Variant report

Variant	rs4858714
Chromosome Location	chr3:19930003-19930004
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	chr3:19928340..19930933-chr3:19988714..19991654,2	K562	blood:

Variant related genes	Relation type
ENSG00000144566	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10155054	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927871	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17180771	0.91[ASN][1000 genomes]
rs17574049	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1872737	1.00[ASN][1000 genomes]
rs2101390	1.00[ASN][1000 genomes]
rs3849533	0.91[ASN][1000 genomes]
rs3916092	1.00[ASN][1000 genomes]
rs4858712	1.00[ASN][1000 genomes]
rs4858713	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55669125	0.91[ASN][1000 genomes]
rs55829813	1.00[ASN][1000 genomes]
rs56004950	1.00[ASN][1000 genomes]
rs59572420	0.91[ASN][1000 genomes]
rs62279119	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279120	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279122	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279123	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279125	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279132	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279133	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279134	1.00[ASN][1000 genomes]
rs62279135	1.00[ASN][1000 genomes]
rs62279136	1.00[ASN][1000 genomes]
rs62279138	1.00[ASN][1000 genomes]
rs6550213	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66526230	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046020	1.00[ASN][1000 genomes]
rs9809548	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810613	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1004602	chr3:19031671-19930052	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv536511	chr3:19031671-19930052	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv433358	chr3:19547184-19996508	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv1828161	chr3:19547184-20062060	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv1826570	chr3:19579860-20077414	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1826254	chr3:19592688-20042834	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1003183	chr3:19671647-19948351	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4858714	EFHB	cis	lung	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19924200-19930200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:19927000-19930400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:19927000-19930600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:19927400-19930400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:19927400-19941200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:19927600-19930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:19928200-19930600	Weak transcription	Ovary	ovary
8	chr3:19929600-19930200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:19929600-19930400	Enhancers	HUVEC	blood vessel
10	chr3:19929600-19931800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr3:19929800-19930400	Enhancers	NHEK	skin
12	chr3:19930000-19930200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:19930000-19930200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:19930000-19930200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:19930000-19930200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr3:19930000-19930200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr3:19930000-19930200	Enhancers	K562	blood
18	chr3:19930000-19930400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:19930000-19930400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:19930000-19930400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:19930000-19930400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:19930000-19930400	Enhancers	Brain Substantia Nigra	brain
23	chr3:19930000-19930400	Enhancers	Duodenum Mucosa	Duodenum
24	chr3:19930000-19930400	Enhancers	Small Intestine	intestine
25	chr3:19930000-19930400	Enhancers	Hela-S3	cervix
26	chr3:19930000-19930400	Enhancers	NH-A	brain
27	chr3:19930000-19930400	Enhancers	NHDF-Ad	bronchial
28	chr3:19930000-19930400	Enhancers	NHLF	lung
29	chr3:19930000-19930400	Enhancers	Osteobl	bone
30	chr3:19930000-19930600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:19930000-19930600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:19930000-19930600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr3:19930000-19930600	Enhancers	Fetal Lung	lung
34	chr3:19930000-19930600	Enhancers	Gastric	stomach
35	chr3:19930000-19930600	Enhancers	Stomach Smooth Muscle	stomach
36	chr3:19930000-19930600	Flanking Active TSS	A549	lung
37	chr3:19930000-19931000	Enhancers	Aorta	Aorta
38	chr3:19930000-19931200	Enhancers	HMEC	breast
39	chr3:19930000-19931400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:19930000-19931400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:19930000-19931600	Enhancers	Fetal Intestine Small	intestine
42	chr3:19930000-19931600	Enhancers	HSMM	muscle
43	chr3:19930000-19932000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr3:19930000-19932800	Enhancers	Fetal Stomach	stomach

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