Variant report

Variant	rs62086116
Chromosome Location	chr18:9477498-9477499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr18:9477312-9477747	K562	blood:	n/a	chr18:9477464-9477474

No.	Distal block	Cell Line	Cell type
1	chr18:9474528..9476990-chr18:9477133..9478956,2	K562	blood:
2	chr18:9476151..9478353-chr18:9485460..9487930,2	MCF-7	breast:
3	chr18:9135476..9138567-chr18:9475319..9477627,4	K562	blood:
4	chr18:9471240..9474381-chr18:9476825..9479081,3	K562	blood:
5	chr18:9331992..9337338-chr18:9472584..9477624,6	MCF-7	breast:

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

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs16955192	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28778582	0.86[EUR][1000 genomes]
rs3322	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62086074	0.83[EUR][1000 genomes]
rs62086075	0.83[EUR][1000 genomes]
rs62086078	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62086079	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62086080	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62086098	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62086099	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62086100	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62086101	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62086104	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62086106	0.91[EUR][1000 genomes]
rs62086107	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62086109	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62086112	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086113	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62086122	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62086123	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62086125	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62086126	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62086148	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086149	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086150	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086153	0.87[EUR][1000 genomes]
rs62086157	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62087360	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62087361	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62087362	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62087366	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62087369	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62087373	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62087374	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62087376	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62087379	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62087397	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62087408	0.87[EUR][1000 genomes]
rs62087409	0.87[EUR][1000 genomes]
rs62087410	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62087413	0.91[AMR][1000 genomes]
rs7227801	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7233885	0.83[EUR][1000 genomes]
rs7235785	0.82[EUR][1000 genomes]
rs9949213	0.86[EUR][1000 genomes]
rs9952325	0.86[EUR][1000 genomes]
rs9955578	0.86[EUR][1000 genomes]
rs9957720	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62086116	RALBP1	cis	Whole Blood	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9476000-9478000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr18:9476000-9478000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr18:9476400-9478400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:9476600-9477800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr18:9476600-9477800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr18:9476600-9478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:9476600-9478400	Weak transcription	Aorta	Aorta
8	chr18:9476600-9478400	Weak transcription	Gastric	stomach
9	chr18:9476600-9478400	Weak transcription	Lung	lung
10	chr18:9476600-9481800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:9476600-9481800	Weak transcription	Pancreas	Pancrea
12	chr18:9476600-9484200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:9476800-9477600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr18:9476800-9477600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr18:9476800-9477600	Enhancers	Liver	Liver
16	chr18:9476800-9477600	Enhancers	Brain Cingulate Gyrus	brain
17	chr18:9476800-9477600	Enhancers	Fetal Brain Male	brain
18	chr18:9476800-9477600	Enhancers	Rectal Smooth Muscle	rectum
19	chr18:9476800-9477800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr18:9476800-9477800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr18:9476800-9477800	Enhancers	Colon Smooth Muscle	Colon
22	chr18:9476800-9477800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr18:9476800-9477800	Enhancers	Fetal Lung	lung
24	chr18:9476800-9477800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr18:9476800-9477800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr18:9476800-9478000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr18:9476800-9478000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr18:9476800-9478000	Enhancers	Duodenum Mucosa	Duodenum
29	chr18:9476800-9478000	Enhancers	Fetal Heart	heart
30	chr18:9476800-9478000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr18:9476800-9478200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr18:9476800-9478400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr18:9476800-9478400	Weak transcription	Colonic Mucosa	Colon
34	chr18:9476800-9478400	Weak transcription	Ovary	ovary
35	chr18:9476800-9478600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr18:9476800-9479600	Weak transcription	HSMMtube	muscle
37	chr18:9476800-9480400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:9476800-9481200	Weak transcription	Right Atrium	heart
39	chr18:9476800-9482400	Weak transcription	Brain Anterior Caudate	brain
40	chr18:9476800-9494000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr18:9476800-9496000	Weak transcription	Stomach Mucosa	stomach
42	chr18:9477000-9477600	Enhancers	Primary B cells from cord blood	blood
43	chr18:9477000-9477600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr18:9477000-9477600	Enhancers	Fetal Muscle Leg	muscle
45	chr18:9477000-9477600	Enhancers	HepG2	liver
46	chr18:9477000-9477800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:9477000-9477800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:9477000-9477800	Enhancers	Brain Angular Gyrus	brain
49	chr18:9477000-9477800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr18:9477000-9477800	Flanking Active TSS	K562	blood

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