Variant report

Variant	rs2783515
Chromosome Location	chr14:70193570-70193571
allele	C/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	MAZ	chr14:70193561-70194034	GM12878	blood:	n/a	n/a
2	TCF12	chr14:70193413-70194136	A549	lung:	n/a	n/a
3	E2F6	chr14:70193451-70193654	K562	blood:	n/a	chr14:70193572-70193581
4	CTCF	chr14:70193473-70194028	T-47D	breast:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
5	CTCF	chr14:70193533-70193650	SK-N-SH_RA	brain:	n/a	chr14:70193608-70193621
6	HCFC1	chr14:70193404-70193913	K562	blood:	n/a	n/a
7	E2F6	chr14:70193342-70194079	H1-hESC	embryonic stem cell:	n/a	chr14:70193572-70193581
8	RAD21	chr14:70193388-70194000	SK-N-SH_RA	brain:	n/a	chr14:70193871-70193884 chr14:70193842-70193861
9	CTCF	chr14:70193400-70194018	K562	blood:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
10	CTCF	chr14:70193475-70194029	GM19238	blood:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
11	CTCF	chr14:70193516-70194010	Kidney_OC	kidney:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
12	FOXM1	chr14:70193554-70194066	GM12878	blood:	n/a	n/a
13	PML	chr14:70193379-70194117	GM12878	blood:	n/a	n/a
14	CTCF	chr14:70193443-70194120	GM12878	blood:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
15	CTCF	chr14:70193465-70193680	H1-hESC	embryonic stem cell:	n/a	chr14:70193608-70193621
16	RAD21	chr14:70193322-70194174	H1-hESC	embryonic stem cell:	n/a	chr14:70193871-70193884 chr14:70193842-70193861
17	MAX	chr14:70193181-70194176	HCT-116	colon:	n/a	n/a
18	HDAC2	chr14:70193310-70194114	MCF-7	breast:	n/a	chr14:70193386-70193400 chr14:70193381-70193395 chr14:70193382-70193396 chr14:70193380-70193394 chr14:70193377-70193391
19	MXI1	chr14:70193446-70194027	GM12878	blood:	n/a	n/a
20	RAD21	chr14:70193374-70194173	A549	lung:	n/a	chr14:70193871-70193884 chr14:70193842-70193861
21	MAX	chr14:70193267-70194073	A549	lung:	n/a	n/a
22	YY1	chr14:70193409-70194035	GM12892	blood:	n/a	chr14:70193843-70193862
23	RAD21	chr14:70193389-70194009	GM12878	blood:	n/a	chr14:70193871-70193884 chr14:70193842-70193861
24	STAT5A	chr14:70193328-70193813	GM12878	blood:	n/a	chr14:70193672-70193684 chr14:70193693-70193701
25	CTCF	chr14:70193475-70194031	GM12892	blood:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
26	MYC	chr14:70193498-70193990	K562	blood:	n/a	n/a
27	RAD21	chr14:70193452-70194075	H1-hESC	embryonic stem cell:	n/a	chr14:70193871-70193884 chr14:70193842-70193861
28	ELF1	chr14:70193381-70194043	GM12878	blood:	n/a	chr14:70193611-70193623
29	CTCF	chr14:70193466-70194025	MCF-7	breast:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
30	EBF1	chr14:70193315-70193696	GM12878	blood:	n/a	n/a
31	CTCF	chr14:70193475-70194026	GM19239	blood:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
32	CTCF	chr14:70193446-70194131	MCF-7	breast:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
33	YY1	chr14:70193459-70193990	GM12878	blood:	n/a	chr14:70193843-70193862
34	CTCF	chr14:70193446-70194030	GM12891	blood:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
35	MAX	chr14:70193282-70194060	ECC-1	luminal epithelium:	n/a	n/a
36	TBL1XR1	chr14:70193514-70194123	GM12878	blood:	n/a	n/a
37	CTCF	chr14:70193512-70194024	GM19240	blood:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
38	CTCF	chr14:70193513-70194100	A549	lung:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
39	MAZ	chr14:70193443-70194156	K562	blood:	n/a	n/a
40	HMGN3	chr14:70193452-70194010	K562	blood:	n/a	n/a
41	MTA3	chr14:70193336-70194251	GM12878	blood:	n/a	n/a
42	E2F6	chr14:70193292-70194000	A549	lung:	n/a	chr14:70193572-70193581
43	E2F6	chr14:70193337-70193929	K562	blood:	n/a	chr14:70193572-70193581
44	CTCF	chr14:70193336-70194175	HCT-116	colon:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
45	CCNT2	chr14:70193520-70193944	K562	blood:	n/a	n/a
46	MAX	chr14:70193267-70194175	A549	lung:	n/a	n/a
47	MAX	chr14:70193332-70194083	ECC-1	luminal epithelium:	n/a	n/a
48	CTCF	chr14:70193498-70194017	NHEK	skin:	n/a	chr14:70193608-70193621 chr14:70193844-70193862 chr14:70193839-70193860 chr14:70193849-70193857 chr14:70193845-70193861
49	EGR1	chr14:70193382-70194008	K562	blood:	n/a	chr14:70193573-70193586 chr14:70193863-70193877
50	UBTF	chr14:70193331-70194030	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70078354..70079913-chr14:70192981..70195416,2	K562	blood:
2	chr14:70193435..70195061-chr14:70232589..70234499,2	K562	blood:
3	chr14:70076119..70078735-chr14:70193171..70195049,2	MCF-7	breast:
4	chr14:70193520..70195047-chr14:70270485..70272012,2	MCF-7	breast:

Variant related genes	Relation type
SRSF5	TF binding region
ENSG00000100647	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000221060	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10149246	0.82[EUR][1000 genomes]
rs1275823	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1290041	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1295827	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2766462	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2766466	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs945312	0.82[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70181400-70193600	Weak transcription	Primary T cells from cord blood	blood
2	chr14:70191600-70193600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:70192400-70193600	Enhancers	Spleen	Spleen
4	chr14:70192400-70195400	Enhancers	Fetal Muscle Leg	muscle
5	chr14:70192600-70193600	Enhancers	Placenta	Placenta
6	chr14:70192800-70193600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:70192800-70194200	Enhancers	Primary hematopoietic stem cells	blood
8	chr14:70193000-70193600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr14:70193000-70194200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:70193200-70193600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr14:70193200-70193600	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:70193200-70193600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr14:70193200-70193600	Enhancers	Fetal Thymus	thymus
14	chr14:70193200-70193800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr14:70193200-70194600	Enhancers	Fetal Stomach	stomach
16	chr14:70193200-70195000	Enhancers	Lung	lung
17	chr14:70193400-70193600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr14:70193400-70193600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr14:70193400-70193600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:70193400-70193600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr14:70193400-70193600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:70193400-70193600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr14:70193400-70193600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:70193400-70193600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr14:70193400-70193600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:70193400-70193600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:70193400-70193600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr14:70193400-70193600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:70193400-70193600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:70193400-70193600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:70193400-70193600	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr14:70193400-70193600	Flanking Active TSS	Esophagus	oesophagus
33	chr14:70193400-70193600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr14:70193400-70193600	Flanking Active TSS	Left Ventricle	heart
35	chr14:70193400-70193600	Flanking Active TSS	Ovary	ovary
36	chr14:70193400-70193600	Flanking Active TSS	Psoas Muscle	Psoas
37	chr14:70193400-70193600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr14:70193400-70193600	Active TSS	Hela-S3	cervix
39	chr14:70193400-70193600	Flanking Active TSS	K562	blood
40	chr14:70193400-70193600	Flanking Active TSS	NHEK	skin
41	chr14:70193400-70193800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:70193400-70193800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr14:70193400-70193800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:70193400-70193800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr14:70193400-70193800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:70193400-70193800	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr14:70193400-70193800	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr14:70193400-70193800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr14:70193400-70193800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr14:70193400-70193800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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