Variant report

Variant	rs28529463
Chromosome Location	chr14:105882011-105882012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr14:105881296-105882049	A549	lung:	n/a	chr14:105881615-105881624 chr14:105881613-105881622 chr14:105881612-105881626
2	POLR2A	chr14:105881986-105882047	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:105880579-105882910	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:105879052-105882017	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr14:105881984-105882186	K562	blood:	n/a	n/a
6	CTCF	chr14:105881176-105882122	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr14:105881718-105882104	MCF10A-Er-Src	breast:	n/a	n/a
8	HCFC1	chr14:105881038-105882083	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105881968-105882018	SK-N-SH	brain:	n/a
2	chr14:105881968-105882018	PANC-1	pancreas:	n/a
3	chr14:105881968-105882018	Jurkat	blood:	n/a
4	chr14:105881968-105882018	HCM	heart:	n/a
5	chr14:105881968-105882018	GM12892	blood:	n/a
6	chr14:105881968-105882018	BJ	skin:	n/a
7	chr14:105881968-105882018	T-47D	breast:	n/a
8	chr14:105881968-105882018	HRE	kidney:	n/a
9	chr14:105881968-105882018	IMR90	lung:	fetal
10	chr14:105881968-105882018	HMEC	breast:	n/a
11	chr14:105881968-105882018	SK-N-SH_RA	brain:	n/a
12	chr14:105881968-105882018	AG09319	gingival:	n/a
13	chr14:105881968-105882018	ProgFib	skin:	n/a
14	chr14:105881968-105882018	SKMC	muscle:	n/a
15	chr14:105881968-105882018	HRPEpiC	eye:	n/a
16	chr14:105881968-105882018	NT2-D1	testis:	n/a
17	chr14:105881968-105882018	PFSK-1	brain:	n/a
18	chr14:105881968-105882018	GM12891	blood:	n/a
19	chr14:105881968-105882018	HIPEpiC	eye:	n/a
20	chr14:105881968-105882018	SK-N-MC	brain:	n/a
21	chr14:105881968-105882018	H1-hESC	embryonic stem cell:	embryo
22	chr14:105881968-105882018	ECC-1	luminal epithelium:	n/a
23	chr14:105881968-105882018	Hela-S3	cervix:	n/a
24	chr14:105881968-105882018	NHBE	bronchial:	n/a
25	chr14:105881968-105882018	MCF-7	breast:	n/a
26	chr14:105881968-105882018	HCT-116	colon:	n/a
27	chr14:105881968-105882018	GM19239	blood:	n/a
28	chr14:105881968-105882018	NH-A	brain:	n/a
29	chr14:105881968-105882018	AG10803	skin:	n/a
30	chr14:105881968-105882018	MCF10A-Er-Src	breast:	n/a
31	chr14:105881968-105882018	HCF	heart:	n/a
32	chr14:105881968-105882018	HEK293	kidney:	embryo
33	chr14:105881968-105882018	AoSMC	blood vessel:	n/a
34	chr14:105881968-105882018	HepG2	liver:	n/a
35	chr14:105881968-105882018	HRCEpiC	kidney:	n/a
36	chr14:105881968-105882018	HNPCEpiC	eye:	n/a
37	chr14:105881968-105882018	HPAEpiC	pulmonary alveolar:	n/a
38	chr14:105881968-105882018	K562	blood:	n/a
39	chr14:105881968-105882018	HEEpiC	esophagus:	n/a
40	chr14:105881968-105882018	HAEpiC	amniotic membrane:	n/a
41	chr14:105881968-105882018	CMK	blood:	n/a
42	chr14:105881968-105882018	HL-60	blood:	n/a
43	chr14:105881968-105882018	AG04450	lung:	fetal
44	chr14:105881968-105882018	NB4	blood:	n/a
45	chr14:105881968-105882018	LNCaP	prostate:	n/a
46	chr14:105881968-105882018	GM12878	blood:	n/a
47	chr14:105881968-105882018	AG09309	skin:	n/a
48	chr14:105881968-105882018	AG04449	skin:	fetal
49	chr14:105881968-105882018	HCPEpiC	choroid plexus:	n/a
50	chr14:105881968-105882018	U87	brain:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105880098..105883003-chr14:105910883..105913200,2	K562	blood:
2	chr14:105876338..105883262-chr14:105952928..105958741,9	MCF-7	breast:
3	chr14:105865246..105867543-chr14:105880799..105882893,2	K562	blood:
4	chr14:105859207..105862401-chr14:105879269..105882995,3	K562	blood:
5	chr14:105833305..105836227-chr14:105880754..105883670,2	K562	blood:
6	chr14:105881282..105882070-chr6:27804848..27805770,2	NB4	blood:
7	chr14:105878253..105887592-chr14:105952988..105961277,12	MCF-7	breast:
8	chr14:105859207..105861741-chr14:105880044..105882995,2	K562	blood:
9	chr14:105878872..105884276-chr14:105939558..105943133,6	MCF-7	breast:

No data

Variant related genes	Relation type
MTA1	TF binding region
MTA1	CpG island
ENSG00000185347	Chromatin interaction
ENSG00000256498	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000213145	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10147154	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11621365	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12435295	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28541433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4983613	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4983614	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4983615	0.84[AMR][1000 genomes]
rs6576085	1.00[ASN][1000 genomes]
rs6576086	1.00[ASN][1000 genomes]
rs6576087	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576088	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7149988	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73361071	0.81[AMR][1000 genomes]
rs73361094	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7492842	0.91[AMR][1000 genomes]
rs8014777	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105878200-105885200	Weak transcription	NHDF-Ad	bronchial
2	chr14:105880800-105882200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:105880800-105882200	Active TSS	Fetal Brain Female	brain
4	chr14:105880800-105882600	Enhancers	Fetal Heart	heart
5	chr14:105880800-105882600	Flanking Active TSS	Dnd41	blood
6	chr14:105881600-105882200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr14:105881600-105882200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr14:105881600-105884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:105881600-105884600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:105881600-105885000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:105881600-105885200	Weak transcription	Right Atrium	heart
12	chr14:105881600-105885400	Weak transcription	Left Ventricle	heart
13	chr14:105881600-105885400	Weak transcription	HMEC	breast
14	chr14:105881800-105882200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr14:105881800-105882200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:105881800-105882200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:105881800-105882200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:105881800-105882200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:105881800-105882200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr14:105881800-105882200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:105881800-105882200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr14:105881800-105882200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr14:105881800-105882200	Enhancers	Fetal Intestine Small	intestine
24	chr14:105881800-105882200	Enhancers	Ovary	ovary
25	chr14:105881800-105882200	Enhancers	Rectal Smooth Muscle	rectum
26	chr14:105881800-105882200	Enhancers	GM12878-XiMat	blood
27	chr14:105881800-105882600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr14:105881800-105882600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:105881800-105882600	Enhancers	Psoas Muscle	Psoas
30	chr14:105881800-105884000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:105881800-105884000	Weak transcription	Colonic Mucosa	Colon
32	chr14:105881800-105884200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:105881800-105884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:105881800-105884600	Weak transcription	Pancreas	Pancrea
35	chr14:105881800-105884800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:105881800-105884800	Weak transcription	Lung	lung
37	chr14:105881800-105884800	Weak transcription	NHLF	lung
38	chr14:105881800-105885000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:105881800-105885000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:105881800-105885000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:105881800-105885000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:105881800-105885000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:105881800-105885000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:105881800-105885000	Weak transcription	Brain Substantia Nigra	brain
45	chr14:105881800-105885000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:105881800-105885000	Weak transcription	Fetal Lung	lung
47	chr14:105881800-105885000	Weak transcription	Gastric	stomach
48	chr14:105881800-105885000	Weak transcription	Right Ventricle	heart
49	chr14:105881800-105885200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:105881800-105885200	Weak transcription	HSMM	muscle

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