Variant report

Variant	rs8084615
Chromosome Location	chr18:29520188-29520189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29518719..29521005-chr18:29521192..29525426,5	MCF-7	breast:
2	chr18:29483369..29487458-chr18:29519948..29522209,3	K562	blood:
3	chr18:29485958..29488048-chr18:29520164..29521790,2	K562	blood:
4	chr18:29517111..29520943-chr18:29521139..29523956,5	MCF-7	breast:
5	chr18:29494660..29496304-chr18:29519916..29522258,2	K562	blood:

Variant related genes	Relation type
ENSG00000263823	Chromatin interaction
ENSG00000153339	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs28420519	1.00[EUR][1000 genomes]
rs28473031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28504474	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28524484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28760310	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59908498	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235871	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7244322	0.91[EUR][1000 genomes]
rs73411516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084534	0.81[EUR][1000 genomes]
rs8085869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8086361	0.91[EUR][1000 genomes]
rs8098568	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304106	1.00[EUR][1000 genomes]
rs9948663	1.00[EUR][1000 genomes]
rs9949329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952486	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9954954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9956632	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9963080	1.00[EUR][1000 genomes]
rs9965666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
2	chr18:29478600-29522000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:29482400-29522000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:29482600-29521600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:29482800-29521600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:29484400-29520800	Weak transcription	Fetal Brain Female	brain
7	chr18:29484800-29521000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr18:29493000-29521600	Weak transcription	Aorta	Aorta
9	chr18:29493400-29521600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:29496600-29521400	Weak transcription	NHEK	skin
11	chr18:29500600-29521400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:29505200-29521800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:29506800-29521600	Weak transcription	A549	lung
14	chr18:29508800-29520400	Weak transcription	Brain Germinal Matrix	brain
15	chr18:29509200-29520800	Weak transcription	Fetal Lung	lung
16	chr18:29509400-29521000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr18:29509600-29520800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:29509600-29520800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr18:29509600-29522000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr18:29509600-29522000	Weak transcription	Lung	lung
21	chr18:29510000-29520800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr18:29510200-29521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:29511200-29521600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr18:29511400-29521000	Weak transcription	Placenta	Placenta
25	chr18:29511400-29521200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:29511600-29521400	Weak transcription	NHLF	lung
27	chr18:29511800-29520800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:29511800-29520800	Weak transcription	Colon Smooth Muscle	Colon
29	chr18:29511800-29521000	Weak transcription	NH-A	brain
30	chr18:29511800-29521400	Weak transcription	Fetal Kidney	kidney
31	chr18:29511800-29521400	Weak transcription	HSMM	muscle
32	chr18:29511800-29521400	Weak transcription	NHDF-Ad	bronchial
33	chr18:29512000-29520400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr18:29512000-29520800	Weak transcription	Brain Substantia Nigra	brain
35	chr18:29512000-29521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr18:29512000-29521000	Weak transcription	HUVEC	blood vessel
37	chr18:29512200-29521000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:29512200-29521000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr18:29512200-29521600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr18:29512200-29521600	Weak transcription	Brain Angular Gyrus	brain
41	chr18:29512200-29521600	Weak transcription	Brain Anterior Caudate	brain
42	chr18:29512400-29522000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:29512600-29520800	Weak transcription	Osteobl	bone
44	chr18:29512600-29521000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr18:29512800-29521400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr18:29513800-29521000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr18:29513800-29521400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr18:29514400-29520800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr18:29514600-29520600	Weak transcription	Primary B cells from cord blood	blood
50	chr18:29516400-29520800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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