Variant report

Variant	rs72642550
Chromosome Location	chr14:31699494-31699495
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31674688..31677342-chr14:31695675..31700242,4	MCF-7	breast:
2	chr14:31699229..31701573-chr14:31702357..31705028,3	K562	blood:
3	chr14:31698614..31700267-chr14:31888206..31890598,2	K562	blood:
4	chr14:31699266..31701573-chr14:31703319..31705058,3	K562	blood:
5	chr14:31688070..31689586-chr14:31697544..31699857,2	K562	blood:
6	chr14:31698921..31699863-chr14:31709132..31710049,2	Hela-S3	cervix:
7	chr14:31674995..31680040-chr14:31697468..31701447,9	K562	blood:
8	chr14:31697845..31699989-chr14:31707051..31710155,3	MCF-7	breast:
9	chr14:31680131..31682350-chr14:31698979..31700901,2	K562	blood:
10	chr14:31698046..31700432-chr14:31824994..31826810,2	K562	blood:
11	chr14:31675512..31678502-chr14:31699131..31702134,3	MCF-7	breast:
12	chr14:31675302..31679070-chr14:31697096..31701615,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250365	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12590908	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4378534	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59419511	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72642548	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72642549	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72642551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72642552	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31697000-31699800	Enhancers	Fetal Intestine Small	intestine
2	chr14:31697400-31699800	Enhancers	HMEC	breast
3	chr14:31697600-31699800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:31697600-31699800	Enhancers	Fetal Intestine Large	intestine
5	chr14:31698400-31699600	Enhancers	Placenta	Placenta
6	chr14:31698600-31699600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr14:31698600-31702600	Weak transcription	Fetal Heart	heart
8	chr14:31698800-31699600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:31698800-31699600	Active TSS	Brain Hippocampus Middle	brain
10	chr14:31698800-31699800	Active TSS	A549	lung
11	chr14:31699000-31699600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:31699000-31699600	Active TSS	Adipose Nuclei	Adipose
13	chr14:31699000-31699600	Active TSS	K562	blood
14	chr14:31699000-31699800	Active TSS	Hela-S3	cervix
15	chr14:31699000-31700200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:31699000-31700600	Weak transcription	Stomach Mucosa	stomach
17	chr14:31699200-31699600	Flanking Active TSS	Liver	Liver
18	chr14:31699200-31699600	Flanking Active TSS	HepG2	liver
19	chr14:31699200-31700000	Enhancers	NHEK	skin
20	chr14:31699400-31699600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:31699400-31699600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:31699400-31699600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:31699400-31699600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:31699400-31699600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:31699400-31699800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:31699400-31699800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:31699400-31701000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:31699400-31701200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:31699400-31701400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:31699400-31702800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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