Variant report

Variant	rs16969464
Chromosome Location	chr15:78362979-78362980
allele	A/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	NR3C1	chr15:78362593-78363029	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78354817..78358592-chr15:78361208..78364275,3	MCF-7	breast:
2	chr15:78362119..78363904-chr15:78366538..78368474,2	MCF-7	breast:

Variant related genes	Relation type
TBC1D2B	TF binding region
ENSG00000167202	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11858138	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1442293	0.82[YRI][hapmap]
rs16953970	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes]
rs16969397	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs1837913	0.82[YRI][hapmap]
rs57993009	1.00[AMR][1000 genomes]
rs58416217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59499270	1.00[AMR][1000 genomes]
rs60031052	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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8030999	0.87[CHB][hapmap];0.96[CHD][hapmap]

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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78347400-78367800	Enhancers	Placenta	Placenta
2	chr15:78354200-78363200	Enhancers	Fetal Intestine Large	intestine
3	chr15:78354200-78363200	Enhancers	Stomach Mucosa	stomach
4	chr15:78354200-78366400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr15:78354600-78365400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr15:78354600-78366400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr15:78355000-78363200	Enhancers	Brain Substantia Nigra	brain
8	chr15:78355200-78364000	Enhancers	Dnd41	blood
9	chr15:78355600-78365400	Enhancers	Small Intestine	intestine
10	chr15:78355800-78363000	Enhancers	Spleen	Spleen
11	chr15:78355800-78363200	Enhancers	Right Atrium	heart
12	chr15:78355800-78364000	Enhancers	Fetal Muscle Leg	muscle
13	chr15:78356000-78363000	Enhancers	Brain Angular Gyrus	brain
14	chr15:78356000-78363800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:78356200-78363000	Enhancers	Fetal Stomach	stomach
16	chr15:78356400-78363000	Enhancers	Brain Cingulate Gyrus	brain
17	chr15:78357000-78363200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr15:78357200-78363000	Enhancers	Primary B cells from peripheral blood	blood
19	chr15:78357400-78364400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:78357400-78365000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr15:78357600-78363000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr15:78357600-78365200	Enhancers	Lung	lung
23	chr15:78358000-78363400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:78358400-78363000	Enhancers	NH-A	brain
25	chr15:78358400-78366000	Enhancers	HepG2	liver
26	chr15:78358600-78363000	Enhancers	Liver	Liver
27	chr15:78358600-78363200	Enhancers	Brain Hippocampus Middle	brain
28	chr15:78358600-78363200	Enhancers	Fetal Muscle Trunk	muscle
29	chr15:78358800-78363000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr15:78358800-78363200	Enhancers	HSMM	muscle
31	chr15:78358800-78367800	Weak transcription	HMEC	breast
32	chr15:78359000-78363000	Enhancers	A549	lung
33	chr15:78359400-78363200	Enhancers	Left Ventricle	heart
34	chr15:78359600-78363000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:78359600-78363000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr15:78359600-78363000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:78359600-78363200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:78359600-78363200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr15:78359800-78363000	Flanking Active TSS	GM12878-XiMat	blood
40	chr15:78359800-78363200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr15:78360000-78363000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr15:78360000-78363200	Enhancers	K562	blood
43	chr15:78360200-78363000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr15:78360200-78363000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:78360200-78363800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:78360600-78363000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr15:78360800-78363000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr15:78361000-78363000	Enhancers	Colonic Mucosa	Colon
49	chr15:78361000-78363200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr15:78361200-78363000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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