Variant report

Variant	rs368991458
Chromosome Location	chr18:9614298-9614299
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	YY1	chr18:9613674-9614644	HepG2	liver:	n/a	chr18:9614500-9614511 chr18:9614439-9614453 chr18:9614474-9614486 chr18:9614444-9614453 chr18:9614442-9614456
2	CTCF	chr18:9614160-9614310	AoAF	blood vessel:	n/a	n/a
3	POLR2A	chr18:9613851-9615329	GM18526	blood:	n/a	n/a
4	MAX	chr18:9613825-9614321	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr18:9613765-9614312	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr18:9614217-9614608	SK-N-SH_RA	brain:	n/a	chr18:9614500-9614511 chr18:9614439-9614453 chr18:9614474-9614486 chr18:9614444-9614453 chr18:9614442-9614456
7	POLR2A	chr18:9613876-9614305	A549	lung:	n/a	n/a
8	POLR2A	chr18:9613796-9615286	K562	blood:	n/a	n/a
9	SMARCB1	chr18:9613668-9615396	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr18:9613682-9615417	ProgFib	skin:	n/a	n/a
11	POLR2A	chr18:9613810-9615336	GM18951	blood:	n/a	n/a
12	MXI1	chr18:9613968-9615279	HepG2	liver:	n/a	n/a
13	TBP	chr18:9613926-9615389	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr18:9613724-9614321	K562	blood:	n/a	n/a
15	POLR2A	chr18:9613461-9615883	HUVEC	blood vessel:	n/a	n/a
16	TCF12	chr18:9613759-9614312	ECC-1	luminal epithelium:	n/a	n/a
17	MAZ	chr18:9613545-9615746	K562	blood:	n/a	chr18:9614492-9614502 chr18:9615546-9615554
18	POLR2A	chr18:9613991-9614303	A549	lung:	n/a	n/a
19	POLR2A	chr18:9613835-9615686	K562	blood:	n/a	n/a
20	POLR2A	chr18:9613980-9615432	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr18:9613825-9614615	HUVEC	blood vessel:	n/a	n/a
22	MXI1	chr18:9611932-9615928	SK-N-SH	brain:	n/a	n/a
23	ZBTB7A	chr18:9613566-9615236	ECC-1	luminal epithelium:	n/a	chr18:9614483-9614494
24	TAF7	chr18:9613951-9614341	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr18:9613738-9615413	GM19099	blood:	n/a	n/a
26	YY1	chr18:9614017-9614687	ECC-1	luminal epithelium:	n/a	chr18:9614500-9614511 chr18:9614439-9614453 chr18:9614474-9614486 chr18:9614444-9614453 chr18:9614442-9614456
27	RAD21	chr18:9613875-9614331	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAZ	chr18:9613689-9615350	Hela-S3	cervix:	n/a	chr18:9614492-9614502
29	POLR2A	chr18:9613542-9615772	H1-hESC	embryonic stem cell:	n/a	n/a
30	HCFC1	chr18:9613818-9614485	K562	blood:	n/a	n/a
31	MXI1	chr18:9613361-9615682	IMR90	lung:	n/a	n/a
32	POLR2A	chr18:9613751-9614323	K562	blood:	n/a	n/a
33	CCNT2	chr18:9613769-9615322	K562	blood:	n/a	chr18:9615058-9615067 chr18:9615031-9615040
34	MYC	chr18:9613854-9614544	K562	blood:	n/a	chr18:9614492-9614502
35	POLR2A	chr18:9613599-9615472	K562	blood:	n/a	n/a
36	POLR2A	chr18:9613713-9615392	MCF-7	breast:	n/a	n/a
37	MAX	chr18:9613657-9614365	MCF-7	breast:	n/a	n/a
38	POLR2A	chr18:9613695-9615374	HUVEC	blood vessel:	n/a	n/a
39	ELF1	chr18:9613597-9614604	GM12878	blood:	n/a	chr18:9614444-9614453 chr18:9613941-9613953
40	CTCF	chr18:9614160-9614310	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr18:9613662-9614337	K562	blood:	n/a	n/a
42	POLR2A	chr18:9612160-9616803	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr18:9613932-9615216	HepG2	liver:	n/a	n/a
44	BCLAF1	chr18:9613533-9614307	GM12878	blood:	n/a	chr18:9613942-9613955
45	POLR2A	chr18:9613787-9615278	GM12878	blood:	n/a	n/a
46	CHD2	chr18:9613860-9614298	HepG2	liver:	n/a	n/a
47	POLR2A	chr18:9613666-9615312	Gliobla	brain:	n/a	n/a
48	HA-E2F1	chr18:9613781-9615424	Hela-S3	cervix:	n/a	chr18:9614442-9614452 chr18:9614041-9614055 chr18:9614834-9614843 chr18:9614846-9614856
49	SIN3A	chr18:9613404-9614426	H1-hESC	embryonic stem cell:	n/a	chr18:9614415-9614426
50	POLR2A	chr18:9613722-9615373	HUVEC	blood vessel:	n/a	n/a

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	chr18:9612893..9615735-chr18:9913834..9918265,4	K562	blood:
4	chr18:9613570..9616156-chr18:9878427..9881071,2	K562	blood:
5	chr15:66994774..66995660-chr18:9613961..9614955,2	Hela-S3	cervix:
6	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
7	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
8	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
9	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
10	chr18:9584254..9588034-chr18:9613364..9615601,3	MCF-7	breast:
11	chr1:28974882..28975858-chr18:9614139..9614753,2	Hela-S3	cervix:
12	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
13	chr18:9474922..9476536-chr18:9613527..9616238,2	MCF-7	breast:
14	chr18:9613618..9614587-chr22:31686737..31687476,2	Hela-S3	cervix:
15	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
16	chr18:9613016..9616228-chr18:9911513..9913644,4	K562	blood:

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000263627	TF binding region
ENSG00000137834	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000265564	Chromatin interaction
ENSG00000266541	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv1836290	chr18:9611497-9614851	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	esv13724	chr18:9614223-9614938	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
11	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9612000-9615000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr18:9612200-9615200	Active TSS	NHLF	lung
3	chr18:9612400-9614800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:9612400-9615200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr18:9612400-9615200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:9612400-9615200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:9612400-9615400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:9612400-9615800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:9612600-9615200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:9612600-9615200	Active TSS	HMEC	breast
11	chr18:9612600-9615400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr18:9612600-9615400	Active TSS	Ovary	ovary
13	chr18:9612600-9615600	Active TSS	Right Ventricle	heart
14	chr18:9612600-9615800	Active TSS	Aorta	Aorta
15	chr18:9612800-9615000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:9612800-9615200	Active TSS	Fetal Muscle Leg	muscle
17	chr18:9612800-9615200	Active TSS	HSMM	muscle
18	chr18:9612800-9615200	Active TSS	HSMMtube	muscle
19	chr18:9612800-9615200	Active TSS	NHDF-Ad	bronchial
20	chr18:9612800-9615400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr18:9612800-9615400	Active TSS	A549	lung
22	chr18:9612800-9615600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr18:9613000-9615200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr18:9613000-9615200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:9613000-9615200	Active TSS	Fetal Stomach	stomach
26	chr18:9613000-9615400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr18:9613000-9615600	Active TSS	Fetal Brain Female	brain
28	chr18:9613200-9615000	Active TSS	K562	blood
29	chr18:9613200-9615200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:9613200-9615200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr18:9613200-9615200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr18:9613200-9615200	Active TSS	Brain Cingulate Gyrus	brain
33	chr18:9613200-9615200	Active TSS	Brain Hippocampus Middle	brain
34	chr18:9613200-9615200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:9613200-9615200	Active TSS	Brain Substantia Nigra	brain
36	chr18:9613200-9615200	Active TSS	Colonic Mucosa	Colon
37	chr18:9613200-9615200	Active TSS	Fetal Intestine Small	intestine
38	chr18:9613200-9615200	Active TSS	Placenta	Placenta
39	chr18:9613200-9615200	Active TSS	Fetal Thymus	thymus
40	chr18:9613200-9615200	Active TSS	Stomach Smooth Muscle	stomach
41	chr18:9613200-9615200	Active TSS	NHEK	skin
42	chr18:9613200-9615400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:9613200-9615400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:9613200-9615400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:9613200-9615400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr18:9613200-9615400	Active TSS	Colon Smooth Muscle	Colon
47	chr18:9613200-9615400	Active TSS	Fetal Intestine Large	intestine
48	chr18:9613200-9615600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr18:9613400-9615000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr18:9613400-9615000	Active TSS	Fetal Muscle Trunk	muscle

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