Variant report

Variant	rs4902594
Chromosome Location	chr14:68922429-68922430
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68863291..68866067-chr14:68920468..68924017,3	MCF-7	breast:
2	chr14:68917252..68919453-chr14:68919984..68923283,3	MCF-7	breast:
3	chr14:68903088..68905318-chr14:68921062..68923121,2	MCF-7	breast:
4	chr14:68914099..68917436-chr14:68918441..68922631,3	K562	blood:
5	chr14:68771578..68778202-chr14:68921843..68928978,14	MCF-7	breast:
6	chr14:68917247..68930048-chr14:69249444..69264210,56	MCF-7	breast:
7	chr14:68913998..68916839-chr14:68921023..68922631,2	K562	blood:
8	chr14:68918175..68920737-chr14:68921753..68924276,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10130683	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10138140	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10149340	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10149349	0.86[AMR][1000 genomes]
rs10467820	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12435914	0.81[ASN][1000 genomes]
rs12886864	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1468279	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2040783	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2074562	0.83[ASN][1000 genomes]
rs2074563	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2074564	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2074565	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2093202	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2097800	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2107340	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2717217	0.81[ASN][1000 genomes]
rs2842322	0.82[ASN][1000 genomes]
rs3784124	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4411448	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5004090	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6573837	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9323512	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68915400-68924800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68915600-68925400	Weak transcription	Colonic Mucosa	Colon
3	chr14:68916600-68924800	Weak transcription	Fetal Kidney	kidney
4	chr14:68916800-68925600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:68918600-68925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:68918800-68924600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:68918800-68925600	Weak transcription	Left Ventricle	heart
8	chr14:68919000-68924800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:68921400-68924600	Weak transcription	HepG2	liver
10	chr14:68921600-68925400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:68921800-68924800	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:68921800-68925600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:68921800-68925600	Weak transcription	Psoas Muscle	Psoas
14	chr14:68921800-68925800	Weak transcription	Aorta	Aorta
15	chr14:68922000-68925600	Weak transcription	Brain Substantia Nigra	brain
16	chr14:68922000-68925600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:68922000-68925600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:68922000-68925800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:68922200-68937600	Weak transcription	Primary hematopoietic stem cells	blood

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