Variant report

Variant	rs28718997
Chromosome Location	chr15:79282479-79282480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79277578..79279918-chr15:79282302..79283905,2	K562	blood:
2	chr15:79276962..79279536-chr15:79281600..79283926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000058335	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12101364	1.00[EUR][1000 genomes]
rs16970387	0.81[EUR][1000 genomes]
rs28368520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28391216	1.00[EUR][1000 genomes]
rs28407629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28427472	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28461937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28501391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28501618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28513164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28516885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28546944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28547879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28549817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28557276	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28565526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28567804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28587174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28603308	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28624404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28651192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28674868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28683537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28705105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28709904	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28716558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28722773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28738778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9920807	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904433	chr15:79243571-79310288	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79244000-79288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:79272200-79284400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:79272400-79286400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:79276400-79288600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:79276400-79309200	Weak transcription	Right Atrium	heart
6	chr15:79277600-79284000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:79278400-79290400	Enhancers	Fetal Intestine Small	intestine
8	chr15:79279400-79287000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:79279600-79291000	Enhancers	Fetal Intestine Large	intestine
10	chr15:79279800-79282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:79279800-79285600	Enhancers	HepG2	liver
12	chr15:79280000-79283000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:79280000-79283800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:79280000-79286800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:79280200-79282600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr15:79280200-79282800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:79280200-79282800	Enhancers	Adipose Nuclei	Adipose
18	chr15:79280200-79283200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr15:79280200-79285000	Enhancers	HSMM	muscle
20	chr15:79280200-79286000	Enhancers	HSMMtube	muscle
21	chr15:79280200-79286400	Enhancers	Placenta	Placenta
22	chr15:79280400-79282600	Enhancers	NH-A	brain
23	chr15:79280400-79283000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:79280400-79283000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr15:79280400-79283200	Enhancers	Colon Smooth Muscle	Colon
26	chr15:79280400-79284400	Weak transcription	Small Intestine	intestine
27	chr15:79280600-79282600	Enhancers	Osteobl	bone
28	chr15:79280600-79284200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:79280600-79284200	Enhancers	Rectal Smooth Muscle	rectum
30	chr15:79280600-79284400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:79280800-79284600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:79280800-79285000	Weak transcription	Brain Anterior Caudate	brain
33	chr15:79280800-79285200	Weak transcription	Pancreas	Pancrea
34	chr15:79281000-79283600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr15:79281400-79283600	Enhancers	Fetal Stomach	stomach
36	chr15:79281400-79284800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:79281400-79286800	Weak transcription	Fetal Kidney	kidney
38	chr15:79281600-79285000	Weak transcription	HUVEC	blood vessel
39	chr15:79281600-79290200	Weak transcription	Brain Substantia Nigra	brain
40	chr15:79281800-79282600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr15:79281800-79284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:79281800-79284000	Weak transcription	Lung	lung
43	chr15:79281800-79284400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr15:79281800-79284600	Weak transcription	GM12878-XiMat	blood
45	chr15:79281800-79285000	Weak transcription	Colonic Mucosa	Colon
46	chr15:79281800-79285400	Weak transcription	Fetal Lung	lung
47	chr15:79281800-79285400	Weak transcription	Gastric	stomach
48	chr15:79281800-79296000	Weak transcription	Primary B cells from cord blood	blood
49	chr15:79281800-79296600	Weak transcription	Esophagus	oesophagus
50	chr15:79281800-79296600	Weak transcription	Rectal Mucosa Donor 31	rectum

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