Variant report

Variant	rs16976750
Chromosome Location	chr18:11851480-11851481
allele	A/C
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	TAF1	chr18:11850980-11852178	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr18:11849832-11852148	K562	blood:	n/a	n/a
3	ETS1	chr18:11851202-11851518	A549	lung:	n/a	chr18:11851398-11851409 chr18:11851222-11851237 chr18:11851394-11851410 chr18:11851398-11851407 chr18:11851397-11851410 chr18:11851399-11851410 chr18:11851398-11851412
4	SIN3A	chr18:11851010-11852147	GM12878	blood:	n/a	chr18:11852008-11852021
5	ZC3H11A	chr18:11850984-11851604	K562	blood:	n/a	n/a
6	E2F6	chr18:11851172-11851605	A549	lung:	n/a	chr18:11851366-11851375 chr18:11851351-11851358 chr18:11851364-11851373
7	TAF1	chr18:11851145-11851609	MCF-7	breast:	n/a	n/a
8	SPI1	chr18:11851154-11851614	GM12891	blood:	n/a	chr18:11851395-11851408 chr18:11851394-11851407 chr18:11851397-11851406 chr18:11851394-11851407
9	POLR2A	chr18:11850915-11851589	PFSK-1	brain:	n/a	n/a
10	GATA1	chr18:11850242-11851693	PBDE	blood:	n/a	chr18:11851398-11851408
11	POLR2A	chr18:11849544-11856636	Hela-S3	cervix:	n/a	n/a
12	SP1	chr18:11851166-11851628	H1-hESC	embryonic stem cell:	n/a	chr18:11851314-11851323 chr18:11851313-11851325 chr18:11851342-11851353
13	MXI1	chr18:11851044-11851591	H1-hESC	embryonic stem cell:	n/a	n/a
14	MXI1	chr18:11849962-11852318	Hela-S3	cervix:	n/a	n/a
15	TBL1XR1	chr18:11849929-11852210	K562	blood:	n/a	n/a
16	TAF1	chr18:11851033-11851631	PFSK-1	brain:	n/a	n/a
17	JUN	chr18:11849448-11852755	K562	blood:	n/a	chr18:11851364-11851377 chr18:11851365-11851374 chr18:11850578-11850589
18	RELA	chr18:11850818-11851843	GM10847	blood:	n/a	n/a
19	ATF2	chr18:11851158-11851599	GM12878	blood:	n/a	chr18:11851364-11851375
20	RELA	chr18:11850962-11851591	GM19099	blood:	n/a	n/a
21	NRF1	chr18:11851085-11851514	GM12878	blood:	n/a	n/a
22	ATF3	chr18:11851170-11851541	HepG2	liver:	n/a	chr18:11851366-11851377 chr18:11851366-11851376 chr18:11851362-11851377 chr18:11851363-11851373 chr18:11851366-11851374 chr18:11851366-11851373 chr18:11851365-11851385 chr18:11851363-11851374 chr18:11851364-11851375 chr18:11851363-11851376 chr18:11851363-11851373 chr18:11851362-11851375 chr18:11851364-11851375 chr18:11851354-11851374
23	CTCF	chr18:11851233-11851625	K562	blood:	n/a	n/a
24	SP1	chr18:11851105-11851590	GM12878	blood:	n/a	chr18:11851314-11851323 chr18:11851313-11851325 chr18:11851342-11851353
25	ZMIZ1	chr18:11849967-11851617	K562	blood:	n/a	n/a
26	GABPA	chr18:11850899-11851863	MCF-7	breast:	n/a	n/a
27	SMC3	chr18:11850903-11852589	Hela-S3	cervix:	n/a	n/a
28	ELF1	chr18:11850884-11852156	HCT-116	colon:	n/a	chr18:11851396-11851407 chr18:11851395-11851406 chr18:11851394-11851407
29	POLR2A	chr18:11849708-11855634	Hela-S3	cervix:	n/a	n/a
30	MAX	chr18:11851006-11852150	SK-N-SH	brain:	n/a	n/a
31	RELA	chr18:11850270-11851850	GM18505	blood:	n/a	n/a
32	CHD1	chr18:11849434-11853974	IMR90	lung:	n/a	n/a
33	UBTF	chr18:11850905-11852185	K562	blood:	n/a	n/a
34	TEAD4	chr18:11850961-11852138	K562	blood:	n/a	n/a
35	RAD21	chr18:11850711-11852012	IMR90	lung:	n/a	n/a
36	YY1	chr18:11851196-11851704	H1-hESC	embryonic stem cell:	n/a	chr18:11851424-11851435
37	MAX	chr18:11850942-11852289	K562	blood:	n/a	n/a
38	REST	chr18:11851195-11851599	Hela-S3	cervix:	n/a	chr18:11851430-11851440
39	EP300	chr18:11851045-11851643	A549	lung:	n/a	chr18:11851424-11851440 chr18:11851396-11851410 chr18:11851397-11851406
40	POLR2A	chr18:11850938-11851576	SK-N-MC	brain:	n/a	n/a
41	ELF1	chr18:11850946-11851956	MCF-7	breast:	n/a	chr18:11851396-11851407 chr18:11851395-11851406 chr18:11851394-11851407
42	ZKSCAN1	chr18:11850938-11852140	Hela-S3	cervix:	n/a	n/a
43	ELF1	chr18:11851103-11851681	HepG2	liver:	n/a	chr18:11851396-11851407 chr18:11851395-11851406 chr18:11851394-11851407
44	GABPA	chr18:11851033-11851608	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr18:11850998-11851675	SK-N-SH	brain:	n/a	n/a
46	YY1	chr18:11851149-11852151	GM12891	blood:	n/a	chr18:11851424-11851435
47	CBX3	chr18:11850897-11851545	K562	blood:	n/a	n/a
48	POLR2A	chr18:11851010-11851640	HepG2	liver:	n/a	n/a
49	JUND	chr18:11850827-11852209	SK-N-SH	brain:	n/a	chr18:11851365-11851374
50	MYC	chr18:11850794-11851551	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:11851469-11851519	AoSMC	blood vessel:	n/a
2	chr18:11851469-11851519	ovcar-3	ovarian:	n/a
3	chr18:11851469-11851519	HCF	heart:	n/a
4	chr18:11851469-11851519	AG04450	lung:	fetal
5	chr18:11851469-11851519	Hela-S3	cervix:	n/a
6	chr18:11851469-11851519	LNCaP	prostate:	n/a
7	chr18:11851469-11851519	HRE	kidney:	n/a
8	chr18:11851469-11851519	T-47D	breast:	n/a
9	chr18:11851469-11851519	GM06990	blood:	n/a
10	chr18:11851469-11851519	MCF10A-Er-Src	breast:	n/a
11	chr18:11851469-11851519	AG09309	skin:	n/a
12	chr18:11851469-11851519	HIPEpiC	eye:	n/a
13	chr18:11851469-11851519	BJ	skin:	n/a
14	chr18:11851469-11851519	HMEC	breast:	n/a
15	chr18:11851469-11851519	NHBE	bronchial:	n/a
16	chr18:11851469-11851519	GM12878	blood:	n/a
17	chr18:11851469-11851519	U87	brain:	n/a
18	chr18:11851469-11851519	HEK293	kidney:	embryo
19	chr18:11851469-11851519	HEEpiC	esophagus:	n/a
20	chr18:11851469-11851519	HL-60	blood:	n/a
21	chr18:11851469-11851519	PANC-1	pancreas:	n/a
22	chr18:11851469-11851519	ProgFib	skin:	n/a
23	chr18:11851469-11851519	HUVEC	blood vessel:	n/a
24	chr18:11851469-11851519	SK-N-SH	brain:	n/a
25	chr18:11851469-11851519	PrEC	prostate:	n/a
26	chr18:11851469-11851519	SKMC	muscle:	n/a
27	chr18:11851469-11851519	IMR90	lung:	fetal
28	chr18:11851469-11851519	K562	blood:	n/a
29	chr18:11851469-11851519	MCF-7	breast:	n/a
30	chr18:11851469-11851519	Jurkat	blood:	n/a
31	chr18:11851469-11851519	HRPEpiC	eye:	n/a
32	chr18:11851469-11851519	AG09319	gingival:	n/a
33	chr18:11851469-11851519	HPAEpiC	pulmonary alveolar:	n/a
34	chr18:11851469-11851519	HepG2	liver:	n/a
35	chr18:11851469-11851519	HCPEpiC	choroid plexus:	n/a
36	chr18:11851469-11851519	HAEpiC	amniotic membrane:	n/a
37	chr18:11851469-11851519	NB4	blood:	n/a
38	chr18:11851469-11851519	H1-hESC	embryonic stem cell:	embryo
39	chr18:11851469-11851519	CMK	blood:	n/a
40	chr18:11851469-11851519	PFSK-1	brain:	n/a
41	chr18:11851469-11851519	NT2-D1	testis:	n/a
42	chr18:11851469-11851519	SK-N-SH_RA	brain:	n/a
43	chr18:11851469-11851519	HCT-116	colon:	n/a
44	chr18:11851469-11851519	Caco-2	colon:	n/a
45	chr18:11851469-11851519	AG04449	skin:	fetal
46	chr18:11851469-11851519	GM12892	blood:	n/a
47	chr18:11851469-11851519	NH-A	brain:	n/a
48	chr18:11851469-11851519	SAEC	small airway:	n/a
49	chr18:11851469-11851519	GM19239	blood:	n/a
50	chr18:11851469-11851519	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:11848894..11852838-chr18:11907232..11909901,3	MCF-7	breast:
2	chr18:11848574..11852252-chr18:11979272..11982648,7	K562	blood:
3	chr15:91260142..91260830-chr18:11851175..11851934,2	Hela-S3	cervix:
4	chr18:11848600..11852886-chr18:11853629..11859008,5	K562	blood:
5	chr18:11850832..11852430-chr18:11888810..11890757,2	K562	blood:
6	chr18:11851465..11852154-chr18:11908306..11909174,2	MCF-7	breast:
7	chr12:52449879..52450454-chr18:11851166..11851842,2	Hela-S3	cervix:
8	chr18:11848937..11853647-chr18:11979272..11982109,5	K562	blood:
9	chr1:40505347..40506112-chr18:11850514..11851481,2	Hela-S3	cervix:
10	chr18:11849809..11852493-chr18:11906595..11908569,3	K562	blood:
11	chr10:135122133..135123004-chr18:11851374..11851883,2	NB4	blood:
12	chr18:11808910..11811619-chr18:11851071..11853396,2	MCF-7	breast:
13	chr18:9913746..9914535-chr18:11851338..11852139,3	Hela-S3	cervix:
14	chr17:73775583..73776224-chr18:11851272..11851914,2	Hela-S3	cervix:
15	chr18:11848334..11851734-chr18:11906595..11909240,3	K562	blood:
16	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
17	chr15:41098827..41099580-chr18:11851185..11852024,2	Hela-S3	cervix:
18	chr18:11851217..11853122-chr18:11907362..11910210,4	MCF-7	breast:

Variant related genes	Relation type
CHMP1B	TF binding region
CHMP1B	CpG island
ENSG00000180694	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000267455	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000198546	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000141401	Chromatin interaction
ENSG00000259736	Chromatin interaction
ENSG00000273141	Chromatin interaction
ENSG00000130640	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000197299	Chromatin interaction
ENSG00000131236	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000141404	Chromatin interaction
ENSG00000272703	Chromatin interaction
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1249630	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs12607391	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12607581	0.83[ASN][1000 genomes]
rs12607811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16976735	0.92[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16976739	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1786569	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs1786570	0.84[ASN][1000 genomes]
rs2276134	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4324196	0.82[ASN][1000 genomes]
rs60682158	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60821058	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7229724	1.00[YRI][hapmap]
rs72868650	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72868655	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72868658	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9946370	0.90[ASN][1000 genomes]
rs9962908	0.81[CHB][hapmap]
rs9966733	0.94[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr18:11849800-11852200	Active TSS	Rectal Smooth Muscle	rectum
2	chr18:11849800-11852400	Active TSS	Aorta	Aorta
3	chr18:11849800-11853000	Active TSS	Colon Smooth Muscle	Colon
4	chr18:11849800-11853000	Active TSS	NHDF-Ad	bronchial
5	chr18:11849800-11853200	Active TSS	Colonic Mucosa	Colon
6	chr18:11849800-11853200	Active TSS	Fetal Intestine Small	intestine
7	chr18:11849800-11853200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr18:11849800-11853200	Active TSS	HSMMtube	muscle
9	chr18:11849800-11853400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:11849800-11854000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:11850000-11851600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:11850000-11852200	Active TSS	Esophagus	oesophagus
13	chr18:11850000-11852200	Active TSS	Gastric	stomach
14	chr18:11850000-11852400	Active TSS	Left Ventricle	heart
15	chr18:11850000-11852600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr18:11850000-11853000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:11850000-11853000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr18:11850000-11853200	Active TSS	Brain Cingulate Gyrus	brain
19	chr18:11850000-11853200	Active TSS	Ovary	ovary
20	chr18:11850000-11853200	Active TSS	Psoas Muscle	Psoas
21	chr18:11850000-11853200	Active TSS	Stomach Mucosa	stomach
22	chr18:11850000-11853800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:11850200-11851800	Active TSS	Brain Angular Gyrus	brain
24	chr18:11850200-11852000	Active TSS	Brain Substantia Nigra	brain
25	chr18:11850200-11852200	Active TSS	Fetal Brain Male	brain
26	chr18:11850200-11852200	Active TSS	Pancreas	Pancrea
27	chr18:11850200-11852200	Active TSS	Stomach Smooth Muscle	stomach
28	chr18:11850200-11852400	Active TSS	Lung	lung
29	chr18:11850200-11852600	Active TSS	Placenta	Placenta
30	chr18:11850200-11853000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr18:11850200-11853000	Active TSS	Thymus	Thymus
32	chr18:11850200-11853600	Active TSS	Right Ventricle	heart
33	chr18:11850200-11853800	Active TSS	Right Atrium	heart
34	chr18:11850200-11854000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr18:11850400-11851800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr18:11850400-11851800	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr18:11850400-11852200	Active TSS	Fetal Lung	lung
38	chr18:11850400-11852400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr18:11850400-11852400	Active TSS	Placenta Amnion	Placenta Amnion
40	chr18:11850400-11852600	Active TSS	Fetal Muscle Trunk	muscle
41	chr18:11850400-11852800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr18:11850400-11853000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr18:11850400-11853200	Active TSS	Fetal Thymus	thymus
44	chr18:11850600-11851600	Active TSS	Primary T cells fromperipheralblood	blood
45	chr18:11850600-11851600	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr18:11850600-11851800	Active TSS	Brain Germinal Matrix	brain
47	chr18:11850600-11852000	Active TSS	Primary B cells from peripheral blood	blood
48	chr18:11850600-11852200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr18:11850600-11852200	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr18:11850600-11852200	Active TSS	Cortex derived primary cultured neurospheres	brain

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