Variant report

Variant	rs62078920
Chromosome Location	chr18:9708582-9708583
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
2	chr18:9708489..9711784-chr18:9913301..9917117,3	K562	blood:
3	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
4	chr18:9708193..9711687-chr18:9848141..9849749,3	MCF-7	breast:
5	chr17:5389456..5392290-chr18:9708331..9710791,2	MCF-7	breast:
6	chr18:9708291..9709989-chr18:9914009..9915970,2	K562	blood:
7	chr18:9679137..9682962-chr18:9706802..9710430,4	K562	blood:
8	chr18:9708123..9708943-chr5:131826290..131826801,2	Hela-S3	cervix:
9	chr18:9708382..9711324-chr18:9721162..9722931,2	MCF-7	breast:
10	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263627	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000167842	Chromatin interaction
ENSG00000072849	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000125347	Chromatin interaction
ENSG00000264644	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12608203	0.85[ASN][1000 genomes]
rs1378527	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1378528	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1869736	0.85[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62078920	RAB31	cis	multi-tissue	Pritchard
rs62078920	RAB31	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9707200-9709600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr18:9707400-9709000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
3	chr18:9707400-9709000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
4	chr18:9707400-9709400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr18:9707400-9709400	Active TSS	Brain Substantia Nigra	brain
6	chr18:9707400-9709400	Active TSS	Colon Smooth Muscle	Colon
7	chr18:9707400-9709400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr18:9707400-9709800	Active TSS	Aorta	Aorta
9	chr18:9707400-9709800	Active TSS	Brain Angular Gyrus	brain
10	chr18:9707400-9709800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr18:9707400-9709800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr18:9707400-9709800	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr18:9707400-9710000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:9707400-9710200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr18:9707600-9708600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:9707600-9709000	Active TSS	Right Ventricle	heart
17	chr18:9707600-9709200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
18	chr18:9707600-9709400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:9707600-9709400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:9707600-9709400	Active TSS	Fetal Kidney	kidney
21	chr18:9707600-9709400	Active TSS	Placenta Amnion	Placenta Amnion
22	chr18:9707600-9709400	Active TSS	Stomach Smooth Muscle	stomach
23	chr18:9707600-9709600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:9707600-9709600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr18:9707600-9709600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:9707600-9709600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr18:9707600-9709600	Active TSS	Brain Hippocampus Middle	brain
28	chr18:9707600-9709600	Active TSS	Left Ventricle	heart
29	chr18:9707600-9709600	Active TSS	Lung	lung
30	chr18:9707600-9709800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr18:9707600-9709800	Active TSS	Right Atrium	heart
32	chr18:9707600-9710000	Active TSS	Ovary	ovary
33	chr18:9707600-9710000	Active TSS	HSMM	muscle
34	chr18:9707600-9710000	Active TSS	HSMMtube	muscle
35	chr18:9707600-9710200	Active TSS	Brain Anterior Caudate	brain
36	chr18:9707800-9708600	Bivalent/Poised TSS	Thymus	Thymus
37	chr18:9707800-9708800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr18:9707800-9708800	Enhancers	Fetal Brain Male	brain
39	chr18:9707800-9708800	Active TSS	Fetal Stomach	stomach
40	chr18:9707800-9709000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:9707800-9709000	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr18:9707800-9709200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:9707800-9709200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr18:9707800-9709200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr18:9707800-9709400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr18:9707800-9709400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:9707800-9709400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr18:9707800-9709400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr18:9707800-9709400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr18:9707800-9709400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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