Variant report

Variant	rs4509985
Chromosome Location	chr15:78267370-78267371
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	POLR2A	chr15:78266766-78268302	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78266206..78268014-chr15:79069467..79071102,2	MCF-7	breast:

Variant related genes	Relation type
ADAMTS7P3	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11072704	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11631951	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11852862	0.82[AMR][1000 genomes]
rs4243072	0.82[AMR][1000 genomes]
rs4371120	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4514641	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78258800-78275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:78264000-78269200	Enhancers	Fetal Muscle Leg	muscle
3	chr15:78264200-78268200	Enhancers	Fetal Muscle Trunk	muscle
4	chr15:78265400-78267600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:78265600-78268400	Enhancers	Fetal Brain Male	brain
6	chr15:78266000-78267400	Enhancers	Fetal Stomach	stomach
7	chr15:78266000-78268000	Enhancers	Adipose Nuclei	Adipose
8	chr15:78266000-78268000	Enhancers	HSMMtube	muscle
9	chr15:78266000-78268200	Enhancers	Stomach Smooth Muscle	stomach
10	chr15:78266000-78268400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr15:78266000-78268800	Enhancers	Fetal Heart	heart
12	chr15:78266200-78267400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:78266200-78267600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr15:78266200-78267800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:78266200-78267800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr15:78266200-78267800	Enhancers	Colonic Mucosa	Colon
17	chr15:78266200-78268000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:78266200-78268200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr15:78266200-78268200	Enhancers	Psoas Muscle	Psoas
20	chr15:78266200-78268200	Enhancers	Spleen	Spleen
21	chr15:78266200-78268200	Enhancers	NHLF	lung
22	chr15:78266200-78268400	Enhancers	Colon Smooth Muscle	Colon
23	chr15:78266200-78268400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr15:78266200-78268400	Enhancers	Esophagus	oesophagus
25	chr15:78266200-78268400	Enhancers	Lung	lung
26	chr15:78266200-78268400	Enhancers	Ovary	ovary
27	chr15:78266200-78268400	Enhancers	Rectal Smooth Muscle	rectum
28	chr15:78266200-78268400	Enhancers	Right Atrium	heart
29	chr15:78266200-78268600	Enhancers	Fetal Lung	lung
30	chr15:78266200-78268600	Enhancers	Left Ventricle	heart
31	chr15:78266200-78268600	Enhancers	Right Ventricle	heart
32	chr15:78266200-78268800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:78266200-78272400	Enhancers	Placenta	Placenta
34	chr15:78266400-78268200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:78266400-78268200	Enhancers	Fetal Brain Female	brain
36	chr15:78266400-78268400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:78266400-78271800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:78266600-78268000	Enhancers	HSMM	muscle
39	chr15:78266600-78268200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr15:78266600-78268800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr15:78266800-78267600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:78266800-78268000	Weak transcription	Fetal Intestine Large	intestine
43	chr15:78266800-78268600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr15:78267200-78268200	Enhancers	Hela-S3	cervix
45	chr15:78267200-78269400	Weak transcription	NHDF-Ad	bronchial
46	chr15:78267200-78270000	Weak transcription	Duodenum Mucosa	Duodenum

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