Variant report

Variant	rs62088910
Chromosome Location	chr18:9615145-9615146
allele	A/G
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	POLR2A	chr18:9614663-9615333	GM12892	blood:	n/a	n/a
2	POLR2A	chr18:9614806-9615182	HepG2	liver:	n/a	n/a
3	CBX3	chr18:9615013-9615553	K562	blood:	n/a	n/a
4	MAX	chr18:9614778-9615433	K562	blood:	n/a	n/a
5	MAX	chr18:9614700-9615634	HCT-116	colon:	n/a	chr18:9615546-9615554
6	NR2F2	chr18:9614730-9615347	MCF-7	breast:	n/a	n/a
7	POLR2A	chr18:9613851-9615329	GM18526	blood:	n/a	n/a
8	SMC3	chr18:9615124-9615448	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr18:9614656-9615748	PFSK-1	brain:	n/a	n/a
10	REST	chr18:9614917-9615698	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr18:9614927-9616339	U87	brain:	n/a	n/a
12	POLR2A	chr18:9613796-9615286	K562	blood:	n/a	n/a
13	SMARCB1	chr18:9613668-9615396	Hela-S3	cervix:	n/a	n/a
14	YY1	chr18:9614696-9615311	SK-N-SH_RA	brain:	n/a	chr18:9614956-9614978 chr18:9615096-9615107 chr18:9614955-9614967
15	JUND	chr18:9615091-9615337	K562	blood:	n/a	chr18:9615220-9615234
16	E2F6	chr18:9614441-9615424	K562	blood:	n/a	chr18:9614442-9614452 chr18:9614739-9614750 chr18:9614834-9614843 chr18:9614846-9614856
17	POLR2A	chr18:9613682-9615417	ProgFib	skin:	n/a	n/a
18	POLR2A	chr18:9613810-9615336	GM18951	blood:	n/a	n/a
19	MXI1	chr18:9613968-9615279	HepG2	liver:	n/a	n/a
20	TAF1	chr18:9614895-9615467	H1-neurons	neurons:	n/a	n/a
21	TBP	chr18:9613926-9615389	H1-hESC	embryonic stem cell:	n/a	n/a
22	UBTF	chr18:9614737-9615248	K562	blood:	n/a	n/a
23	TAF1	chr18:9614751-9615191	SK-N-SH	brain:	n/a	n/a
24	RCOR1	chr18:9615012-9615352	Hela-S3	cervix:	n/a	n/a
25	YY1	chr18:9614679-9615406	HepG2	liver:	n/a	chr18:9614956-9614978 chr18:9615096-9615107 chr18:9614955-9614967
26	MAX	chr18:9614618-9615586	A549	lung:	n/a	chr18:9615546-9615554
27	POLR2A	chr18:9613461-9615883	HUVEC	blood vessel:	n/a	n/a
28	E2F6	chr18:9614859-9615441	A549	lung:	n/a	n/a
29	MAZ	chr18:9613545-9615746	K562	blood:	n/a	chr18:9614492-9614502 chr18:9615546-9615554
30	POLR2A	chr18:9613835-9615686	K562	blood:	n/a	n/a
31	POLR2A	chr18:9613980-9615432	H1-neurons	neurons:	n/a	n/a
32	YY1	chr18:9614787-9615364	ECC-1	luminal epithelium:	n/a	chr18:9614956-9614978 chr18:9615096-9615107 chr18:9614955-9614967
33	POLR2A	chr18:9614351-9615415	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr18:9611932-9615928	SK-N-SH	brain:	n/a	n/a
35	SIN3AK20	chr18:9614922-9615373	SK-N-SH	brain:	n/a	n/a
36	ZBTB7A	chr18:9614675-9615209	K562	blood:	n/a	n/a
37	ZEB1	chr18:9614928-9615219	GM12878	blood:	n/a	n/a
38	EBF1	chr18:9615090-9615354	GM12878	blood:	n/a	n/a
39	ZBTB7A	chr18:9613566-9615236	ECC-1	luminal epithelium:	n/a	chr18:9614483-9614494
40	RCOR1	chr18:9614744-9615235	HepG2	liver:	n/a	n/a
41	POLR2A	chr18:9613738-9615413	GM19099	blood:	n/a	n/a
42	POLR2A	chr18:9614676-9615543	HUVEC	blood vessel:	n/a	n/a
43	TAF1	chr18:9614664-9615187	HepG2	liver:	n/a	n/a
44	GTF2F1	chr18:9615127-9615408	Hela-S3	cervix:	n/a	n/a
45	HEY1	chr18:9614679-9615848	K562	blood:	n/a	n/a
46	POLR2A	chr18:9614661-9615450	GM12892	blood:	n/a	n/a
47	MAZ	chr18:9613689-9615350	Hela-S3	cervix:	n/a	chr18:9614492-9614502
48	MXI1	chr18:9615029-9615333	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr18:9613542-9615772	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr18:9614799-9615317	ECC-1	luminal epithelium:	n/a	chr18:9614956-9614978 chr18:9615096-9615107 chr18:9614955-9614967

No.	Distal block	Cell Line	Cell type
1	chr18:9612136..9615353-chr18:9912435..9915971,5	MCF-7	breast:
2	chr18:9594858..9597558-chr18:9614248..9616397,2	MCF-7	breast:
3	chr18:9614922..9615897-chrX:48815132..48816087,2	Hela-S3	cervix:
4	chr18:9614482..9616420-chr18:9617986..9621274,5	K562	blood:
5	chr18:9612893..9615735-chr18:9913834..9918265,4	K562	blood:
6	chr18:9613570..9616156-chr18:9878427..9881071,2	K562	blood:
7	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:
8	chr18:9614449..9616140-chr18:9677968..9679576,2	K562	blood:
9	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
10	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
11	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
12	chr17:57970172..57971882-chr18:9614484..9616129,2	MCF-7	breast:
13	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
14	chr18:9584254..9588034-chr18:9613364..9615601,3	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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALBP1-2	chr18:9614694-9615333	NONHSAT057230

Variant related genes	Relation type
ENSG00000263627	TF binding region
PPP4R1	TF binding region
ENSG00000108443	Chromatin interaction
ENSG00000264644	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000212572	Chromatin interaction
ENSG00000266541	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000068308	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000265564	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs61746389	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61749090	0.90[EUR][1000 genomes]
rs61749091	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62080294	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62080298	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62080299	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62080302	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62080303	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62080304	0.85[AMR][1000 genomes]
rs62080305	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62088866	0.86[AMR][1000 genomes]
rs62088867	0.95[AMR][1000 genomes]
rs62088869	0.95[AMR][1000 genomes]
rs62088874	0.95[AMR][1000 genomes]
rs62088882	0.95[AMR][1000 genomes]
rs62088909	0.95[AMR][1000 genomes]
rs62088911	0.88[EUR][1000 genomes]
rs62088912	0.86[EUR][1000 genomes]
rs62088913	0.86[EUR][1000 genomes]
rs62088914	0.86[EUR][1000 genomes]
rs62088915	0.90[EUR][1000 genomes]
rs62088917	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62088918	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7236182	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv3375382	chr18:9612977-9615525	Active TSS Weak transcription Enhancers Flanking Active TSS 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	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
6	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
7	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
8	esv3356263	chr18:9614152-9615550	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
9	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
10	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9612200-9615200	Active TSS	NHLF	lung
2	chr18:9612400-9615200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr18:9612400-9615200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:9612400-9615200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:9612400-9615400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:9612400-9615800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:9612600-9615200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:9612600-9615200	Active TSS	HMEC	breast
9	chr18:9612600-9615400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr18:9612600-9615400	Active TSS	Ovary	ovary
11	chr18:9612600-9615600	Active TSS	Right Ventricle	heart
12	chr18:9612600-9615800	Active TSS	Aorta	Aorta
13	chr18:9612800-9615200	Active TSS	Fetal Muscle Leg	muscle
14	chr18:9612800-9615200	Active TSS	HSMM	muscle
15	chr18:9612800-9615200	Active TSS	HSMMtube	muscle
16	chr18:9612800-9615200	Active TSS	NHDF-Ad	bronchial
17	chr18:9612800-9615400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr18:9612800-9615400	Active TSS	A549	lung
19	chr18:9612800-9615600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr18:9613000-9615200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr18:9613000-9615200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:9613000-9615200	Active TSS	Fetal Stomach	stomach
23	chr18:9613000-9615400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr18:9613000-9615600	Active TSS	Fetal Brain Female	brain
25	chr18:9613200-9615200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:9613200-9615200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr18:9613200-9615200	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr18:9613200-9615200	Active TSS	Brain Cingulate Gyrus	brain
29	chr18:9613200-9615200	Active TSS	Brain Hippocampus Middle	brain
30	chr18:9613200-9615200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:9613200-9615200	Active TSS	Brain Substantia Nigra	brain
32	chr18:9613200-9615200	Active TSS	Colonic Mucosa	Colon
33	chr18:9613200-9615200	Active TSS	Fetal Intestine Small	intestine
34	chr18:9613200-9615200	Active TSS	Placenta	Placenta
35	chr18:9613200-9615200	Active TSS	Fetal Thymus	thymus
36	chr18:9613200-9615200	Active TSS	Stomach Smooth Muscle	stomach
37	chr18:9613200-9615200	Active TSS	NHEK	skin
38	chr18:9613200-9615400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:9613200-9615400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr18:9613200-9615400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:9613200-9615400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr18:9613200-9615400	Active TSS	Colon Smooth Muscle	Colon
43	chr18:9613200-9615400	Active TSS	Fetal Intestine Large	intestine
44	chr18:9613200-9615600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr18:9613400-9615200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr18:9613400-9615200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr18:9613400-9615200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:9613400-9615200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr18:9613400-9615200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr18:9613400-9615200	Active TSS	Brain Germinal Matrix	brain

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