Variant report

Variant	rs28637251
Chromosome Location	chr14:31926472-31926473
allele	G/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31926128..31926628-chr21:34851837..34852441,2	HCT-116	colon:
2	chr14:31872181..31874850-chr14:31924970..31926788,2	K562	blood:
3	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
4	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:
5	chr14:31676519..31677499-chr14:31926219..31927033,2	HCT-116	colon:
6	chr14:31926057..31926979-chr20:2632755..2633485,2	NB4	blood:
7	chr11:65189842..65190451-chr14:31926170..31926697,2	Hela-S3	cervix:
8	chr14:31925687..31926473-chr17:8076447..8076967,2	Hela-S3	cervix:
9	chr14:31494077..31496185-chr14:31924915..31927180,2	K562	blood:
10	chr14:31923625..31927013-chr14:32030157..32032112,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221062	Chromatin interaction
ENSG00000250365	Chromatin interaction
ENSG00000196792	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000101361	Chromatin interaction
ENSG00000257155	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000151413	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000142188	Chromatin interaction
ENSG00000100478	Chromatin interaction
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10129177	0.85[AFR][1000 genomes]
rs10130006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130507	0.87[AFR][1000 genomes]
rs10135068	0.81[AFR][1000 genomes]
rs10136175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146567	0.94[AFR][1000 genomes]
rs10150602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151215	0.81[AFR][1000 genomes]
rs28548120	0.81[AFR][1000 genomes]
rs28623024	0.81[AFR][1000 genomes]
rs58291808	0.81[AFR][1000 genomes]
rs61414525	0.82[AFR][1000 genomes]
rs7359020	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	32 gene(s)	inside rSNPs	diseases
5	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv456198	chr14:31919728-31972289	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv564179	chr14:31919728-31972289	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31925000-31927000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:31925000-31927000	Active TSS	A549	lung
3	chr14:31925000-31927000	Active TSS	Hela-S3	cervix
4	chr14:31925200-31926800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr14:31925200-31926800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:31925200-31927000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr14:31925200-31927000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr14:31925200-31927000	Active TSS	Brain Angular Gyrus	brain
9	chr14:31925200-31927000	Active TSS	Rectal Smooth Muscle	rectum
10	chr14:31925200-31927200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:31925200-31927200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr14:31925200-31927200	Active TSS	Brain Hippocampus Middle	brain
13	chr14:31925200-31927200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr14:31925200-31927200	Active TSS	NHLF	lung
15	chr14:31925200-31927400	Active TSS	K562	blood
16	chr14:31925200-31927600	Active TSS	Brain Germinal Matrix	brain
17	chr14:31925200-31927600	Active TSS	Stomach Smooth Muscle	stomach
18	chr14:31925200-31927800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:31925400-31926800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:31925400-31926800	Active TSS	Muscle Satellite Cultured Cells	--
21	chr14:31925400-31927000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr14:31925400-31927000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:31925400-31927000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:31925400-31927000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:31925400-31927000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:31925400-31927000	Active TSS	Brain Anterior Caudate	brain
27	chr14:31925400-31927000	Active TSS	Ovary	ovary
28	chr14:31925400-31927000	Active TSS	GM12878-XiMat	blood
29	chr14:31925400-31927000	Active TSS	HSMM	muscle
30	chr14:31925400-31927000	Active TSS	HSMMtube	muscle
31	chr14:31925400-31927000	Active TSS	NHEK	skin
32	chr14:31925400-31927000	Active TSS	Osteobl	bone
33	chr14:31925400-31927200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr14:31925400-31927200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:31925400-31927200	Active TSS	Adipose Nuclei	Adipose
36	chr14:31925400-31927400	Active TSS	Brain Substantia Nigra	brain
37	chr14:31925400-31927400	Active TSS	Duodenum Mucosa	Duodenum
38	chr14:31925600-31926800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:31925600-31926800	Bivalent/Poised TSS	HepG2	liver
40	chr14:31925600-31927000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr14:31925600-31927000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:31925600-31927000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:31925600-31927000	Active TSS	Psoas Muscle	Psoas
44	chr14:31925600-31927000	Active TSS	NH-A	brain
45	chr14:31925600-31927200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr14:31925600-31927200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:31925600-31927200	Active TSS	Fetal Kidney	kidney
48	chr14:31925600-31927200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr14:31925600-31927200	Active TSS	Fetal Muscle Leg	muscle
50	chr14:31925600-31927200	Active TSS	HMEC	breast

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