Variant report

Variant	rs62088911
Chromosome Location	chr18:9615667-9615668
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:9614656-9615748	PFSK-1	brain:	n/a	n/a
2	REST	chr18:9614917-9615698	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr18:9614927-9616339	U87	brain:	n/a	n/a
4	POLR2A	chr18:9613461-9615883	HUVEC	blood vessel:	n/a	n/a
5	MAZ	chr18:9613545-9615746	K562	blood:	n/a	chr18:9614492-9614502 chr18:9615546-9615554
6	POLR2A	chr18:9613835-9615686	K562	blood:	n/a	n/a
7	MXI1	chr18:9611932-9615928	SK-N-SH	brain:	n/a	n/a
8	HEY1	chr18:9614679-9615848	K562	blood:	n/a	n/a
9	POLR2A	chr18:9613542-9615772	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr18:9613361-9615682	IMR90	lung:	n/a	n/a
11	TEAD4	chr18:9615015-9615773	K562	blood:	n/a	n/a
12	POLR2A	chr18:9612160-9616803	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr18:9615663-9615681	HUVEC	blood vessel:	n/a	n/a
14	RCOR1	chr18:9615622-9615862	K562	blood:	n/a	n/a
15	MAFF	chr18:9615655-9615800	K562	blood:	n/a	n/a
16	POLR2A	chr18:9614332-9615735	K562	blood:	n/a	n/a
17	POLR2A	chr18:9613069-9615751	Hela-S3	cervix:	n/a	n/a
18	YY1	chr18:9615511-9615768	A549	lung:	n/a	chr18:9615653-9615669
19	REST	chr18:9613304-9615719	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr18:9613811-9615738	Raji	blood:	n/a	n/a
21	POLR2A	chr18:9614815-9616269	PBDE	blood:	n/a	n/a
22	YY1	chr18:9614765-9615790	H1-hESC	embryonic stem cell:	n/a	chr18:9615653-9615669 chr18:9614956-9614978 chr18:9615096-9615107 chr18:9614955-9614967
23	YY1	chr18:9615509-9615804	K562	blood:	n/a	chr18:9615653-9615669
24	POLR2A	chr18:9614668-9615810	Hela-S3	cervix:	n/a	n/a
25	GATA1	chr18:9615396-9617194	PBDE	blood:	n/a	n/a
26	HA-E2F1	chr18:9614778-9615715	MCF-7	breast:	n/a	chr18:9614834-9614843 chr18:9614846-9614856
27	POLR2A	chr18:9614650-9615825	PANC-1	pancreas:	n/a	n/a
28	ZC3H11A	chr18:9615622-9615817	K562	blood:	n/a	n/a
29	MAX	chr18:9614647-9615804	K562	blood:	n/a	chr18:9615546-9615554
30	POLR2A	chr18:9612107-9616277	MCF10A-Er-Src	breast:	n/a	n/a
31	MAZ	chr18:9613571-9615725	IMR90	lung:	n/a	chr18:9614492-9614502 chr18:9615546-9615554

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9594858..9597558-chr18:9614248..9616397,2	MCF-7	breast:
2	chr18:9614922..9615897-chrX:48815132..48816087,2	Hela-S3	cervix:
3	chr18:9614482..9616420-chr18:9617986..9621274,5	K562	blood:
4	chr18:9612893..9615735-chr18:9913834..9918265,4	K562	blood:
5	chr18:9613570..9616156-chr18:9878427..9881071,2	K562	blood:
6	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:
7	chr18:9614449..9616140-chr18:9677968..9679576,2	K562	blood:
8	chr18:9615287..9617165-chr18:9631128..9633561,2	K562	blood:
9	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
10	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
11	chr18:9615576..9617257-chr18:9706860..9708949,2	K562	blood:
12	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
13	chr17:57970172..57971882-chr18:9614484..9616129,2	MCF-7	breast:
14	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
15	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
16	chr18:9474922..9476536-chr18:9613527..9616238,2	MCF-7	breast:
17	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
18	chr18:9613016..9616228-chr18:9911513..9913644,4	K562	blood:
19	chr18:9615456..9617526-chr18:9895448..9898198,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALBP1-2	chr18:9615186-9616194	NONHSAT057231

No data

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000068308	Chromatin interaction
ENSG00000265564	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000264644	Chromatin interaction
ENSG00000212572	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs61746389	0.97[EUR][1000 genomes]
rs61749090	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61749091	0.97[EUR][1000 genomes]
rs62080294	0.90[EUR][1000 genomes]
rs62080298	0.93[EUR][1000 genomes]
rs62080299	0.93[EUR][1000 genomes]
rs62080302	0.93[EUR][1000 genomes]
rs62080303	0.93[EUR][1000 genomes]
rs62080304	0.86[EUR][1000 genomes]
rs62080305	0.87[EUR][1000 genomes]
rs62088866	0.81[EUR][1000 genomes]
rs62088867	0.81[EUR][1000 genomes]
rs62088869	0.81[EUR][1000 genomes]
rs62088882	0.83[EUR][1000 genomes]
rs62088909	0.83[EUR][1000 genomes]
rs62088910	0.88[EUR][1000 genomes]
rs62088912	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62088913	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62088914	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62088915	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62088917	0.94[EUR][1000 genomes]
rs62088918	0.97[EUR][1000 genomes]
rs7236182	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv3497207	chr18:9613177-9616150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
5	esv3497209	chr18:9613177-9616150	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
6	esv3389407	chr18:9613377-9615925	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
7	esv1820504	chr18:9614250-9621841	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv1801741	chr18:9614451-9621841	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9612400-9615800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:9612600-9615800	Active TSS	Aorta	Aorta
3	chr18:9613600-9615800	Active TSS	Fetal Kidney	kidney
4	chr18:9613800-9615800	Active TSS	Primary T cells from cord blood	blood
5	chr18:9614800-9615800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:9615000-9615800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr18:9615000-9615800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr18:9615000-9615800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:9615000-9615800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr18:9615000-9615800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:9615000-9616000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:9615000-9616000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr18:9615000-9616200	Flanking Active TSS	K562	blood
14	chr18:9615200-9615800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr18:9615200-9615800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:9615200-9615800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr18:9615200-9615800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:9615200-9615800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr18:9615200-9615800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:9615200-9615800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr18:9615200-9615800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:9615200-9615800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:9615200-9615800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr18:9615200-9615800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr18:9615200-9615800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:9615200-9615800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr18:9615200-9615800	Flanking Active TSS	Liver	Liver
28	chr18:9615200-9615800	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr18:9615200-9615800	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr18:9615200-9615800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr18:9615200-9615800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr18:9615200-9615800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr18:9615200-9615800	Flanking Active TSS	Fetal Lung	lung
34	chr18:9615200-9615800	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr18:9615200-9615800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr18:9615200-9615800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr18:9615200-9615800	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr18:9615200-9615800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr18:9615200-9615800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr18:9615200-9615800	Flanking Active TSS	Dnd41	blood
41	chr18:9615200-9615800	Flanking Active TSS	Hela-S3	cervix
42	chr18:9615200-9615800	Flanking Active TSS	HepG2	liver
43	chr18:9615200-9615800	Flanking Active TSS	HSMM	muscle
44	chr18:9615200-9615800	Flanking Active TSS	HSMMtube	muscle
45	chr18:9615200-9615800	Flanking Active TSS	HUVEC	blood vessel
46	chr18:9615200-9615800	Flanking Active TSS	NH-A	brain
47	chr18:9615200-9615800	Flanking Active TSS	NHDF-Ad	bronchial
48	chr18:9615200-9615800	Flanking Active TSS	NHEK	skin
49	chr18:9615200-9615800	Flanking Active TSS	NHLF	lung
50	chr18:9615200-9615800	Flanking Active TSS	Osteobl	bone

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