Variant report

Variant	rs16978476
Chromosome Location	chr18:43318733-43318734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:43318600-43318750	HVMF	connective:	n/a	n/a
2	CTCF	chr18:43318660-43318810	HCFaa	heart:	n/a	n/a
3	CTCF	chr18:43318726-43318903	MCF-7	breast:	n/a	n/a
4	CTCF	chr18:43318640-43318790	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr18:43318720-43318870	HPAF	blood vessel:	n/a	n/a
6	MAX	chr18:43318660-43318943	MCF-7	breast:	n/a	n/a
7	RAD21	chr18:43318662-43318878	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr18:43318720-43318870	HMF	breast:	n/a	n/a
9	CTCF	chr18:43318725-43318922	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr18:43318680-43318830	HCPEpiC	choroid plexus:	n/a	n/a
11	GATA2	chr18:43318594-43318852	SH-SY5Y	brain:	n/a	n/a
12	RAD21	chr18:43318526-43319106	HCT-116	colon:	n/a	n/a
13	CTCF	chr18:43318723-43318855	NHEK	skin:	n/a	n/a
14	CTCF	chr18:43318660-43318810	SAEC	small airway:	n/a	n/a
15	CTCF	chr18:43318662-43318980	MCF-7	breast:	n/a	n/a
16	CTCF	chr18:43318680-43318830	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr18:43318720-43318870	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr18:43318660-43318810	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr18:43318700-43318850	NHEK	skin:	n/a	n/a
20	CTCF	chr18:43318680-43318830	NHLF	lung:	n/a	n/a
21	CTCF	chr18:43318540-43318998	MCF-7	breast:	n/a	n/a
22	CTCF	chr18:43318600-43318890	NHEK	skin:	n/a	n/a
23	CTCF	chr18:43318720-43318870	HCT-116	colon:	n/a	n/a
24	CTCF	chr18:43318720-43318870	AG09309	skin:	n/a	n/a
25	CTCF	chr18:43318681-43318920	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr18:43318669-43318935	MCF-7	breast:	n/a	n/a
27	RAD21	chr18:43318679-43318945	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr18:43318680-43318830	HBMEC	blood vessel:	n/a	n/a
29	RAD21	chr18:43318614-43318977	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr18:43318660-43318810	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr18:43318486-43319096	HCT-116	colon:	n/a	n/a
32	RAD21	chr18:43318669-43318935	IMR90	lung:	n/a	n/a
33	CTCF	chr18:43318680-43318926	MCF-7	breast:	n/a	n/a
34	CTCF	chr18:43318700-43318850	HRE	kidney:	n/a	n/a
35	RAD21	chr18:43318655-43318935	SK-N-SH_RA	brain:	n/a	n/a
36	RAD21	chr18:43318639-43318950	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr18:43318680-43318830	AG09319	gingival:	n/a	n/a
38	CTCF	chr18:43318720-43318870	HVMF	connective:	n/a	n/a
39	RAD21	chr18:43318560-43319026	HCT-116	colon:	n/a	n/a
40	CTCF	chr18:43318714-43318845	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr18:43318699-43318920	MCF-7	breast:	n/a	n/a
42	CTCF	chr18:43318720-43318870	MCF-7	breast:	n/a	n/a
43	CTCF	chr18:43318661-43318928	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr18:43318700-43318850	HMF	breast:	n/a	n/a
45	RAD21	chr18:43318614-43318997	MCF-7	breast:	n/a	n/a
46	CTCF	chr18:43318700-43318850	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr18:43318720-43318870	HMEC	breast:	n/a	n/a
48	CTCF	chr18:43318700-43318850	HEK293	kidney:	n/a	n/a
49	CTCF	chr18:43318653-43318894	IMR90	lung:	n/a	n/a
50	CTCF	chr18:43318640-43318790	RPTEC	kidney:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:43318288..43319230-chr18:43419137..43420055,4	MCF-7	breast:
2	chr18:43313599..43315940-chr18:43318137..43319930,2	MCF-7	breast:
3	chr18:43317469..43320372-chr18:43417821..43420206,2	MCF-7	breast:
4	chr18:43318473..43319003-chr18:43382194..43382914,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC14A1	TF binding region
ENSG00000197046	Chromatin interaction
ENSG00000141469	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11873365	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11875230	1.00[EUR][1000 genomes]
rs11877436	1.00[EUR][1000 genomes]
rs16978492	1.00[EUR][1000 genomes]
rs16978493	1.00[EUR][1000 genomes]
rs16978494	1.00[EUR][1000 genomes]
rs28438661	1.00[EUR][1000 genomes]
rs28450604	1.00[EUR][1000 genomes]
rs28460769	1.00[EUR][1000 genomes]
rs28461979	1.00[EUR][1000 genomes]
rs28483450	1.00[EUR][1000 genomes]
rs28605020	1.00[EUR][1000 genomes]
rs28669237	1.00[EUR][1000 genomes]
rs28698347	1.00[EUR][1000 genomes]
rs28757795	1.00[EUR][1000 genomes]
rs28898876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28898881	1.00[EUR][1000 genomes]
rs28898882	1.00[EUR][1000 genomes]
rs28898887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28898895	1.00[EUR][1000 genomes]
rs28994273	1.00[EUR][1000 genomes]
rs28994285	1.00[EUR][1000 genomes]
rs28994287	1.00[EUR][1000 genomes]
rs28994295	1.00[EUR][1000 genomes]
rs34674177	1.00[EUR][1000 genomes]
rs515596	1.00[EUR][1000 genomes]
rs56193937	1.00[EUR][1000 genomes]
rs7228878	1.00[EUR][1000 genomes]
rs7236728	1.00[EUR][1000 genomes]
rs7242125	1.00[EUR][1000 genomes]
rs7243454	1.00[EUR][1000 genomes]
rs73953681	1.00[EUR][1000 genomes]
rs8084290	1.00[EUR][1000 genomes]
rs8089544	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8089798	1.00[EUR][1000 genomes]
rs8090934	1.00[EUR][1000 genomes]
rs9946629	1.00[EUR][1000 genomes]
rs9946802	1.00[EUR][1000 genomes]
rs9947795	1.00[EUR][1000 genomes]
rs9948555	1.00[EUR][1000 genomes]
rs9948715	1.00[EUR][1000 genomes]
rs9951978	1.00[EUR][1000 genomes]
rs9953484	1.00[EUR][1000 genomes]
rs9954523	1.00[EUR][1000 genomes]
rs9955015	1.00[EUR][1000 genomes]
rs9957147	1.00[EUR][1000 genomes]
rs9957464	1.00[EUR][1000 genomes]
rs9957999	1.00[EUR][1000 genomes]
rs9958360	1.00[EUR][1000 genomes]
rs9958987	1.00[EUR][1000 genomes]
rs9959151	1.00[EUR][1000 genomes]
rs9959239	1.00[EUR][1000 genomes]
rs9960635	1.00[EUR][1000 genomes]
rs9961926	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9964753	1.00[EUR][1000 genomes]
rs9964968	1.00[EUR][1000 genomes]
rs9965236	1.00[EUR][1000 genomes]
rs9965728	1.00[EUR][1000 genomes]
rs9966061	1.00[EUR][1000 genomes]
rs9967557	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv909587	chr18:43269125-43333526	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43290200-43323000	Weak transcription	Primary B cells from cord blood	blood
2	chr18:43296000-43319400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr18:43296000-43325600	Weak transcription	Primary T cells from cord blood	blood
4	chr18:43305000-43331200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:43306000-43318800	Weak transcription	Aorta	Aorta
6	chr18:43307200-43320800	Weak transcription	Brain Substantia Nigra	brain
7	chr18:43307400-43332200	Weak transcription	Brain Anterior Caudate	brain
8	chr18:43307600-43320800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr18:43309400-43319800	Weak transcription	Pancreas	Pancrea
10	chr18:43312000-43318800	Strong transcription	Osteobl	bone
11	chr18:43312400-43319400	Weak transcription	NHLF	lung
12	chr18:43312400-43322400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:43312400-43325200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:43312800-43326000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:43312800-43335200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:43313000-43326000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:43314000-43318800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr18:43314600-43319600	Enhancers	Fetal Heart	heart
19	chr18:43314800-43319400	Weak transcription	Right Ventricle	heart
20	chr18:43315200-43319600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:43316800-43318800	Weak transcription	Left Ventricle	heart
22	chr18:43316800-43319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:43316800-43319400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:43316800-43319400	Weak transcription	Right Atrium	heart
25	chr18:43318200-43319400	Weak transcription	Spleen	Spleen
26	chr18:43318600-43319000	Enhancers	NHDF-Ad	bronchial
27	chr18:43318600-43320200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr18:43318600-43320400	Enhancers	HSMMtube	muscle

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