Variant report

Variant	rs58416217
Chromosome Location	chr15:78360644-78360645
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	KAP1	chr15:78359577-78361389	HEK293	kidney:	n/a	n/a
2	BHLHE40	chr15:78360523-78361474	GM12878	blood:	n/a	n/a
3	MAFK	chr15:78360181-78360878	IMR90	lung:	n/a	n/a
4	RUNX3	chr15:78360533-78361475	GM12878	blood:	n/a	n/a
5	MYC	chr15:78360643-78360837	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr15:78360590-78360862	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr15:78360473-78362556	GM12878	blood:	n/a	n/a
8	NFIC	chr15:78359451-78361108	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr15:78359413-78361164	SK-N-SH	brain:	n/a	chr15:78360539-78360546
10	MTA3	chr15:78360505-78361548	GM12878	blood:	n/a	n/a
11	TCF12	chr15:78359394-78361102	SK-N-SH	brain:	n/a	chr15:78361078-78361087
12	EBF1	chr15:78360616-78361611	GM12878	blood:	n/a	chr15:78361016-78361026 chr15:78361017-78361026 chr15:78361017-78361026 chr15:78361015-78361026 chr15:78361015-78361028
13	GATA3	chr15:78359506-78361013	SK-N-SH	brain:	n/a	chr15:78360539-78360546
14	EP300	chr15:78358540-78361397	SK-N-SH	brain:	n/a	chr15:78360191-78360205 chr15:78361188-78361198 chr15:78360535-78360543
15	TBL1XR1	chr15:78360554-78361659	GM12878	blood:	n/a	n/a
16	BCLAF1	chr15:78360529-78361416	GM12878	blood:	n/a	n/a
17	NFIC	chr15:78359453-78360644	SK-N-SH	brain:	n/a	n/a
18	TCF12	chr15:78359500-78360886	SK-N-SH	brain:	n/a	n/a
19	GATA3	chr15:78359580-78360667	SH-SY5Y	brain:	n/a	chr15:78360539-78360546
20	MAX	chr15:78360624-78362634	GM12878	blood:	n/a	chr15:78361366-78361376
21	RUNX3	chr15:78360561-78361640	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78360126..78361739-chr15:78367541..78369302,2	K562	blood:

Variant related genes	Relation type
TBC1D2B	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11858138	1.00[AMR][1000 genomes]
rs16953970	0.89[AMR][1000 genomes]
rs16969397	1.00[AMR][1000 genomes]
rs16969464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57993009	1.00[AMR][1000 genomes]
rs59499270	1.00[AMR][1000 genomes]
rs60031052	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61183047	1.00[AMR][1000 genomes]
rs61596558	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs735663	0.98[EUR][1000 genomes];0.98[ASN][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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1051558	chr15:78315542-78364947	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78347400-78367800	Enhancers	Placenta	Placenta
2	chr15:78349400-78360800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:78354200-78363200	Enhancers	Fetal Intestine Large	intestine
4	chr15:78354200-78363200	Enhancers	Stomach Mucosa	stomach
5	chr15:78354200-78366400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:78354600-78365400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr15:78354600-78366400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:78354800-78360800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:78354800-78360800	Enhancers	Brain Anterior Caudate	brain
10	chr15:78354800-78362600	Enhancers	Fetal Kidney	kidney
11	chr15:78354800-78362800	Enhancers	HSMMtube	muscle
12	chr15:78355000-78360800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr15:78355000-78363200	Enhancers	Brain Substantia Nigra	brain
14	chr15:78355200-78360800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:78355200-78362800	Enhancers	Pancreas	Pancrea
16	chr15:78355200-78364000	Enhancers	Dnd41	blood
17	chr15:78355600-78365400	Enhancers	Small Intestine	intestine
18	chr15:78355800-78360800	Enhancers	Rectal Smooth Muscle	rectum
19	chr15:78355800-78363000	Enhancers	Spleen	Spleen
20	chr15:78355800-78363200	Enhancers	Right Atrium	heart
21	chr15:78355800-78364000	Enhancers	Fetal Muscle Leg	muscle
22	chr15:78356000-78363000	Enhancers	Brain Angular Gyrus	brain
23	chr15:78356000-78363800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:78356200-78362800	Enhancers	Psoas Muscle	Psoas
25	chr15:78356200-78363000	Enhancers	Fetal Stomach	stomach
26	chr15:78356400-78361000	Enhancers	HUVEC	blood vessel
27	chr15:78356400-78363000	Enhancers	Brain Cingulate Gyrus	brain
28	chr15:78356600-78360800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr15:78356600-78362400	Enhancers	Fetal Lung	lung
30	chr15:78357000-78361000	Enhancers	Primary hematopoietic stem cells	blood
31	chr15:78357000-78363200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr15:78357200-78360800	Enhancers	Primary B cells from cord blood	blood
33	chr15:78357200-78363000	Enhancers	Primary B cells from peripheral blood	blood
34	chr15:78357400-78361200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:78357400-78361200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:78357400-78361800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:78357400-78364400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:78357400-78365000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr15:78357600-78362800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr15:78357600-78362800	Enhancers	Gastric	stomach
41	chr15:78357600-78363000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr15:78357600-78365200	Enhancers	Lung	lung
43	chr15:78357800-78360800	Enhancers	NHDF-Ad	bronchial
44	chr15:78357800-78361600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:78357800-78361600	Enhancers	Aorta	Aorta
46	chr15:78358000-78360800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr15:78358000-78360800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:78358000-78361000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:78358000-78361400	Enhancers	Thymus	Thymus
50	chr15:78358000-78362800	Enhancers	HUES48 Cell Line	embryonic stem cell

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