Variant report

Variant	rs73330616
Chromosome Location	chr5:178155166-178155167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178154802..178159439-chr5:178284936..178288781,7	MCF-7	breast:
2	chr5:178152146..178155385-chr5:178293103..178294784,3	MCF-7	breast:
3	chr5:178154460..178156007-chr5:178156141..178157886,2	MCF-7	breast:
4	chr5:178152814..178155589-chr5:178155933..178157780,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169131	Chromatin interaction
ENSG00000178338	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57297200	1.00[AMR][1000 genomes]
rs58865807	1.00[AMR][1000 genomes]
rs59830249	1.00[AMR][1000 genomes]
rs60727421	1.00[AMR][1000 genomes]
rs73340771	1.00[AMR][1000 genomes]
rs73351808	1.00[AMR][1000 genomes]
rs73351811	1.00[AMR][1000 genomes]
rs7734633	1.00[AMR][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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv883217	chr5:178099758-178193081	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1031206	chr5:178149292-178283614	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537973	chr5:178149292-178283614	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:178135800-178155600	ZNF genes & repeats	Liver	Liver
2	chr5:178136200-178155200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr5:178138400-178155600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:178138800-178155600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:178140600-178156600	Weak transcription	Hela-S3	cervix
6	chr5:178140800-178156000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr5:178141000-178155200	ZNF genes & repeats	Lung	lung
8	chr5:178141800-178155600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:178142800-178155600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:178144600-178155600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:178145400-178155400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:178147600-178155200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:178147800-178155400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:178148000-178155400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr5:178148000-178155600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:178148000-178155600	Strong transcription	Right Ventricle	heart
17	chr5:178148400-178156600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:178148800-178155600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:178149200-178156400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:178149400-178155400	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:178149400-178156600	Weak transcription	Stomach Mucosa	stomach
22	chr5:178149400-178164400	Weak transcription	Fetal Heart	heart
23	chr5:178149600-178155200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:178149600-178155200	Strong transcription	Brain Cingulate Gyrus	brain
25	chr5:178149600-178156400	Weak transcription	HSMM	muscle
26	chr5:178149800-178155400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:178149800-178155400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:178149800-178157000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:178150000-178156800	Weak transcription	HUVEC	blood vessel
30	chr5:178150400-178155200	Strong transcription	Placenta	Placenta
31	chr5:178150400-178155400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:178150400-178156600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:178150600-178155200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:178150600-178155200	Strong transcription	Brain Anterior Caudate	brain
35	chr5:178150600-178155400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:178150600-178156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:178150600-178156600	Weak transcription	NHLF	lung
38	chr5:178150800-178156800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:178151000-178155400	Strong transcription	Brain Substantia Nigra	brain
40	chr5:178151200-178155600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:178151400-178155200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr5:178151400-178155400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:178151400-178155400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:178151400-178155400	ZNF genes & repeats	Fetal Brain Female	brain
45	chr5:178151400-178155400	Strong transcription	Fetal Muscle Leg	muscle
46	chr5:178151400-178155400	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:178151400-178155600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:178151600-178155200	Strong transcription	Aorta	Aorta
49	chr5:178152000-178155200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:178152000-178155400	ZNF genes & repeats	Primary B cells from cord blood	blood

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