Variant report

Variant	rs59332342
Chromosome Location	chr18:43861497-43861498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:43860873..43861670-chr18:44086912..44087413,2	MCF-7	breast:
2	chr18:43861216..43862102-chr18:44135707..44136294,2	MCF-7	breast:
3	chr18:43861183..43862185-chr18:44237910..44238891,3	MCF-7	breast:
4	chr18:43861203..43861852-chr18:44060771..44061710,3	MCF-7	breast:
5	chr18:43861250..43861755-chr18:44237903..44238816,2	K562	blood:
6	chr18:43860875..43861657-chr18:43949065..43949579,2	MCF-7	breast:
7	chr18:43861090..43861977-chr18:44098125..44099110,4	MCF-7	breast:
8	chr18:43861045..43861799-chr18:43870971..43871561,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167210	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs3744857	0.91[ASN][1000 genomes]
rs58195962	0.91[ASN][1000 genomes]
rs58510983	0.91[ASN][1000 genomes]
rs58733901	0.91[ASN][1000 genomes]
rs59343315	0.91[ASN][1000 genomes]
rs59640392	0.85[ASN][1000 genomes]
rs59898569	0.91[ASN][1000 genomes]
rs59904633	0.91[ASN][1000 genomes]
rs59915699	0.91[ASN][1000 genomes]
rs60048649	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60510203	0.91[ASN][1000 genomes]
rs60902296	0.87[ASN][1000 genomes]
rs7229101	0.87[ASN][1000 genomes]
rs7229594	0.87[ASN][1000 genomes]
rs7229605	0.87[ASN][1000 genomes]
rs7239202	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7244399	0.91[ASN][1000 genomes]
rs73425133	1.00[EUR][1000 genomes]
rs73425152	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73425154	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73425163	0.91[ASN][1000 genomes]
rs73425165	0.91[ASN][1000 genomes]
rs73425173	0.91[ASN][1000 genomes]
rs73956290	0.93[ASN][1000 genomes]
rs9954145	0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064031	chr18:43782309-43878806	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43831400-43863200	Weak transcription	Fetal Intestine Small	intestine
2	chr18:43841000-43864200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr18:43842200-43869800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr18:43845600-43863000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr18:43845600-43863600	Weak transcription	Brain Anterior Caudate	brain
6	chr18:43847200-43863200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr18:43852200-43879000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr18:43853000-43877800	Weak transcription	Primary T cells from cord blood	blood
9	chr18:43854400-43863000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:43854400-43863200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:43854400-43863200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:43854600-43863000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:43855400-43863200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:43855600-43863000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:43857000-43877800	Weak transcription	Aorta	Aorta
16	chr18:43858200-43863000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:43858400-43863200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:43858800-43862800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:43858800-43863000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr18:43858800-43863000	Weak transcription	Psoas Muscle	Psoas
21	chr18:43859000-43861600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr18:43859000-43863200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr18:43859000-43863200	Weak transcription	Spleen	Spleen
24	chr18:43859000-43863400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr18:43859200-43861600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:43859200-43863000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:43859200-43863000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:43859200-43869400	Weak transcription	Left Ventricle	heart
29	chr18:43859400-43862600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:43859400-43863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:43859600-43861600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:43859800-43862600	Weak transcription	Fetal Muscle Leg	muscle
33	chr18:43860400-43873000	Weak transcription	Fetal Heart	heart
34	chr18:43860800-43861800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:43861200-43861600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr18:43861200-43861800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr18:43861400-43861600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:43861400-43861600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr18:43861400-43861600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr18:43861400-43861600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr18:43861400-43861600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:43861400-43861600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr18:43861400-43861600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr18:43861400-43861600	Enhancers	NH-A	brain
45	chr18:43861400-43861600	Enhancers	NHDF-Ad	bronchial
46	chr18:43861400-43861800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr18:43861400-43861800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr18:43861400-43861800	Enhancers	Osteobl	bone
49	chr18:43861400-43862400	Enhancers	Liver	Liver
50	chr18:43861400-43863800	Enhancers	K562	blood

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