Variant report

Variant	rs7230946
Chromosome Location	chr18:9708100-9708101
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	POLR2A	chr18:9707825-9708508	K562	blood:	n/a	n/a
2	POLR2A	chr18:9707904-9708641	Gliobla	brain:	n/a	n/a
3	MAX	chr18:9707989-9708668	A549	lung:	n/a	chr18:9708235-9708246 chr18:9708236-9708245 chr18:9708236-9708245 chr18:9708234-9708247
4	RAD21	chr18:9707877-9708592	H1-hESC	embryonic stem cell:	n/a	chr18:9708455-9708469 chr18:9708028-9708041 chr18:9708070-9708082 chr18:9708581-9708591
5	USF1	chr18:9708064-9708421	GM12878	blood:	n/a	chr18:9708235-9708246
6	TBP	chr18:9707511-9708534	K562	blood:	n/a	n/a
7	ZMIZ1	chr18:9707974-9708297	K562	blood:	n/a	n/a
8	IRF1	chr18:9707946-9708372	K562	blood:	n/a	n/a
9	USF1	chr18:9707987-9708469	SK-N-SH_RA	brain:	n/a	chr18:9708235-9708246
10	ZNF384	chr18:9707845-9708158	K562	blood:	n/a	chr18:9707849-9707857
11	CCNT2	chr18:9707887-9708904	K562	blood:	n/a	n/a
12	MAX	chr18:9708079-9708447	HepG2	liver:	n/a	chr18:9708235-9708246 chr18:9708236-9708245 chr18:9708236-9708245 chr18:9708234-9708247
13	USF2	chr18:9708087-9708419	Hela-S3	cervix:	n/a	chr18:9708235-9708246
14	SIN3A	chr18:9708072-9708490	H1-hESC	embryonic stem cell:	n/a	chr18:9708235-9708244 chr18:9708237-9708246
15	E2F6	chr18:9707965-9708437	K562	blood:	n/a	n/a
16	POLR2A	chr18:9707875-9708598	U87	brain:	n/a	n/a
17	EGR1	chr18:9707892-9708409	K562	blood:	n/a	chr18:9708108-9708122
18	MXI1	chr18:9708083-9708288	HepG2	liver:	n/a	chr18:9708237-9708246
19	USF1	chr18:9708040-9708450	SK-N-SH	brain:	n/a	chr18:9708235-9708246
20	CTBP2	chr18:9707491-9708377	H1-hESC	embryonic stem cell:	n/a	n/a
21	HCFC1	chr18:9708012-9708471	K562	blood:	n/a	n/a
22	TAF1	chr18:9707864-9708544	K562	blood:	n/a	n/a
23	CREB1	chr18:9707897-9708349	A549	lung:	n/a	n/a
24	POLR2A	chr18:9707891-9708598	U87	brain:	n/a	n/a
25	POLR2A	chr18:9707848-9710635	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr18:9707756-9708491	K562	blood:	n/a	n/a
27	ATF3	chr18:9708043-9708404	H1-hESC	embryonic stem cell:	n/a	chr18:9708225-9708245 chr18:9708151-9708165
28	ELK1	chr18:9708093-9708177	Hela-S3	cervix:	n/a	n/a
29	MXI1	chr18:9708037-9708437	Hela-S3	cervix:	n/a	chr18:9708237-9708246
30	POLR2A	chr18:9707712-9709352	K562	blood:	n/a	n/a
31	POLR2A	chr18:9707831-9709883	GM12892	blood:	n/a	n/a
32	CTCF	chr18:9708091-9708561	K562	blood:	n/a	chr18:9708216-9708229 chr18:9708456-9708469 chr18:9708453-9708466 chr18:9708451-9708469
33	MAX	chr18:9707943-9708512	K562	blood:	n/a	chr18:9708235-9708246 chr18:9708236-9708245 chr18:9708236-9708245 chr18:9708234-9708247
34	POLR2A	chr18:9707983-9708858	Hela-S3	cervix:	n/a	n/a
35	SMARCB1	chr18:9707729-9709815	Hela-S3	cervix:	n/a	n/a
36	TAF1	chr18:9707818-9708508	K562	blood:	n/a	n/a
37	POLR2A	chr18:9707701-9708616	HUVEC	blood vessel:	n/a	n/a
38	UBTF	chr18:9707882-9708493	K562	blood:	n/a	n/a
39	EGR1	chr18:9707913-9708443	K562	blood:	n/a	chr18:9708108-9708122
40	POLR2A	chr18:9707813-9709353	GM19193	blood:	n/a	n/a
41	POLR2A	chr18:9707752-9708549	K562	blood:	n/a	n/a
42	ETS1	chr18:9707860-9708406	K562	blood:	n/a	chr18:9708296-9708307 chr18:9708180-9708193
43	ELF1	chr18:9708003-9708474	K562	blood:	n/a	chr18:9708376-9708388 chr18:9708048-9708060 chr18:9708277-9708289
44	MAX	chr18:9707733-9708786	H1-hESC	embryonic stem cell:	n/a	chr18:9708235-9708246 chr18:9708236-9708245 chr18:9708236-9708245 chr18:9708234-9708247
45	USF1	chr18:9708015-9708401	SK-N-SH_RA	brain:	n/a	chr18:9708235-9708246
46	USF1	chr18:9707965-9708473	K562	blood:	n/a	chr18:9708235-9708246
47	POLR2A	chr18:9708052-9708612	MCF-7	breast:	n/a	n/a
48	POLR2A	chr18:9707969-9708521	HEK293	kidney:	n/a	n/a
49	THAP1	chr18:9707759-9708457	K562	blood:	n/a	n/a
50	POLR2A	chr18:9708050-9708177	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:9708096-9708146	PFSK-1	brain:	n/a
2	chr18:9708096-9708146	NH-A	brain:	n/a
3	chr18:9708096-9708146	AG04449	skin:	fetal
4	chr18:9708098-9708148	MCF-7	breast:	n/a
5	chr18:9708096-9708146	HCF	heart:	n/a
6	chr18:9708096-9708146	HCT-116	colon:	n/a
7	chr18:9708096-9708146	AoSMC	blood vessel:	n/a
8	chr18:9708096-9708146	PrEC	prostate:	n/a
9	chr18:9708098-9708148	HRE	kidney:	n/a
10	chr18:9708098-9708148	AG09319	gingival:	n/a
11	chr18:9708098-9708148	PFSK-1	brain:	n/a
12	chr18:9708096-9708146	HL-60	blood:	n/a
13	chr18:9708098-9708148	SK-N-SH	brain:	n/a
14	chr18:9708096-9708146	Caco-2	colon:	n/a
15	chr18:9708098-9708148	IMR90	lung:	fetal
16	chr18:9708098-9708148	NB4	blood:	n/a
17	chr18:9708098-9708148	AG04449	skin:	fetal
18	chr18:9708096-9708146	ovcar-3	ovarian:	n/a
19	chr18:9708098-9708148	AG10803	skin:	n/a
20	chr18:9708096-9708146	SAEC	small airway:	n/a
21	chr18:9708098-9708148	HepG2	liver:	n/a
22	chr18:9708098-9708148	ECC-1	luminal epithelium:	n/a
23	chr18:9708096-9708146	ECC-1	luminal epithelium:	n/a
24	chr18:9708096-9708146	U87	brain:	n/a
25	chr18:9708098-9708148	T-47D	breast:	n/a
26	chr18:9708098-9708148	AG04450	lung:	fetal
27	chr18:9708098-9708148	HPAEpiC	pulmonary alveolar:	n/a
28	chr18:9708096-9708146	NHBE	bronchial:	n/a
29	chr18:9708098-9708148	GM19239	blood:	n/a
30	chr18:9708098-9708148	HUVEC	blood vessel:	n/a
31	chr18:9708096-9708146	ProgFib	skin:	n/a
32	chr18:9708098-9708148	HEEpiC	esophagus:	n/a
33	chr18:9708098-9708148	HCPEpiC	choroid plexus:	n/a
34	chr18:9708096-9708146	IMR90	lung:	fetal
35	chr18:9708096-9708146	Hepatocyte	liver:	n/a
36	chr18:9708096-9708146	GM06990	blood:	n/a
37	chr18:9708096-9708146	HRE	kidney:	n/a
38	chr18:9708098-9708148	Jurkat	blood:	n/a
39	chr18:9708096-9708146	HMEC	breast:	n/a
40	chr18:9708098-9708148	ovcar-3	ovarian:	n/a
41	chr18:9708098-9708148	SK-N-MC	brain:	n/a
42	chr18:9708096-9708146	HRCEpiC	kidney:	n/a
43	chr18:9708098-9708148	HEK293	kidney:	embryo
44	chr18:9708096-9708146	HEK293	kidney:	embryo
45	chr18:9708098-9708148	HCF	heart:	n/a
46	chr18:9708098-9708148	PrEC	prostate:	n/a
47	chr18:9708098-9708148	HNPCEpiC	eye:	n/a
48	chr18:9708098-9708148	HRCEpiC	kidney:	n/a
49	chr18:9708098-9708148	NHBE	bronchial:	n/a
50	chr18:9708098-9708148	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
2	chr18:9705049..9708161-chr18:9732147..9734824,4	K562	blood:
3	chr18:9705672..9708161-chr18:9732147..9734468,2	K562	blood:
4	chr18:9679137..9682962-chr18:9706802..9710430,4	K562	blood:
5	chr18:9706539..9708220-chr18:9796995..9799209,2	K562	blood:
6	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:

Variant related genes	Relation type
RAB31	TF binding region
RAB31	CpG island
ENSG00000263627	Chromatin interaction
ENSG00000264644	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12457728	0.82[EUR][1000 genomes]
rs34735184	0.81[EUR][1000 genomes]
rs62078924	0.82[EUR][1000 genomes]
rs6506685	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9707200-9709600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr18:9707400-9708200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr18:9707400-9708200	Flanking Active TSS	HUVEC	blood vessel
4	chr18:9707400-9708200	Flanking Active TSS	NH-A	brain
5	chr18:9707400-9709000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chr18:9707400-9709000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
7	chr18:9707400-9709400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr18:9707400-9709400	Active TSS	Brain Substantia Nigra	brain
9	chr18:9707400-9709400	Active TSS	Colon Smooth Muscle	Colon
10	chr18:9707400-9709400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr18:9707400-9709800	Active TSS	Aorta	Aorta
12	chr18:9707400-9709800	Active TSS	Brain Angular Gyrus	brain
13	chr18:9707400-9709800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:9707400-9709800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr18:9707400-9709800	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr18:9707400-9710000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:9707400-9710200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr18:9707600-9708200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr18:9707600-9708200	Flanking Active TSS	HMEC	breast
20	chr18:9707600-9708400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr18:9707600-9708400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr18:9707600-9708400	Active TSS	Liver	Liver
23	chr18:9707600-9708400	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr18:9707600-9708600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr18:9707600-9709000	Active TSS	Right Ventricle	heart
26	chr18:9707600-9709200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr18:9707600-9709400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:9707600-9709400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:9707600-9709400	Active TSS	Fetal Kidney	kidney
30	chr18:9707600-9709400	Active TSS	Placenta Amnion	Placenta Amnion
31	chr18:9707600-9709400	Active TSS	Stomach Smooth Muscle	stomach
32	chr18:9707600-9709600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:9707600-9709600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr18:9707600-9709600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:9707600-9709600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:9707600-9709600	Active TSS	Brain Hippocampus Middle	brain
37	chr18:9707600-9709600	Active TSS	Left Ventricle	heart
38	chr18:9707600-9709600	Active TSS	Lung	lung
39	chr18:9707600-9709800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr18:9707600-9709800	Active TSS	Right Atrium	heart
41	chr18:9707600-9710000	Active TSS	Ovary	ovary
42	chr18:9707600-9710000	Active TSS	HSMM	muscle
43	chr18:9707600-9710000	Active TSS	HSMMtube	muscle
44	chr18:9707600-9710200	Active TSS	Brain Anterior Caudate	brain
45	chr18:9707800-9708200	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr18:9707800-9708400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
47	chr18:9707800-9708400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr18:9707800-9708400	Active TSS	Stomach Mucosa	stomach
49	chr18:9707800-9708400	Weak transcription	Spleen	Spleen
50	chr18:9707800-9708600	Bivalent/Poised TSS	Thymus	Thymus

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