Variant report

Variant	rs11072704
Chromosome Location	chr15:78266353-78266354
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	POLR2A	chr15:78266104-78266623	Hela-S3	cervix:	n/a	n/a
2	MAX	chr15:78266283-78266887	Hela-S3	cervix:	n/a	chr15:78266723-78266732 chr15:78266722-78266733 chr15:78266723-78266732 chr15:78266724-78266733 chr15:78266724-78266731 chr15:78266721-78266734 chr15:78266723-78266733 chr15:78266722-78266732 chr15:78266722-78266733
3	POLR2A	chr15:78266343-78266627	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr15:78266346-78267214	IMR90	lung:	n/a	n/a
5	CEBPB	chr15:78266344-78266669	Hela-S3	cervix:	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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11631951	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11852862	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12438168	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4243072	0.88[AMR][1000 genomes]
rs4371120	0.87[ASN][1000 genomes]
rs4509985	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4514641	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886551	0.86[AMR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78258800-78275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:78264000-78266400	Weak transcription	Fetal Brain Female	brain
3	chr15:78264000-78269200	Enhancers	Fetal Muscle Leg	muscle
4	chr15:78264200-78268200	Enhancers	Fetal Muscle Trunk	muscle
5	chr15:78264400-78266800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:78264600-78266400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:78265400-78267600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:78265600-78268400	Enhancers	Fetal Brain Male	brain
9	chr15:78266000-78267200	Enhancers	Brain Hippocampus Middle	brain
10	chr15:78266000-78267400	Enhancers	Fetal Stomach	stomach
11	chr15:78266000-78268000	Enhancers	Adipose Nuclei	Adipose
12	chr15:78266000-78268000	Enhancers	HSMMtube	muscle
13	chr15:78266000-78268200	Enhancers	Stomach Smooth Muscle	stomach
14	chr15:78266000-78268400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr15:78266000-78268800	Enhancers	Fetal Heart	heart
16	chr15:78266200-78266400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:78266200-78266400	Flanking Active TSS	Osteobl	bone
18	chr15:78266200-78266600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:78266200-78266600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr15:78266200-78266600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr15:78266200-78266600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr15:78266200-78266600	Flanking Active TSS	HSMM	muscle
23	chr15:78266200-78266600	Enhancers	HUVEC	blood vessel
24	chr15:78266200-78266600	Enhancers	NHEK	skin
25	chr15:78266200-78266800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:78266200-78266800	Enhancers	Fetal Intestine Large	intestine
27	chr15:78266200-78266800	Enhancers	Gastric	stomach
28	chr15:78266200-78266800	Enhancers	HMEC	breast
29	chr15:78266200-78267000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr15:78266200-78267000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:78266200-78267200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:78266200-78267200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:78266200-78267200	Enhancers	Brain Angular Gyrus	brain
34	chr15:78266200-78267200	Enhancers	Brain Cingulate Gyrus	brain
35	chr15:78266200-78267200	Enhancers	Brain Substantia Nigra	brain
36	chr15:78266200-78267200	Enhancers	Duodenum Mucosa	Duodenum
37	chr15:78266200-78267200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr15:78266200-78267200	Enhancers	Stomach Mucosa	stomach
39	chr15:78266200-78267200	Flanking Active TSS	Hela-S3	cervix
40	chr15:78266200-78267200	Enhancers	NHDF-Ad	bronchial
41	chr15:78266200-78267400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:78266200-78267600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr15:78266200-78267800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:78266200-78267800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr15:78266200-78267800	Enhancers	Colonic Mucosa	Colon
46	chr15:78266200-78268000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:78266200-78268200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr15:78266200-78268200	Enhancers	Psoas Muscle	Psoas
49	chr15:78266200-78268200	Enhancers	Spleen	Spleen
50	chr15:78266200-78268200	Enhancers	NHLF	lung

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