Variant report

Variant	rs1378528
Chromosome Location	chr18:9709481-9709482
allele	G/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr13:115046438..115047075-chr18:9708777..9709560,2	Hela-S3	cervix:
5	chr18:9708193..9711687-chr18:9848141..9849749,3	MCF-7	breast:
6	chr17:5389456..5392290-chr18:9708331..9710791,2	MCF-7	breast:
7	chr18:9708291..9709989-chr18:9914009..9915970,2	K562	blood:
8	chr18:9679137..9682962-chr18:9706802..9710430,4	K562	blood:
9	chr18:9708382..9711324-chr18:9721162..9722931,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167842	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000072849	Chromatin interaction
ENSG00000263627	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000169062	Chromatin interaction
ENSG00000264644	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12608203	0.87[ASN][1000 genomes]
rs1378527	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1869736	0.85[ASN][1000 genomes]
rs62078920	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6506684	0.86[JPT][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1378528	RAB31	Cis_1M	lymphoblastoid	RTeQTL
rs1378528	RAB31	cis	lymphoblastoid	seeQTL
rs1378528	RAB31	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 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	chr18:9707400-9709800	Active TSS	Aorta	Aorta
3	chr18:9707400-9709800	Active TSS	Brain Angular Gyrus	brain
4	chr18:9707400-9709800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:9707400-9709800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr18:9707400-9709800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr18:9707400-9710000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:9707400-9710200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr18:9707600-9709600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:9707600-9709600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr18:9707600-9709600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:9707600-9709600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:9707600-9709600	Active TSS	Brain Hippocampus Middle	brain
14	chr18:9707600-9709600	Active TSS	Left Ventricle	heart
15	chr18:9707600-9709600	Active TSS	Lung	lung
16	chr18:9707600-9709800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr18:9707600-9709800	Active TSS	Right Atrium	heart
18	chr18:9707600-9710000	Active TSS	Ovary	ovary
19	chr18:9707600-9710000	Active TSS	HSMM	muscle
20	chr18:9707600-9710000	Active TSS	HSMMtube	muscle
21	chr18:9707600-9710200	Active TSS	Brain Anterior Caudate	brain
22	chr18:9707800-9709600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr18:9707800-9709600	Bivalent/Poised TSS	Colonic Mucosa	Colon
24	chr18:9707800-9709600	Active TSS	Psoas Muscle	Psoas
25	chr18:9707800-9709600	Active TSS	Rectal Smooth Muscle	rectum
26	chr18:9707800-9709800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:9707800-9709800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:9707800-9709800	Active TSS	Brain Cingulate Gyrus	brain
29	chr18:9707800-9709800	Active TSS	Gastric	stomach
30	chr18:9707800-9709800	Active TSS	NHDF-Ad	bronchial
31	chr18:9707800-9709800	Active TSS	NHLF	lung
32	chr18:9707800-9710000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr18:9707800-9710000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
34	chr18:9707800-9710200	Active TSS	Esophagus	oesophagus
35	chr18:9708000-9709600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr18:9708000-9709600	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr18:9708000-9709600	Active TSS	Hela-S3	cervix
38	chr18:9708000-9709600	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr18:9708000-9709800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:9708000-9710000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:9708400-9709600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
42	chr18:9708400-9709800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
43	chr18:9708400-9709800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr18:9708600-9709600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
45	chr18:9708800-9709600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
46	chr18:9708800-9710000	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr18:9708800-9711000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr18:9709000-9709600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr18:9709000-9709800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
50	chr18:9709000-9709800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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