak transcription	Spleen	Spleen
36	chr5:112229200-112238600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:112229600-112241400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:112229600-112250000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:112229600-112256600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:112230200-112251600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:112231200-112240000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:112231400-112238600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:112231600-112239000	Strong transcription	HSMM	muscle
44	chr5:112231600-112239200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:112232000-112238600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:112232000-112242800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:112232200-112242200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:112232200-112242200	Weak transcription	HepG2	liver
49	chr5:112232600-112242800	Weak transcription	Pancreas	Pancrea
50	chr5:112232600-112250200	Weak transcription	Stomach Mucosa	stomach

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