Variant report

Variant	rs28694144
Chromosome Location	chr15:72566263-72566264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr15:72566173-72566297	GM12878	blood:	n/a	n/a
2	SMARCC2	chr15:72564204-72566355	Hela-S3	cervix:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72564706..72566745-chr15:72598121..72601390,3	K562	blood:
2	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
3	chr15:72519310..72525410-chr15:72562881..72568730,22	MCF-7	breast:
4	chr15:72563307..72566923-chr15:72766066..72767771,3	K562	blood:
5	chr15:72459821..72461687-chr15:72564383..72566445,2	MCF-7	breast:
6	chr15:72555118..72559591-chr15:72562362..72567008,6	MCF-7	breast:
7	chr15:72520024..72526293-chr15:72562525..72566333,14	K562	blood:
8	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
9	chr15:72564850..72566745-chr15:72598121..72600222,2	K562	blood:
10	chr15:72563307..72566923-chr15:72766066..72767771,5	K562	blood:
11	chr15:72565043..72567062-chr15:72568655..72571579,4	K562	blood:
12	chr15:72513653..72518363-chr15:72563063..72568184,5	MCF-7	breast:

No data

Variant related genes	Relation type
PARP6	TF binding region
ENSG00000261460	TF binding region
ENSG00000140488	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000175318	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000261460	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11072354	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072355	0.87[EUR][1000 genomes]
rs12438836	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12439392	1.00[ASN][1000 genomes]
rs12439580	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12440435	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12440927	0.87[EUR][1000 genomes]
rs12443329	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12591975	0.87[EUR][1000 genomes]
rs12592785	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12594297	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1426168	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16956723	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2288256	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28576571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959915	0.87[EUR][1000 genomes]
rs35949555	0.87[EUR][1000 genomes]
rs3803388	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4442765	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61481811	0.87[EUR][1000 genomes]
rs67849115	1.00[EUR][1000 genomes]
rs7161909	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7165735	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7167257	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8025332	0.87[EUR][1000 genomes]
rs8026894	0.87[ASN][1000 genomes]
rs8043345	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8192363	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8192381	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv1601	chr15:72549885-72585176	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72565600-72569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:72565800-72566400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr15:72565800-72566400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:72565800-72566400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:72565800-72566400	Enhancers	Thymus	Thymus
6	chr15:72565800-72566400	Enhancers	K562	blood
7	chr15:72565800-72568400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:72565800-72572600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:72566000-72566400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr15:72566000-72566400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr15:72566000-72566800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr15:72566000-72567000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr15:72566000-72567400	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:72566000-72567400	Weak transcription	HSMMtube	muscle
15	chr15:72566000-72567600	Weak transcription	HSMM	muscle
16	chr15:72566000-72567800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr15:72566000-72568600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:72566000-72568800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:72566000-72571000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:72566000-72573600	Weak transcription	Brain Anterior Caudate	brain
21	chr15:72566000-72573600	Weak transcription	Brain Substantia Nigra	brain
22	chr15:72566000-72575800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr15:72566000-72576400	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:72566000-72577800	Weak transcription	Fetal Intestine Small	intestine
25	chr15:72566000-72582400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
27	chr15:72566200-72566600	Enhancers	Dnd41	blood
28	chr15:72566200-72567400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:72566200-72573000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:72566200-72573600	Weak transcription	Brain Hippocampus Middle	brain
31	chr15:72566200-72577000	Weak transcription	Ovary	ovary
32	chr15:72566200-72577600	Weak transcription	Brain Angular Gyrus	brain
33	chr15:72566200-72578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:72566200-72579200	Weak transcription	Primary T cells from cord blood	blood

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