Variant report

Variant	rs34735184
Chromosome Location	chr18:9735000-9735001
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	chr18:9733101..9737818-chr18:9912631..9916013,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272799	Chromatin interaction
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12457728	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2045233	0.83[AMR][1000 genomes]
rs62078924	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6506685	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7230946	0.81[EUR][1000 genomes]
rs8087451	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs921837	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34735184	RAB31	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9720000-9737400	Weak transcription	Brain Anterior Caudate	brain
2	chr18:9720000-9742000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr18:9720800-9737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9721000-9741600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:9721200-9737200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:9721800-9737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:9724000-9737200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr18:9725000-9737600	Weak transcription	Brain Hippocampus Middle	brain
9	chr18:9731400-9737200	Weak transcription	HSMM	muscle
10	chr18:9731600-9736400	Weak transcription	HMEC	breast
11	chr18:9732000-9735800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:9732000-9736000	Strong transcription	Fetal Stomach	stomach
13	chr18:9732000-9736200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:9732000-9736600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr18:9732000-9737000	Weak transcription	NH-A	brain
16	chr18:9732200-9736200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:9732200-9736400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:9732200-9736400	Weak transcription	NHDF-Ad	bronchial
19	chr18:9732600-9741600	Weak transcription	Ovary	ovary
20	chr18:9732800-9736200	Enhancers	Fetal Thymus	thymus
21	chr18:9732800-9740800	Weak transcription	Adipose Nuclei	Adipose
22	chr18:9732800-9741600	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:9733000-9736000	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr18:9733000-9742000	Weak transcription	Aorta	Aorta
25	chr18:9733000-9743600	Weak transcription	Gastric	stomach
26	chr18:9733200-9735000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr18:9733200-9737200	Weak transcription	Brain Substantia Nigra	brain
28	chr18:9733400-9735600	Enhancers	Fetal Intestine Large	intestine
29	chr18:9733400-9735800	Genic enhancers	Fetal Intestine Small	intestine
30	chr18:9733400-9736200	Enhancers	Primary B cells from cord blood	blood
31	chr18:9733400-9736800	Weak transcription	Osteobl	bone
32	chr18:9733600-9735000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr18:9733600-9735000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:9733600-9735000	Enhancers	Placenta	Placenta
35	chr18:9733600-9735600	Enhancers	Duodenum Mucosa	Duodenum
36	chr18:9733600-9735600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr18:9733600-9735600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr18:9733600-9735800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr18:9733600-9736800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:9733600-9737000	Weak transcription	Right Ventricle	heart
41	chr18:9733800-9735000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr18:9733800-9735400	Weak transcription	Fetal Muscle Leg	muscle
43	chr18:9733800-9735800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr18:9733800-9736000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr18:9733800-9737200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:9733800-9737200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:9733800-9737200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr18:9733800-9737200	Weak transcription	HSMMtube	muscle
49	chr18:9733800-9742000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr18:9734000-9735000	Enhancers	Small Intestine	intestine

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