Variant report

Variant	rs28472502
Chromosome Location	chr14:78075193-78075194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78065290..78070188-chr14:78072894..78075904,4	K562	blood:
2	chr14:78072044..78075600-chr14:78081551..78084450,6	K562	blood:
3	chr14:78072769..78075588-chr14:78081350..78084450,3	K562	blood:
4	chr14:78071276..78074499-chr14:78074506..78077837,3	K562	blood:

Variant related genes	Relation type
ENSG00000100596	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10139852	0.80[ASN][1000 genomes]
rs10140195	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10148189	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10148244	0.80[ASN][1000 genomes]
rs10162458	0.82[ASN][1000 genomes]
rs11626892	0.82[ASN][1000 genomes]
rs12432164	0.90[ASN][1000 genomes]
rs12587835	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13379058	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176897	0.98[ASN][1000 genomes]
rs176898	0.98[ASN][1000 genomes]
rs176901	0.97[ASN][1000 genomes]
rs176903	0.98[ASN][1000 genomes]
rs176907	0.95[ASN][1000 genomes]
rs1990806	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299922	0.92[ASN][1000 genomes]
rs2299927	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299929	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28460392	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58598324	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7157536	0.90[ASN][1000 genomes]
rs7158771	0.92[ASN][1000 genomes]
rs8018203	0.80[ASN][1000 genomes]
rs9944097	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
2	chr14:78057600-78081400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:78063200-78077800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:78063400-78081600	Weak transcription	Fetal Stomach	stomach
5	chr14:78065600-78081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:78066000-78079600	Weak transcription	Dnd41	blood
7	chr14:78066800-78078400	Weak transcription	NHLF	lung
8	chr14:78067000-78078200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:78069200-78081600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:78070000-78075600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr14:78070200-78081600	Weak transcription	Liver	Liver
12	chr14:78070400-78075800	Weak transcription	Lung	lung
13	chr14:78070400-78078200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:78070400-78078400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:78070400-78079800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:78070400-78081400	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:78070600-78076800	Weak transcription	HSMM	muscle
18	chr14:78070600-78077800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:78070600-78077800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:78070600-78078200	Weak transcription	NH-A	brain
21	chr14:78070600-78078200	Weak transcription	Osteobl	bone
22	chr14:78070600-78078400	Weak transcription	NHDF-Ad	bronchial
23	chr14:78070600-78081400	Weak transcription	Ovary	ovary
24	chr14:78070600-78081600	Weak transcription	Esophagus	oesophagus
25	chr14:78070800-78075400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:78070800-78076800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:78071200-78075600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr14:78071200-78075600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr14:78071400-78076800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr14:78071600-78076200	Enhancers	Primary B cells from peripheral blood	blood
31	chr14:78072200-78078200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:78072200-78078400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:78072400-78077800	Weak transcription	A549	lung
34	chr14:78072400-78081200	Weak transcription	Fetal Heart	heart
35	chr14:78072400-78081600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:78072600-78078400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr14:78072800-78078200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:78072800-78078400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:78072800-78081400	Weak transcription	Colonic Mucosa	Colon
40	chr14:78073000-78077200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:78073000-78078400	Weak transcription	HepG2	liver
42	chr14:78073400-78078400	Weak transcription	Small Intestine	intestine
43	chr14:78073400-78081600	Weak transcription	Psoas Muscle	Psoas
44	chr14:78073600-78075200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:78073600-78075600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr14:78073600-78076000	Enhancers	Brain Substantia Nigra	brain
47	chr14:78074000-78075200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr14:78074000-78076200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr14:78074000-78076600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:78074200-78075200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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