Variant report

Variant	rs4983628
Chromosome Location	chr14:105913520-105913521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105913336-105913674	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:105913455-105913759	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:105912265-105913545	K562	blood:	n/a	n/a
4	POLR2A	chr14:105910586-105915541	SK-N-MC	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:105907254..105908857-chr14:105912324..105914707,2	K562	blood:
2	chr14:105891196..105893763-chr14:105912058..105914159,2	K562	blood:
3	chr14:105853819..105855842-chr14:105912644..105914508,2	K562	blood:
4	chr14:105907005..105908754-chr14:105912161..105914707,2	K562	blood:
5	chr14:105909845..105911425-chr14:105913229..105915118,2	MCF-7	breast:
6	chr14:105913441..105915504-chr14:105931555..105934334,2	K562	blood:
7	chr14:105832284..105834885-chr14:105913113..105915280,2	MCF-7	breast:
8	chr14:105912486..105914477-chr14:105934417..105935963,2	K562	blood:

No data

Variant related genes	Relation type
MTA1	TF binding region
ENSG00000182979	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10136173	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4983407	1.00[ASN][1000 genomes]
rs4983620	1.00[ASN][1000 genomes]
rs4983623	0.84[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4983625	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6420943	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6576102	1.00[AMR][1000 genomes]
rs7143586	1.00[ASN][1000 genomes]
rs7144639	1.00[ASN][1000 genomes]
rs7153174	1.00[ASN][1000 genomes]
rs7161158	0.82[YRI][hapmap]
rs8009236	1.00[AMR][1000 genomes]
rs8018272	1.00[ASN][1000 genomes]
rs9743822	1.00[ASN][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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105887600-105919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:105888600-105914800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:105888600-105918400	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:105889400-105914400	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:105889400-105914800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:105889400-105916400	Weak transcription	Brain Anterior Caudate	brain
9	chr14:105890400-105916200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:105897400-105914800	Weak transcription	Right Atrium	heart
11	chr14:105897400-105917000	Weak transcription	Primary B cells from cord blood	blood
12	chr14:105897600-105914600	Weak transcription	Fetal Lung	lung
13	chr14:105897600-105927200	Weak transcription	NH-A	brain
14	chr14:105897800-105940000	Weak transcription	K562	blood
15	chr14:105898400-105931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
17	chr14:105900000-105915800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:105900800-105916400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:105902800-105914600	Strong transcription	Fetal Stomach	stomach
20	chr14:105902800-105925200	Strong transcription	Dnd41	blood
21	chr14:105902800-105937800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:105903000-105914400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:105903200-105935400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:105904000-105913600	Strong transcription	Fetal Thymus	thymus
25	chr14:105904000-105919000	Weak transcription	Hela-S3	cervix
26	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:105906800-105931000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:105907000-105914000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:105907000-105921800	Weak transcription	HMEC	breast
30	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
31	chr14:105907400-105914800	Weak transcription	Osteobl	bone
32	chr14:105907600-105914400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr14:105907600-105915400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:105907600-105916800	Weak transcription	Brain Angular Gyrus	brain
35	chr14:105909200-105914800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:105909200-105916200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:105909200-105916600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:105909200-105916600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:105909400-105913600	Weak transcription	HSMM	muscle
40	chr14:105909400-105914800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:105909400-105916000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:105909400-105917000	Weak transcription	GM12878-XiMat	blood
43	chr14:105909600-105914200	Weak transcription	A549	lung
44	chr14:105909600-105914600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:105909600-105914600	Weak transcription	Left Ventricle	heart
46	chr14:105909600-105915000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:105909600-105915600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:105909600-105915600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:105909600-105916000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:105909600-105916000	Weak transcription	Ovary	ovary

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