Variant report

Variant	rs62087373
Chromosome Location	chr18:9514979-9514980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9134663..9137425-chr18:9513984..9516086,2	MCF-7	breast:
2	chr18:9480776..9482836-chr18:9514325..9515970,2	MCF-7	breast:
3	chr18:9475865..9478404-chr18:9513684..9515667,2	MCF-7	breast:
4	chr18:9481576..9484213-chr18:9511203..9515144,3	K562	blood:
5	chr18:9334277..9336266-chr18:9514400..9517200,2	MCF-7	breast:
6	chr18:9473700..9477318-chr18:9511807..9515644,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264964	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000273335	Chromatin interaction
ENSG00000128791	Chromatin interaction
ENSG00000101745	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16955192	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28778582	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3322	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62086112	0.82[EUR][1000 genomes]
rs62086113	0.81[EUR][1000 genomes]
rs62086116	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62086122	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62086123	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62086125	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086148	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086149	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086150	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086153	0.97[EUR][1000 genomes]
rs62086157	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087360	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62087361	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087362	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087369	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087374	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087376	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087397	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087408	0.97[EUR][1000 genomes]
rs62087409	0.97[EUR][1000 genomes]
rs62087410	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62087413	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7227801	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9949213	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9952325	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9955578	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9957720	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking 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	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62087373	RALBP1	cis	Whole Blood	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
2	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
3	chr18:9479000-9533600	Weak transcription	Gastric	stomach
4	chr18:9495000-9518000	Weak transcription	Liver	Liver
5	chr18:9495000-9518000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr18:9495200-9530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr18:9495200-9533600	Weak transcription	Right Ventricle	heart
8	chr18:9495400-9524000	Weak transcription	Spleen	Spleen
9	chr18:9495400-9534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr18:9495800-9517000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr18:9496800-9534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr18:9497400-9532600	Weak transcription	Colonic Mucosa	Colon
13	chr18:9497600-9517200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr18:9498400-9523200	Weak transcription	Esophagus	oesophagus
15	chr18:9499400-9525000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:9500800-9535000	Weak transcription	Fetal Heart	heart
17	chr18:9502200-9519800	Weak transcription	Brain Angular Gyrus	brain
18	chr18:9503000-9517200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr18:9503800-9517400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr18:9504000-9515200	Weak transcription	Brain Hippocampus Middle	brain
21	chr18:9505200-9524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:9506200-9517200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:9506400-9522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr18:9506800-9517000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr18:9506800-9517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr18:9506800-9517200	Weak transcription	Brain Anterior Caudate	brain
27	chr18:9506800-9517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr18:9506800-9518000	Weak transcription	Brain Substantia Nigra	brain
29	chr18:9506800-9518000	Weak transcription	Left Ventricle	heart
30	chr18:9506800-9532000	Weak transcription	Pancreas	Pancrea
31	chr18:9507200-9522000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr18:9507600-9517200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr18:9507800-9515400	Weak transcription	Fetal Kidney	kidney
34	chr18:9508000-9522400	Weak transcription	Lung	lung
35	chr18:9508000-9522600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr18:9508000-9531600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr18:9508400-9522400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr18:9508400-9522400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr18:9508600-9518000	Weak transcription	GM12878-XiMat	blood
40	chr18:9508600-9521800	Weak transcription	Ovary	ovary
41	chr18:9508600-9522000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr18:9508600-9525200	Weak transcription	Brain Germinal Matrix	brain
43	chr18:9508600-9531800	Weak transcription	Small Intestine	intestine
44	chr18:9509000-9516000	Weak transcription	K562	blood
45	chr18:9509000-9522200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr18:9509400-9516400	Weak transcription	Colon Smooth Muscle	Colon
47	chr18:9510800-9522200	Weak transcription	Fetal Lung	lung
48	chr18:9511200-9516600	Weak transcription	Placenta	Placenta
49	chr18:9512000-9521800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr18:9512200-9524600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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