Variant report

Variant	rs8028378
Chromosome Location	chr15:78386264-78386265
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	RCOR1	chr15:78384936-78386396	IMR90	lung:	n/a	n/a
2	EP300	chr15:78385455-78386318	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr15:78385239-78386355	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr15:78385335-78386272	SK-N-SH	brain:	n/a	chr15:78385526-78385534
5	NFIC	chr15:78385384-78386268	SK-N-SH	brain:	n/a	n/a
6	EP300	chr15:78385394-78386307	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr15:78385438-78386336	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr15:78385254-78386371	SK-N-SH	brain:	n/a	n/a
9	TEAD4	chr15:78385445-78386284	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000199633	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1079396	0.82[MEX][hapmap]
rs11633292	0.96[YRI][hapmap];0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78380200-78386400	Enhancers	Stomach Mucosa	stomach
2	chr15:78382400-78386800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:78383000-78386600	Enhancers	Fetal Lung	lung
4	chr15:78383200-78387200	Enhancers	Fetal Intestine Small	intestine
5	chr15:78383400-78386800	Enhancers	Fetal Muscle Leg	muscle
6	chr15:78383800-78386600	Enhancers	Right Ventricle	heart
7	chr15:78383800-78386600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr15:78384000-78386600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr15:78384000-78387000	Enhancers	Fetal Stomach	stomach
10	chr15:78384200-78386400	Enhancers	Left Ventricle	heart
11	chr15:78384200-78387000	Enhancers	HSMM	muscle
12	chr15:78384600-78386400	Enhancers	Colonic Mucosa	Colon
13	chr15:78384600-78386400	Enhancers	Fetal Thymus	thymus
14	chr15:78384600-78386600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:78384600-78386600	Enhancers	Placenta	Placenta
16	chr15:78384600-78386600	Enhancers	Ovary	ovary
17	chr15:78384600-78387200	Enhancers	Fetal Intestine Large	intestine
18	chr15:78384600-78387200	Enhancers	Stomach Smooth Muscle	stomach
19	chr15:78384600-78387200	Enhancers	HSMMtube	muscle
20	chr15:78384800-78386600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:78385000-78386400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr15:78385000-78386600	Enhancers	NHLF	lung
23	chr15:78385000-78386800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:78385000-78386800	Enhancers	Fetal Muscle Trunk	muscle
25	chr15:78385000-78386800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr15:78385200-78386400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:78385200-78386400	Weak transcription	Lung	lung
28	chr15:78385200-78386400	Enhancers	Rectal Smooth Muscle	rectum
29	chr15:78385200-78386400	Enhancers	NH-A	brain
30	chr15:78385200-78386600	Enhancers	NHDF-Ad	bronchial
31	chr15:78385200-78387200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:78385200-78400600	Weak transcription	Pancreas	Pancrea
33	chr15:78385400-78386400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:78385600-78386400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:78385600-78386400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr15:78385600-78386600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:78385600-78386600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr15:78385600-78386600	Weak transcription	Small Intestine	intestine
39	chr15:78385600-78386800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr15:78385600-78395400	Weak transcription	Spleen	Spleen
41	chr15:78385800-78386600	Weak transcription	Right Atrium	heart
42	chr15:78386200-78396000	Weak transcription	Gastric	stomach

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