Variant report

Variant	rs55748182
Chromosome Location	chr18:13428754-13428755
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	chr18:13423888..13431259-chr18:13537755..13547044,34	MCF-7	breast:
2	chr18:13215623..13223602-chr18:13421388..13431077,26	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267239	Chromatin interaction
ENSG00000168675	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11663519	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11663520	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663559	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2042743	0.87[EUR][1000 genomes]
rs9959699	0.86[EUR][1000 genomes]
rs9960108	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv909411	chr18:13425604-13493554	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13417200-13439400	Weak transcription	Fetal Stomach	stomach
2	chr18:13417200-13447200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr18:13418400-13432000	Weak transcription	Pancreas	Pancrea
4	chr18:13418400-13452200	Weak transcription	Colonic Mucosa	Colon
5	chr18:13421600-13435800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr18:13421600-13435800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr18:13421600-13437200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr18:13421600-13446600	Weak transcription	Gastric	stomach
9	chr18:13422400-13434400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr18:13423000-13432200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr18:13424200-13429200	Enhancers	Brain Anterior Caudate	brain
12	chr18:13424600-13429200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr18:13425000-13436800	Weak transcription	Fetal Brain Female	brain
14	chr18:13425600-13429200	Enhancers	Left Ventricle	heart
15	chr18:13425800-13435400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:13425800-13445200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr18:13426000-13429200	Enhancers	Right Ventricle	heart
18	chr18:13426000-13432600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr18:13426000-13433200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:13426200-13429200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr18:13426200-13430400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:13426200-13439600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:13426200-13446200	Weak transcription	Esophagus	oesophagus
24	chr18:13426400-13429200	Enhancers	Right Atrium	heart
25	chr18:13426400-13434800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr18:13426600-13435000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr18:13426600-13439600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr18:13426600-13443800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr18:13426800-13429600	Weak transcription	Primary T cells from cord blood	blood
30	chr18:13426800-13432400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr18:13426800-13433800	Weak transcription	Dnd41	blood
32	chr18:13426800-13435400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr18:13427400-13429200	Enhancers	Brain Substantia Nigra	brain
34	chr18:13427400-13429200	Enhancers	Lung	lung
35	chr18:13427400-13441200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr18:13427400-13447600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr18:13427600-13435000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr18:13427600-13446600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:13427800-13434000	Weak transcription	Liver	Liver
40	chr18:13428000-13428800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr18:13428200-13430200	Enhancers	Fetal Thymus	thymus
42	chr18:13428200-13431000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:13428200-13431000	Genic enhancers	Thymus	Thymus
44	chr18:13428400-13428800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr18:13428400-13429000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr18:13428400-13437800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:13428400-13446600	Weak transcription	Brain Angular Gyrus	brain
48	chr18:13428400-13448000	Weak transcription	Psoas Muscle	Psoas
49	chr18:13428600-13429000	Enhancers	Fetal Heart	heart
50	chr18:13428600-13430800	Weak transcription	H1 Cell Line	embryonic stem cell

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