Variant report

Variant	rs61238329
Chromosome Location	chr18:45552261-45552262
allele	C/T
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: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11872548	1.00[AMR][1000 genomes]
rs11875051	1.00[AMR][1000 genomes]
rs11875783	1.00[AMR][1000 genomes]
rs11877848	1.00[AMR][1000 genomes]
rs12968971	1.00[AMR][1000 genomes]
rs12969668	1.00[AMR][1000 genomes]
rs28455633	1.00[AMR][1000 genomes]
rs28465195	1.00[AMR][1000 genomes]
rs28576508	1.00[AMR][1000 genomes]
rs28622478	1.00[AMR][1000 genomes]
rs28683114	1.00[AMR][1000 genomes]
rs28769310	1.00[AMR][1000 genomes]
rs6507788	1.00[AMR][1000 genomes]
rs7228619	1.00[AMR][1000 genomes]
rs7233149	1.00[AMR][1000 genomes]
rs7235743	1.00[AMR][1000 genomes]
rs7240327	1.00[AMR][1000 genomes]
rs73953631	1.00[AMR][1000 genomes]
rs73953632	1.00[AMR][1000 genomes]
rs73953633	1.00[AMR][1000 genomes]
rs8083042	1.00[AMR][1000 genomes]
rs8084338	1.00[AMR][1000 genomes]
rs8085805	1.00[AMR][1000 genomes]
rs8085921	1.00[AMR][1000 genomes]
rs8087218	1.00[AMR][1000 genomes]
rs8096366	1.00[AMR][1000 genomes]
rs8098860	1.00[AMR][1000 genomes]
rs9947095	1.00[AMR][1000 genomes]
rs9947712	1.00[AMR][1000 genomes]
rs9951883	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9952115	1.00[AMR][1000 genomes]
rs9952878	1.00[AMR][1000 genomes]
rs9952992	1.00[AMR][1000 genomes]
rs9957678	1.00[AMR][1000 genomes]
rs9958863	1.00[AMR][1000 genomes]
rs9965552	1.00[AMR][1000 genomes]
rs9965717	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:59 , 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	chr18:45550200-45552800	Weak transcription	HSMMtube	muscle
13	chr18:45550400-45553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:45550400-45553600	Weak transcription	Fetal Heart	heart
15	chr18:45550400-45553800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr18:45550400-45553800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:45550400-45553800	Weak transcription	Right Atrium	heart
18	chr18:45550400-45553800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr18:45550400-45554000	Weak transcription	Right Ventricle	heart
20	chr18:45550400-45556400	Weak transcription	Fetal Intestine Small	intestine
21	chr18:45550400-45563400	Weak transcription	Stomach Mucosa	stomach
22	chr18:45550600-45553200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:45550600-45553400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:45550600-45553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr18:45550600-45553600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:45550600-45553600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:45550600-45553600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:45550600-45553800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:45550600-45553800	Weak transcription	Brain Substantia Nigra	brain
30	chr18:45550600-45554000	Weak transcription	Fetal Kidney	kidney
31	chr18:45550600-45564000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:45550800-45552800	Weak transcription	Fetal Lung	lung
33	chr18:45550800-45553600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr18:45550800-45553600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr18:45550800-45553800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:45550800-45553800	Weak transcription	Placenta	Placenta
37	chr18:45550800-45553800	Weak transcription	Left Ventricle	heart
38	chr18:45550800-45553800	Weak transcription	Ovary	ovary
39	chr18:45550800-45554000	Weak transcription	Brain Hippocampus Middle	brain
40	chr18:45550800-45555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr18:45550800-45557800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr18:45550800-45559600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr18:45550800-45560200	Weak transcription	Gastric	stomach
44	chr18:45550800-45563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr18:45551000-45553200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr18:45551000-45553200	Weak transcription	Fetal Muscle Leg	muscle
47	chr18:45551000-45553600	Weak transcription	HMEC	breast
48	chr18:45551000-45553800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr18:45551000-45553800	Weak transcription	A549	lung
50	chr18:45551000-45554800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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