Variant report

Variant	rs34383319
Chromosome Location	chr18:45552994-45552995
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45550473..45553185-chr18:45556657..45558338,2	K562	blood:
2	chr18:45550473..45554043-chr18:45555888..45558338,3	K562	blood:
3	chr18:45550183..45552921-chr18:45552993..45555401,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55766008	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57787629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230700	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7231151	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73445982	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8088785	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1066479	chr18:45505569-45554507	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1055669	chr18:45513090-45559375	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv274948	chr18:45552290-45557862	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45547200-45555600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr18:45547800-45553200	Enhancers	Adipose Nuclei	Adipose
3	chr18:45548000-45553600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr18:45548000-45554000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:45548600-45553600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr18:45549000-45553400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr18:45549200-45553800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:45549200-45554000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr18:45549200-45556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:45549200-45557600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:45549600-45553200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr18:45550400-45553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:45550400-45553600	Weak transcription	Fetal Heart	heart
14	chr18:45550400-45553800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:45550400-45553800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr18:45550400-45553800	Weak transcription	Right Atrium	heart
17	chr18:45550400-45553800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:45550400-45554000	Weak transcription	Right Ventricle	heart
19	chr18:45550400-45556400	Weak transcription	Fetal Intestine Small	intestine
20	chr18:45550400-45563400	Weak transcription	Stomach Mucosa	stomach
21	chr18:45550600-45553200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:45550600-45553400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:45550600-45553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr18:45550600-45553600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:45550600-45553600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:45550600-45553600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr18:45550600-45553800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:45550600-45553800	Weak transcription	Brain Substantia Nigra	brain
29	chr18:45550600-45554000	Weak transcription	Fetal Kidney	kidney
30	chr18:45550600-45564000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr18:45550800-45553600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr18:45550800-45553600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr18:45550800-45553800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:45550800-45553800	Weak transcription	Placenta	Placenta
35	chr18:45550800-45553800	Weak transcription	Left Ventricle	heart
36	chr18:45550800-45553800	Weak transcription	Ovary	ovary
37	chr18:45550800-45554000	Weak transcription	Brain Hippocampus Middle	brain
38	chr18:45550800-45555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr18:45550800-45557800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr18:45550800-45559600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:45550800-45560200	Weak transcription	Gastric	stomach
42	chr18:45550800-45563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:45551000-45553200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr18:45551000-45553200	Weak transcription	Fetal Muscle Leg	muscle
45	chr18:45551000-45553600	Weak transcription	HMEC	breast
46	chr18:45551000-45553800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr18:45551000-45553800	Weak transcription	A549	lung
48	chr18:45551000-45554800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:45551000-45554800	Weak transcription	NHEK	skin
50	chr18:45551200-45554400	Weak transcription	Rectal Mucosa Donor 29	rectum

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