Variant report

Variant	rs73394717
Chromosome Location	chr15:40885803-40885804
allele	A/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	GTF3C2	chr15:40885481-40886921	K562	blood:	n/a	n/a
2	TEAD4	chr15:40885694-40886837	K562	blood:	n/a	n/a
3	PAX5	chr15:40885748-40886419	GM12878	blood:	n/a	n/a
4	CEBPB	chr15:40885750-40886998	HCT-116	colon:	n/a	n/a
5	REST	chr15:40885676-40886730	H1-neurons	neurons:	n/a	n/a
6	CUX1	chr15:40885633-40886487	K562	blood:	n/a	n/a
7	ZKSCAN1	chr15:40885643-40887072	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr15:40885687-40886393	HepG2	liver:	n/a	n/a
9	NFIC	chr15:40885797-40886591	GM12878	blood:	n/a	chr15:40886323-40886340
10	TBP	chr15:40885414-40887116	GM12878	blood:	n/a	n/a
11	MXI1	chr15:40885667-40887387	Hela-S3	cervix:	n/a	n/a
12	YY1	chr15:40885609-40887207	SK-N-SH	brain:	n/a	chr15:40886231-40886241 chr15:40886174-40886184 chr15:40886232-40886240 chr15:40886727-40886738 chr15:40886177-40886185 chr15:40885718-40885734 chr15:40886174-40886184 chr15:40886930-40886941 chr15:40886224-40886243 chr15:40886174-40886196
13	ATF3	chr15:40885773-40886971	HCT-116	colon:	n/a	chr15:40886154-40886165 chr15:40886154-40886165
14	IRF4	chr15:40885752-40886502	GM12878	blood:	n/a	n/a
15	MAX	chr15:40885533-40887023	NB4	blood:	n/a	n/a
16	CEBPB	chr15:40885737-40886437	H1-hESC	embryonic stem cell:	n/a	n/a
17	ARID3A	chr15:40885221-40886584	HepG2	liver:	n/a	n/a
18	EP300	chr15:40885549-40886699	GM12878	blood:	n/a	chr15:40885823-40885837 chr15:40885728-40885742
19	MAZ	chr15:40885709-40887126	GM12878	blood:	n/a	n/a
20	ETS1	chr15:40885786-40886491	A549	lung:	n/a	n/a
21	TEAD4	chr15:40885756-40886739	HepG2	liver:	n/a	n/a
22	SREBP2	chr15:40884989-40888011	GM12878	blood:	n/a	n/a
23	TBP	chr15:40885663-40887062	K562	blood:	n/a	n/a
24	EP300	chr15:40885694-40886893	K562	blood:	n/a	chr15:40885823-40885837 chr15:40885728-40885742
25	POLR2A	chr15:40885764-40886962	PANC-1	pancreas:	n/a	n/a
26	FOXM1	chr15:40885734-40886818	GM12878	blood:	n/a	n/a
27	CEBPB	chr15:40885638-40886634	K562	blood:	n/a	n/a
28	PML	chr15:40885734-40887158	GM12878	blood:	n/a	n/a
29	CEBPB	chr15:40885696-40887076	HCT-116	colon:	n/a	n/a
30	BDP1	chr15:40885770-40886509	Hela-S3	cervix:	n/a	chr15:40886146-40886159
31	NFIC	chr15:40885679-40886740	GM12878	blood:	n/a	chr15:40886323-40886340
32	CREB1	chr15:40885761-40887190	GM12878	blood:	n/a	n/a
33	TEAD4	chr15:40885677-40887181	K562	blood:	n/a	n/a
34	IRF1	chr15:40885713-40886566	K562	blood:	n/a	chr15:40886391-40886405
35	CEBPB	chr15:40885119-40886512	K562	blood:	n/a	n/a
36	TRIM28	chr15:40885768-40887112	K562	blood:	n/a	n/a
37	HCFC1	chr15:40885326-40888020	Hela-S3	cervix:	n/a	n/a
38	TEAD4	chr15:40885802-40886451	A549	lung:	n/a	n/a
39	CEBPB	chr15:40885774-40886595	A549	lung:	n/a	n/a
40	MAX	chr15:40885776-40887137	A549	lung:	n/a	n/a
41	TEAD4	chr15:40885711-40886513	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr15:40885214-40885817	SH-SY5Y	brain:	n/a	chr15:40885788-40885798
43	POLR2A	chr15:40885798-40886871	HUVEC	blood vessel:	n/a	n/a
44	RFX5	chr15:40885609-40887630	Hela-S3	cervix:	n/a	n/a
45	EP300	chr15:40885495-40887148	GM12878	blood:	n/a	chr15:40885823-40885837 chr15:40885728-40885742
46	MTA3	chr15:40885681-40887045	GM12878	blood:	n/a	n/a
47	TCF12	chr15:40885725-40886884	A549	lung:	n/a	n/a
48	MYBL2	chr15:40885718-40886773	HepG2	liver:	n/a	n/a
49	GTF2F1	chr15:40885588-40887079	Hela-S3	cervix:	n/a	n/a
50	TBP	chr15:40885789-40886930	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40848640..40851135-chr15:40883399..40886206,2	K562	blood:
2	chr15:40885583..40887494-chr15:40985320..40988301,2	K562	blood:
3	chr15:40884808..40888126-chr15:40896275..40900248,4	K562	blood:
4	chr15:40854296..40857804-chr15:40884735..40887632,3	K562	blood:
5	chr15:40884637..40889853-chr15:40895293..40899936,6	K562	blood:

Variant related genes	Relation type
CASC5	TF binding region
ENSG00000238559	Chromatin interaction
ENSG00000245849	Chromatin interaction
ENSG00000051180	Chromatin interaction
ENSG00000128891	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs60063059	0.88[AFR][1000 genomes]
rs73394703	1.00[AMR][1000 genomes]
rs73394713	1.00[AMR][1000 genomes]
rs73394719	1.00[AFR][1000 genomes]
rs73394720	1.00[AFR][1000 genomes]
rs73394725	1.00[AFR][1000 genomes]
rs73394728	1.00[AFR][1000 genomes]
rs73394739	0.88[AFR][1000 genomes]
rs73394763	0.88[AFR][1000 genomes]
rs73394793	0.88[AFR][1000 genomes]
rs8027048	0.88[AFR][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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40882000-40886200	Weak transcription	Lung	lung
2	chr15:40882400-40886000	Weak transcription	Brain Substantia Nigra	brain
3	chr15:40882400-40886200	Weak transcription	HMEC	breast
4	chr15:40882600-40886000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:40882600-40886000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:40882600-40886000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:40882800-40886000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:40883000-40886000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:40883000-40886000	Weak transcription	Liver	Liver
10	chr15:40883000-40886000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr15:40883000-40886000	Weak transcription	Fetal Muscle Leg	muscle
12	chr15:40883000-40886000	Weak transcription	Osteobl	bone
13	chr15:40883200-40886000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:40883200-40886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:40883200-40886000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:40883200-40886000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:40883200-40886000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:40883200-40886200	Weak transcription	Aorta	Aorta
19	chr15:40883200-40886200	Weak transcription	Left Ventricle	heart
20	chr15:40883200-40886200	Weak transcription	Ovary	ovary
21	chr15:40883200-40886200	Weak transcription	NHLF	lung
22	chr15:40883400-40886200	Weak transcription	Right Atrium	heart
23	chr15:40883800-40886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:40883800-40886000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:40883800-40886000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:40883800-40886200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:40884000-40886000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr15:40884000-40886000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:40884000-40886000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:40884000-40886000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:40884000-40886000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:40884000-40886000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:40884000-40886000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:40884000-40886000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:40884000-40886000	Weak transcription	Placenta	Placenta
36	chr15:40884000-40886000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:40884000-40886200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:40884000-40886200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:40884000-40886200	Weak transcription	Fetal Heart	heart
40	chr15:40884000-40886200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr15:40884200-40886200	Weak transcription	Fetal Intestine Large	intestine
42	chr15:40884800-40886000	Enhancers	Fetal Intestine Small	intestine
43	chr15:40884800-40886000	Enhancers	Hela-S3	cervix
44	chr15:40885000-40886000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:40885200-40886000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:40885400-40886000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr15:40885400-40886000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr15:40885400-40886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:40885400-40886000	Enhancers	Stomach Mucosa	stomach
50	chr15:40885400-40886000	Enhancers	A549	lung

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