Variant report

Variant	rs7492796
Chromosome Location	chr14:105888138-105888139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr14:105888058-105888420	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:105888137-105888479	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:105887877-105888604	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:105887949-105888523	A549	lung:	n/a	n/a
5	POLR2A	chr14:105886708-105889552	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr14:105887218-105888806	K562	blood:	n/a	n/a
7	MXI1	chr14:105886614-105890279	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr14:105887658-105889099	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:105887938-105888532	GM12892	blood:	n/a	n/a
10	ELF1	chr14:105888013-105888613	GM12878	blood:	n/a	chr14:105888198-105888210
11	POLR2A	chr14:105887813-105888442	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105835990..105838531-chr14:105887072..105888868,2	K562	blood:
2	chr14:105863063..105865456-chr14:105887763..105889442,3	K562	blood:
3	chr14:105885358..105889451-chr14:105901895..105905959,5	MCF-7	breast:
4	chr14:105863063..105864847-chr14:105886913..105889442,2	K562	blood:
5	chr14:105886107..105887818-chr14:105887974..105889607,2	MCF-7	breast:
6	chr14:105887212..105890190-chr14:105946793..105948688,2	K562	blood:
7	chr14:105884288..105888783-chr14:105938542..105943341,7	MCF-7	breast:
8	chr14:105887282..105889637-chr14:105895992..105898524,2	MCF-7	breast:
9	chr14:105886174..105888891-chr14:105953847..105956104,2	MCF-7	breast:
10	chr14:105887779..105891496-chr14:105947005..105949975,3	MCF-7	breast:
11	chr14:105887761..105889537-chr14:105933302..105935322,2	MCF-7	breast:
12	chr14:105887107..105890164-chr14:105897774..105900596,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251602	TF binding region
ENSG00000182979	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000213145	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000257341	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10151352	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs28730331	0.85[AMR][1000 genomes]
rs7144639	0.88[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105885200-105888200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:105885600-105888200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr14:105886600-105889400	Enhancers	Fetal Brain Male	brain
4	chr14:105886800-105888200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
5	chr14:105886800-105888200	Flanking Active TSS	Thymus	Thymus
6	chr14:105886800-105888200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr14:105886800-105888400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:105886800-105888400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr14:105886800-105888400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:105886800-105888400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr14:105886800-105888600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr14:105886800-105888600	Flanking Active TSS	Colonic Mucosa	Colon
13	chr14:105886800-105888600	Flanking Active TSS	Fetal Brain Female	brain
14	chr14:105886800-105888600	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr14:105886800-105888600	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr14:105886800-105888800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:105886800-105889000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr14:105886800-105889400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:105887000-105888200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr14:105887000-105888200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:105887000-105888200	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr14:105887000-105888200	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr14:105887000-105888200	Flanking Active TSS	Osteobl	bone
24	chr14:105887000-105888400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:105887000-105888400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr14:105887000-105888600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:105887000-105888800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr14:105887000-105888800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:105887000-105888800	Flanking Active TSS	HMEC	breast
30	chr14:105887000-105889400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:105887200-105888200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:105887200-105888200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:105887200-105888200	Flanking Active TSS	HepG2	liver
34	chr14:105887200-105888200	Flanking Active TSS	K562	blood
35	chr14:105887200-105888400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:105887200-105888800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr14:105887200-105888800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr14:105887200-105897800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr14:105887400-105888200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr14:105887400-105888200	Flanking Active TSS	NHLF	lung
41	chr14:105887400-105888400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:105887400-105888400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:105887400-105888400	Enhancers	Psoas Muscle	Psoas
44	chr14:105887400-105888400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr14:105887400-105888600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:105887400-105888800	Enhancers	Primary B cells from cord blood	blood
47	chr14:105887400-105889200	Enhancers	Primary B cells from peripheral blood	blood
48	chr14:105887400-105889200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:105887400-105889200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr14:105887400-105889200	Enhancers	Liver	Liver

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