Variant report

Variant	rs74056392
Chromosome Location	chr14:65181474-65181475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:65181165-65181475	NB4	blood:	n/a	chr14:65181312-65181322

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10135368	0.85[AFR][1000 genomes]
rs17101973	0.89[AFR][1000 genomes]
rs74056389	1.00[AFR][1000 genomes]
rs74056393	1.00[AFR][1000 genomes]
rs74056398	0.89[AFR][1000 genomes]
rs74056402	0.85[AFR][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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65175200-65181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:65176000-65186400	Weak transcription	Osteobl	bone
3	chr14:65176200-65182000	Weak transcription	Colonic Mucosa	Colon
4	chr14:65176400-65181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:65176400-65182000	Weak transcription	Stomach Mucosa	stomach
6	chr14:65176800-65181600	Weak transcription	Esophagus	oesophagus
7	chr14:65176800-65182000	Weak transcription	Gastric	stomach
8	chr14:65177000-65181800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:65177000-65189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:65177200-65183400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr14:65178000-65181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:65178000-65181800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:65178000-65182000	Weak transcription	Ovary	ovary
14	chr14:65178000-65182000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr14:65178200-65181800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:65178200-65182000	Weak transcription	Fetal Stomach	stomach
17	chr14:65178200-65182000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:65178200-65182000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:65179000-65181600	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:65179000-65181800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:65179800-65181800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:65180200-65181800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr14:65180400-65181600	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr14:65180400-65181800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:65180400-65181800	Weak transcription	Fetal Heart	heart
26	chr14:65180400-65181800	Strong transcription	A549	lung
27	chr14:65180400-65182000	Weak transcription	Fetal Kidney	kidney
28	chr14:65180600-65181600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:65180600-65181800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:65180600-65181800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:65180800-65181600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr14:65180800-65181600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:65180800-65181600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr14:65180800-65181800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:65180800-65182200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:65180800-65182200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:65180800-65182200	Enhancers	Brain Cingulate Gyrus	brain
38	chr14:65180800-65182200	Genic enhancers	HMEC	breast
39	chr14:65180800-65182400	Enhancers	Brain Angular Gyrus	brain
40	chr14:65180800-65185400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr14:65181000-65181600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
42	chr14:65181000-65181600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr14:65181000-65181800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:65181000-65182000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:65181000-65182000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr14:65181000-65182000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:65181000-65182000	Enhancers	Brain Substantia Nigra	brain
48	chr14:65181000-65182200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr14:65181000-65182200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:65181000-65182200	Genic enhancers	NHEK	skin

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