Variant report

Variant	rs34073905
Chromosome Location	chr15:75416125-75416126
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	EP300	chr15:75415774-75416257	K562	blood:	n/a	n/a
2	MAFK	chr15:75415743-75416216	Hela-S3	cervix:	n/a	chr15:75415899-75415914
3	POLR2A	chr15:75415653-75416304	SK-N-MC	brain:	n/a	n/a
4	MAFK	chr15:75415721-75416130	IMR90	lung:	n/a	chr15:75415899-75415914
5	FOSL2	chr15:75415632-75416335	A549	lung:	n/a	n/a
6	GATA3	chr15:75415703-75416412	A549	lung:	n/a	n/a
7	BACH1	chr15:75415758-75416231	K562	blood:	n/a	n/a
8	IRF1	chr15:75415753-75416158	K562	blood:	n/a	n/a
9	REST	chr15:75415731-75416465	A549	lung:	n/a	n/a
10	MAFF	chr15:75415722-75416302	K562	blood:	n/a	chr15:75415897-75415915
11	TCF12	chr15:75415623-75416469	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75416113..75419586-chr15:75420394..75423438,3	K562	blood:

Variant related genes	Relation type
ENSG00000252722	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12899456	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12905302	0.84[EUR][1000 genomes]
rs12906126	1.00[AFR][1000 genomes]
rs12910578	0.82[EUR][1000 genomes]
rs12914662	1.00[ASN][1000 genomes]
rs16966775	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17336944	0.87[AFR][1000 genomes]
rs34025186	0.87[AFR][1000 genomes]
rs34820454	1.00[AFR][1000 genomes]
rs35375675	0.87[AFR][1000 genomes]
rs35396991	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs71401669	0.87[AFR][1000 genomes]
rs71401671	0.87[AFR][1000 genomes]
rs71401673	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs71401675	0.84[EUR][1000 genomes]
rs71401676	0.84[EUR][1000 genomes]
rs71401677	0.84[EUR][1000 genomes]
rs71401683	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71434254	0.81[AMR][1000 genomes]
rs7177045	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75401200-75430600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:75412800-75433600	Weak transcription	Aorta	Aorta
3	chr15:75413200-75416600	Weak transcription	Placenta	Placenta
4	chr15:75413600-75416600	Weak transcription	Lung	lung
5	chr15:75414800-75419200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:75415000-75425400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr15:75415200-75416800	Enhancers	NHDF-Ad	bronchial
8	chr15:75415400-75423000	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:75415600-75416600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:75415600-75416600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr15:75415600-75419800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:75415800-75416400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:75415800-75416400	Flanking Active TSS	A549	lung
14	chr15:75415800-75416600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:75415800-75416600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr15:75415800-75416800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:75415800-75416800	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr15:75415800-75417000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr15:75415800-75417400	Enhancers	K562	blood
20	chr15:75415800-75417600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:75415800-75417600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:75415800-75417600	Enhancers	Ovary	ovary
23	chr15:75415800-75417800	Enhancers	HepG2	liver
24	chr15:75415800-75422200	Enhancers	GM12878-XiMat	blood
25	chr15:75416000-75416200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:75416000-75416200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr15:75416000-75416200	Enhancers	Hela-S3	cervix
28	chr15:75416000-75416400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr15:75416000-75416400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:75416000-75416400	Enhancers	HSMM	muscle
31	chr15:75416000-75416400	Enhancers	HSMMtube	muscle
32	chr15:75416000-75416400	Enhancers	NH-A	brain
33	chr15:75416000-75416600	Enhancers	NHLF	lung
34	chr15:75416000-75416600	Enhancers	Osteobl	bone
35	chr15:75416000-75416800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:75416000-75416800	Enhancers	Liver	Liver
37	chr15:75416000-75417000	Enhancers	HMEC	breast
38	chr15:75416000-75417600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr15:75416000-75417800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr15:75416000-75417800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:75416000-75419800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr15:75416000-75420000	Enhancers	Primary B cells from cord blood	blood

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