Variant report

Variant	rs74048714
Chromosome Location	chr14:39673089-39673090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39659021..39661410-chr14:39671300..39673162,2	K562	blood:
2	chr14:39646608..39648322-chr14:39671644..39674321,2	K562	blood:
3	chr14:39669831..39673091-chr14:39734420..39737193,3	MCF-7	breast:
4	chr14:39652103..39654981-chr14:39673043..39674708,2	K562	blood:

Variant related genes	Relation type
ENSG00000258940	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000100941	Chromatin interaction
ENSG00000258941	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10136285	0.94[EUR][1000 genomes]
rs10136309	0.99[EUR][1000 genomes]
rs10138869	0.98[EUR][1000 genomes]
rs10149495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2093216	0.92[ASN][1000 genomes]
rs2093217	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7140164	0.94[EUR][1000 genomes]
rs7143393	0.99[EUR][1000 genomes]
rs7151608	0.92[ASN][1000 genomes]
rs7151610	0.92[ASN][1000 genomes]
rs7156264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7160180	0.99[EUR][1000 genomes]
rs72673365	0.90[ASN][1000 genomes]
rs74048717	0.94[EUR][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	nsv1246	chr14:39656597-39701520	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv974270	chr14:39664152-39680061	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39672000-39674000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:39672000-39674000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:39672000-39674000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:39672400-39673200	Flanking Active TSS	HepG2	liver
5	chr14:39672400-39673600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:39672400-39674000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:39672400-39674000	Enhancers	Fetal Intestine Large	intestine
8	chr14:39672600-39673200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:39672600-39673200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr14:39672600-39673600	Enhancers	Duodenum Mucosa	Duodenum
11	chr14:39672600-39673600	Enhancers	Stomach Mucosa	stomach
12	chr14:39672600-39673800	Flanking Active TSS	A549	lung
13	chr14:39672600-39673800	Enhancers	K562	blood
14	chr14:39672600-39674000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:39672600-39674000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr14:39672600-39674000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:39672600-39674000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:39672600-39674000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:39672600-39674000	Enhancers	Fetal Intestine Small	intestine
20	chr14:39672600-39674000	Enhancers	NHEK	skin
21	chr14:39672800-39673600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:39672800-39673800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:39672800-39673800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:39672800-39673800	Enhancers	Esophagus	oesophagus
25	chr14:39672800-39673800	Flanking Active TSS	Hela-S3	cervix
26	chr14:39672800-39674000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:39672800-39674000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:39672800-39674000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:39672800-39674000	Enhancers	HMEC	breast
30	chr14:39673000-39673800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr14:39673000-39673800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:39673000-39673800	Enhancers	Colonic Mucosa	Colon

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