Variant report

Variant	rs7182455
Chromosome Location	chr15:100014534-100014535
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	MAFK	chr15:100014498-100014769	H1-hESC	embryonic stem cell:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014625-100014636 chr15:100014625-100014636 chr15:100014626-100014637
2	MAFK	chr15:100014305-100014823	HepG2	liver:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014390-100014406 chr15:100014391-100014405 chr15:100014625-100014636 chr15:100014388-100014408 chr15:100014394-100014404 chr15:100014625-100014636 chr15:100014626-100014637
3	ELF1	chr15:100014321-100014782	GM12878	blood:	n/a	n/a
4	MAFF	chr15:100014451-100014813	HepG2	liver:	n/a	chr15:100014623-100014641
5	MAFK	chr15:100014442-100014822	HepG2	liver:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014625-100014636 chr15:100014625-100014636 chr15:100014626-100014637
6	MAFK	chr15:100014316-100014822	IMR90	lung:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014390-100014406 chr15:100014391-100014405 chr15:100014625-100014636 chr15:100014388-100014408 chr15:100014394-100014404 chr15:100014625-100014636 chr15:100014626-100014637
7	MAFK	chr15:100014374-100014828	GM12878	blood:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014390-100014406 chr15:100014391-100014405 chr15:100014625-100014636 chr15:100014388-100014408 chr15:100014394-100014404 chr15:100014625-100014636 chr15:100014626-100014637
8	MAFK	chr15:100014461-100014797	K562	blood:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014625-100014636 chr15:100014625-100014636 chr15:100014626-100014637
9	SPI1	chr15:100014446-100014752	GM12891	blood:	n/a	chr15:100014451-100014464 chr15:100014597-100014606

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99991338..99992840-chr15:100014340..100017006,2	MCF-7	breast:
2	chr15:100013320..100017207-chr15:100104527..100106980,4	MCF-7	breast:

Variant related genes	Relation type
MEF2A	TF binding region
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10162745	1.00[AMR][1000 genomes]
rs4965509	0.81[AMR][1000 genomes]
rs61071401	0.90[AMR][1000 genomes]
rs61266622	1.00[AMR][1000 genomes]
rs7172693	0.81[AMR][1000 genomes]
rs7177568	0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv1050527	chr15:99983054-100035436	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv457278	chr15:100002468-100015179	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv570729	chr15:100002468-100015179	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100008200-100020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:100008400-100016600	Weak transcription	Hela-S3	cervix
3	chr15:100012200-100015800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr15:100012400-100018200	Enhancers	Stomach Mucosa	stomach
5	chr15:100012400-100018600	Enhancers	Spleen	Spleen
6	chr15:100012400-100018800	Enhancers	Right Atrium	heart
7	chr15:100012600-100015600	Enhancers	Ovary	ovary
8	chr15:100012600-100016000	Weak transcription	Small Intestine	intestine
9	chr15:100012600-100018600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr15:100012600-100019000	Enhancers	Fetal Heart	heart
11	chr15:100012800-100015400	Weak transcription	NHEK	skin
12	chr15:100012800-100015600	Enhancers	Primary B cells from peripheral blood	blood
13	chr15:100012800-100016200	Weak transcription	NH-A	brain
14	chr15:100012800-100018800	Enhancers	Fetal Lung	lung
15	chr15:100013000-100014600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr15:100013000-100014800	Enhancers	GM12878-XiMat	blood
17	chr15:100013000-100015000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:100013000-100015200	Weak transcription	Pancreas	Pancrea
19	chr15:100013000-100015400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:100013000-100015600	Enhancers	Primary B cells from cord blood	blood
21	chr15:100013000-100015600	Enhancers	Brain Hippocampus Middle	brain
22	chr15:100013000-100018600	Enhancers	Right Ventricle	heart
23	chr15:100013000-100018800	Enhancers	Fetal Muscle Trunk	muscle
24	chr15:100013000-100019400	Enhancers	Fetal Thymus	thymus
25	chr15:100013200-100019000	Enhancers	Fetal Muscle Leg	muscle
26	chr15:100013600-100014800	Enhancers	Primary T cells from cord blood	blood
27	chr15:100013600-100014800	Enhancers	Primary hematopoietic stem cells	blood
28	chr15:100013600-100015000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:100013600-100016600	Enhancers	Stomach Smooth Muscle	stomach
30	chr15:100013600-100018400	Enhancers	Placenta	Placenta
31	chr15:100013600-100018400	Enhancers	Lung	lung
32	chr15:100013800-100015600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr15:100013800-100015800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr15:100013800-100016800	Enhancers	Adipose Nuclei	Adipose
35	chr15:100013800-100017000	Weak transcription	Gastric	stomach
36	chr15:100013800-100018200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr15:100013800-100018200	Enhancers	HMEC	breast
38	chr15:100014000-100014600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr15:100014000-100014600	Enhancers	NHDF-Ad	bronchial
40	chr15:100014000-100015000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr15:100014000-100016000	Weak transcription	Thymus	Thymus
42	chr15:100014000-100017000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr15:100014000-100017000	Enhancers	HSMM	muscle
44	chr15:100014000-100018600	Enhancers	HSMMtube	muscle
45	chr15:100014000-100019200	Enhancers	Fetal Stomach	stomach
46	chr15:100014200-100014800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr15:100014200-100014800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr15:100014200-100014800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:100014200-100014800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:100014200-100014800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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