Variant report

Variant	rs28537381
Chromosome Location	chr15:44220369-44220370
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	TEAD4	chr15:44220266-44220810	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr15:44220213-44220857	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr15:44220243-44220813	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr15:44220095-44220949	H1-hESC	embryonic stem cell:	n/a	chr15:44220803-44220810 chr15:44220355-44220365
5	ZNF143	chr15:44220165-44220754	H1-hESC	embryonic stem cell:	n/a	n/a
6	EP300	chr15:44220253-44220632	H1-hESC	embryonic stem cell:	n/a	n/a
7	HDAC2	chr15:44220340-44220623	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFK	chr15:44220165-44220623	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr15:44220314-44220861	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr15:44220283-44220840	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr15:44220210-44220598	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr15:44220253-44220751	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF7	chr15:44220249-44220791	H1-hESC	embryonic stem cell:	n/a	n/a
14	NANOG	chr15:44220231-44220633	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr15:44220234-44220813	H1-hESC	embryonic stem cell:	n/a	chr15:44220714-44220722
16	MAX	chr15:44220201-44220928	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL11A	chr15:44220253-44220614	H1-hESC	embryonic stem cell:	n/a	n/a
18	SP1	chr15:44220133-44220805	H1-hESC	embryonic stem cell:	n/a	chr15:44220493-44220504 chr15:44220353-44220367
19	EP300	chr15:44220125-44220878	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr15:44220221-44220814	H1-hESC	embryonic stem cell:	n/a	chr15:44220803-44220810 chr15:44220355-44220365
21	YY1	chr15:44220230-44220886	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr15:44220174-44220797	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP1	chr15:44220170-44220793	H1-hESC	embryonic stem cell:	n/a	chr15:44220493-44220504 chr15:44220353-44220367
24	BCL11A	chr15:44220280-44220581	H1-hESC	embryonic stem cell:	n/a	n/a
25	NANOG	chr15:44220185-44220617	H1-hESC	embryonic stem cell:	n/a	n/a
26	YY1	chr15:44220257-44220728	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr15:44220313-44220757	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr15:44220209-44220453	H1-hESC	embryonic stem cell:	n/a	n/a
29	HDAC2	chr15:44220204-44220757	H1-hESC	embryonic stem cell:	n/a	n/a
30	TBP	chr15:44220357-44220771	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr15:44220220-44220899	H1-hESC	embryonic stem cell:	n/a	chr15:44220356-44220366
32	JUN	chr15:44220094-44220615	H1-hESC	embryonic stem cell:	n/a	n/a
33	EGR1	chr15:44220213-44220654	H1-hESC	embryonic stem cell:	n/a	chr15:44220495-44220508
34	SIN3A	chr15:44220200-44220956	H1-hESC	embryonic stem cell:	n/a	chr15:44220825-44220835 chr15:44220337-44220346

Variant related genes	Relation type
FRMD5	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2059625	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2555377	1.00[EUR][1000 genomes]
rs2733225	1.00[EUR][1000 genomes]
rs2899104	1.00[EUR][1000 genomes]
rs2929276	1.00[EUR][1000 genomes]
rs2930527	1.00[EUR][1000 genomes]
rs2930532	1.00[EUR][1000 genomes]
rs2930534	1.00[EUR][1000 genomes]
rs35093130	1.00[EUR][1000 genomes]
rs475758	1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs483165	1.00[EUR][1000 genomes]
rs4924721	1.00[EUR][1000 genomes]
rs494774	1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs612258	1.00[EUR][1000 genomes]
rs656473	1.00[EUR][1000 genomes]
rs7171948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 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	chr15:44208800-44222600	Weak transcription	Fetal Brain Female	brain
2	chr15:44211800-44221800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr15:44211800-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:44212400-44220600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:44212400-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:44213400-44221600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:44214000-44221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:44214000-44224400	Weak transcription	Right Atrium	heart
9	chr15:44214400-44224000	Weak transcription	HSMMtube	muscle
10	chr15:44215800-44221400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:44216400-44220600	Weak transcription	Brain Anterior Caudate	brain
12	chr15:44216600-44222200	Weak transcription	NH-A	brain
13	chr15:44217600-44220600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr15:44217800-44220800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:44217800-44223200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr15:44217800-44223200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr15:44217800-44223200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:44218000-44220800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr15:44218000-44220800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr15:44218000-44221800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:44218000-44223200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:44218000-44225600	Enhancers	Fetal Heart	heart
23	chr15:44218200-44222200	Weak transcription	NHDF-Ad	bronchial
24	chr15:44218200-44222200	Weak transcription	NHLF	lung
25	chr15:44218400-44222200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:44218600-44220400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:44218600-44228400	Enhancers	Brain Substantia Nigra	brain
28	chr15:44218800-44220800	Weak transcription	Brain Angular Gyrus	brain
29	chr15:44218800-44220800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:44219600-44220400	Weak transcription	Brain Hippocampus Middle	brain
31	chr15:44219600-44220600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:44219600-44220800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:44219600-44221200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:44219600-44225000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:44219600-44225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:44219800-44220400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr15:44219800-44220800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr15:44219800-44221000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr15:44219800-44222200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:44219800-44223200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr15:44219800-44225200	Weak transcription	NHEK	skin
42	chr15:44220200-44220600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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