Variant report

Variant	rs573246464
Chromosome Location	chr5:118488840-118488841
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118486635..118489506-chr5:118495369..118497251,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 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	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118450400-118496800	Weak transcription	Stomach Mucosa	stomach
3	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:118470000-118503200	Weak transcription	NH-A	brain
6	chr5:118472800-118504000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:118472800-118505000	Weak transcription	HepG2	liver
8	chr5:118473000-118497000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:118473400-118489200	Weak transcription	K562	blood
10	chr5:118473400-118496800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:118473800-118505000	Weak transcription	A549	lung
12	chr5:118478800-118491400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:118479000-118526000	Weak transcription	Fetal Brain Male	brain
14	chr5:118480000-118493000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:118480200-118490600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:118480600-118489800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:118481600-118492800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:118481800-118493200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:118482000-118491400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:118482000-118492400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:118482200-118491600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr5:118482400-118489000	Strong transcription	Placenta	Placenta
23	chr5:118482400-118490200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:118482400-118490600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:118482400-118491600	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:118482400-118491600	Strong transcription	Fetal Intestine Large	intestine
27	chr5:118482400-118492000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr5:118482600-118490800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:118482600-118491600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:118482600-118492000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:118483000-118541400	Weak transcription	NHEK	skin
32	chr5:118484000-118490000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:118484800-118506400	Weak transcription	Fetal Heart	heart
34	chr5:118485200-118503800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:118485400-118489000	Weak transcription	Fetal Kidney	kidney
36	chr5:118485400-118500200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:118485400-118506600	Weak transcription	HSMMtube	muscle
38	chr5:118485400-118522800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:118485600-118496800	Weak transcription	Gastric	stomach
40	chr5:118485600-118496800	Weak transcription	Spleen	Spleen
41	chr5:118485600-118500200	Weak transcription	HSMM	muscle
42	chr5:118485600-118515800	Weak transcription	Hela-S3	cervix
43	chr5:118485800-118489200	Weak transcription	Primary T cells from cord blood	blood
44	chr5:118485800-118489600	Weak transcription	Fetal Brain Female	brain
45	chr5:118485800-118489600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:118485800-118489800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr5:118485800-118490000	Weak transcription	Esophagus	oesophagus
48	chr5:118485800-118494200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:118485800-118496800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:118485800-118497400	Weak transcription	Primary T cells fromperipheralblood	blood

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