Variant report

Variant	rs73338149
Chromosome Location	chr5:179138230-179138231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179126141..179128178-chr5:179137860..179139518,2	MCF-7	breast:
2	chr5:179136832..179138458-chr5:179152703..179155030,2	K562	blood:

Variant related genes	Relation type
ENSG00000127022	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58743252	1.00[AFR][1000 genomes]
rs73342159	1.00[AFR][1000 genomes]
rs73342183	1.00[AFR][1000 genomes]
rs73347977	0.90[AFR][1000 genomes]
rs73349918	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 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	chr5:179127800-179152000	Strong transcription	NHEK	skin
2	chr5:179127800-179156400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:179127800-179156600	Strong transcription	Fetal Stomach	stomach
4	chr5:179127800-179158200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:179128200-179156400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:179128400-179143200	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:179128400-179157800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:179128400-179157800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:179128400-179158200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:179128400-179159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:179128600-179150400	Weak transcription	Stomach Mucosa	stomach
12	chr5:179128600-179158200	Strong transcription	Fetal Muscle Leg	muscle
13	chr5:179129000-179158200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:179129200-179146800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:179129200-179157600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr5:179129400-179141400	Strong transcription	Hela-S3	cervix
17	chr5:179129400-179143200	Weak transcription	Fetal Brain Male	brain
18	chr5:179129400-179152600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:179129400-179158200	Strong transcription	Fetal Thymus	thymus
20	chr5:179129600-179157400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:179129800-179143000	Weak transcription	Fetal Heart	heart
22	chr5:179129800-179158200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:179129800-179158200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:179129800-179158200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:179129800-179158200	Strong transcription	Fetal Intestine Large	intestine
26	chr5:179129800-179158800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:179130200-179138600	Strong transcription	Fetal Lung	lung
28	chr5:179130400-179158200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:179130600-179157000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:179130600-179157600	Strong transcription	HUVEC	blood vessel
31	chr5:179130800-179156400	Strong transcription	Liver	Liver
32	chr5:179130800-179158200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr5:179130800-179158200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:179130800-179159800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:179131000-179143600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:179131000-179143600	Strong transcription	Fetal Intestine Small	intestine
37	chr5:179131000-179157600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr5:179131000-179157800	Strong transcription	Dnd41	blood
39	chr5:179131000-179158200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:179131200-179138600	Strong transcription	Left Ventricle	heart
41	chr5:179131200-179145000	Strong transcription	Osteobl	bone
42	chr5:179131200-179154200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:179131200-179158000	Strong transcription	Placenta	Placenta
44	chr5:179132000-179138400	Strong transcription	GM12878-XiMat	blood
45	chr5:179132000-179158200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr5:179132200-179138600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr5:179132200-179152200	Strong transcription	HSMM	muscle
48	chr5:179132200-179152600	Strong transcription	NH-A	brain
49	chr5:179132400-179138400	Strong transcription	K562	blood
50	chr5:179132400-179140800	Strong transcription	Primary hematopoietic stem cells	blood

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