Variant report

Variant	rs1867091
Chromosome Location	chr15:100015597-100015598
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	E2F6	chr15:100015440-100015621	K562	blood:	n/a	chr15:100015518-100015525 chr15:100015517-100015526 chr15:100015518-100015525 chr15:100015514-100015526 chr15:100015518-100015525
2	E2F6	chr15:100015266-100015800	H1-hESC	embryonic stem cell:	n/a	chr15:100015518-100015525 chr15:100015517-100015526 chr15:100015518-100015525 chr15:100015514-100015526 chr15:100015518-100015525
3	YY1	chr15:100015277-100015615	HepG2	liver:	n/a	n/a
4	ZNF263	chr15:100015201-100015789	HEK293-T-REx	kidney:	n/a	n/a
5	MAX	chr15:100015411-100015676	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr15:100015318-100015635	H1-hESC	embryonic stem cell:	n/a	chr15:100015518-100015525 chr15:100015517-100015526 chr15:100015518-100015525 chr15:100015514-100015526 chr15:100015518-100015525

No.	Distal block	Cell Line	Cell type
1	chr15:99969769..99972522-chr15:100015171..100016752,2	MCF-7	breast:
2	chr15:100010923..100013098-chr15:100015221..100016776,2	MCF-7	breast:
3	chr15:99991338..99992840-chr15:100014340..100017006,2	MCF-7	breast:
4	chr15:100013320..100017207-chr15:100104527..100106980,4	MCF-7	breast:

Variant related genes	Relation type
MEF2A	TF binding region
ENSG00000259341	Chromatin interaction
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1020255	0.91[EUR][1000 genomes]
rs1020256	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10902545	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10902546	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10902547	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11630522	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11632243	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11632288	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11632631	0.86[EUR][1000 genomes]
rs11633249	0.95[EUR][1000 genomes]
rs11637736	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12903278	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12904009	0.94[EUR][1000 genomes]
rs12909847	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1442645	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1867092	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1867093	0.95[EUR][1000 genomes]
rs1867094	0.95[EUR][1000 genomes]
rs2119941	0.92[EUR][1000 genomes]
rs34457611	0.95[EUR][1000 genomes]
rs34666134	0.88[EUR][1000 genomes]
rs34974576	0.86[EUR][1000 genomes]
rs35015146	0.91[EUR][1000 genomes]
rs35395415	0.91[EUR][1000 genomes]
rs36112416	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4965251	0.91[EUR][1000 genomes]
rs56159751	0.91[EUR][1000 genomes]
rs56197704	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7167860	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7172915	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7180712	0.87[EUR][1000 genomes]
rs7181817	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:68 , 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	chr15:100012800-100015600	Enhancers	Primary B cells from peripheral blood	blood
12	chr15:100012800-100016200	Weak transcription	NH-A	brain
13	chr15:100012800-100018800	Enhancers	Fetal Lung	lung
14	chr15:100013000-100015600	Enhancers	Primary B cells from cord blood	blood
15	chr15:100013000-100015600	Enhancers	Brain Hippocampus Middle	brain
16	chr15:100013000-100018600	Enhancers	Right Ventricle	heart
17	chr15:100013000-100018800	Enhancers	Fetal Muscle Trunk	muscle
18	chr15:100013000-100019400	Enhancers	Fetal Thymus	thymus
19	chr15:100013200-100019000	Enhancers	Fetal Muscle Leg	muscle
20	chr15:100013600-100016600	Enhancers	Stomach Smooth Muscle	stomach
21	chr15:100013600-100018400	Enhancers	Placenta	Placenta
22	chr15:100013600-100018400	Enhancers	Lung	lung
23	chr15:100013800-100015600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr15:100013800-100015800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr15:100013800-100016800	Enhancers	Adipose Nuclei	Adipose
26	chr15:100013800-100017000	Weak transcription	Gastric	stomach
27	chr15:100013800-100018200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr15:100013800-100018200	Enhancers	HMEC	breast
29	chr15:100014000-100016000	Weak transcription	Thymus	Thymus
30	chr15:100014000-100017000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr15:100014000-100017000	Enhancers	HSMM	muscle
32	chr15:100014000-100018600	Enhancers	HSMMtube	muscle
33	chr15:100014000-100019200	Enhancers	Fetal Stomach	stomach
34	chr15:100014200-100016000	Enhancers	Psoas Muscle	Psoas
35	chr15:100014200-100016800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:100014400-100016400	Enhancers	Esophagus	oesophagus
37	chr15:100014400-100016800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:100014400-100017000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:100014400-100017000	Enhancers	NHLF	lung
40	chr15:100014600-100015600	Weak transcription	NHDF-Ad	bronchial
41	chr15:100014600-100016400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:100014600-100017400	Enhancers	Colonic Mucosa	Colon
43	chr15:100014800-100015600	Weak transcription	Primary T cells from cord blood	blood
44	chr15:100014800-100015600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:100014800-100016200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr15:100014800-100016200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:100014800-100016600	Weak transcription	GM12878-XiMat	blood
48	chr15:100014800-100016800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr15:100014800-100018800	Enhancers	Left Ventricle	heart
50	chr15:100014800-100020200	Enhancers	Primary monocytes fromperipheralblood	blood

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