Variant report

Variant	rs4983416
Chromosome Location	chr14:105937272-105937273
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	POLR2A	chr14:105937160-105937626	GM12878	blood:	n/a	n/a
2	CTCF	chr14:105937140-105937290	BE2_C	brain:	n/a	chr14:105937177-105937186 chr14:105937173-105937186 chr14:105937254-105937263
3	EBF1	chr14:105937162-105937397	GM12878	blood:	n/a	chr14:105937286-105937297
4	MAX	chr14:105937075-105937590	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr14:105937163-105937898	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr14:105937158-105937580	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr14:105936999-105937646	K562	blood:	n/a	n/a
8	TCF12	chr14:105936859-105937691	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr14:105937114-105937513	GM12878	blood:	n/a	n/a
10	NFIC	chr14:105936608-105937718	ECC-1	luminal epithelium:	n/a	n/a
11	NFIC	chr14:105934611-105937722	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr14:105934643-105937725	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr14:105937171-105938016	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr14:105937026-105937981	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:105937180-105939235	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr14:105936942-105937464	ECC-1	luminal epithelium:	n/a	chr14:105937291-105937303 chr14:105937289-105937302 chr14:105937291-105937301 chr14:105937273-105937285 chr14:105937257-105937270 chr14:105937172-105937185
17	CTCF	chr14:105937180-105937330	SK-N-SH_RA	brain:	n/a	chr14:105937254-105937263
18	CTCF	chr14:105937160-105937310	HA-sp	spinal cord:	n/a	chr14:105937177-105937186 chr14:105937173-105937186 chr14:105937254-105937263
19	CTCF	chr14:105937240-105937390	GM12864	blood:	n/a	chr14:105937254-105937263
20	POLR2A	chr14:105937240-105937670	HepG2	liver:	n/a	n/a
21	EP300	chr14:105936909-105937509	ECC-1	luminal epithelium:	n/a	chr14:105937371-105937387
22	POLR2A	chr14:105937224-105937405	Hela-S3	cervix:	n/a	n/a
23	ZBTB7A	chr14:105937000-105938030	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr14:105937140-105937290	WERI-Rb-1	eye:	n/a	chr14:105937177-105937186 chr14:105937173-105937186 chr14:105937254-105937263
25	EP300	chr14:105934658-105937723	ECC-1	luminal epithelium:	n/a	chr14:105934765-105934781 chr14:105937371-105937387
26	CTCF	chr14:105937260-105937410	AG04450	lung:	n/a	n/a
27	ESR1	chr14:105937062-105937373	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr14:105937074-105938580	K562	blood:	n/a	n/a
29	TEAD4	chr14:105935705-105937582	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr14:105937124-105937506	GM12878	blood:	n/a	n/a
31	ZBTB7A	chr14:105936880-105937890	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr14:105937041-105937373	HCT-116	colon:	n/a	n/a
33	POLR2A	chr14:105937052-105937933	HL-60	blood:	n/a	n/a
34	CTCF	chr14:105937160-105937310	AG04449	skin:	n/a	chr14:105937177-105937186 chr14:105937173-105937186 chr14:105937254-105937263
35	POLR2A	chr14:105936896-105937763	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105936571..105939386-chr20:49347941..49350201,2	MCF-7	breast:
2	chr14:105932887..105936381-chr14:105936498..105941811,9	K562	blood:
3	chr14:105863668..105866126-chr14:105933833..105938378,4	MCF-7	breast:
4	chr14:105936218..105937759-chr14:105953901..105956175,2	K562	blood:
5	chr14:105936567..105939705-chr14:105994343..105996511,3	MCF-7	breast:
6	chr14:105936257..105939120-chr14:105942234..105944097,2	K562	blood:
7	chr14:105930163..105933758-chr14:105934789..105938563,5	K562	blood:

Variant related genes	Relation type
ENSG00000257270	TF binding region
CRIP2	TF binding region
ENSG00000213145	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000226174	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10143851	0.81[EUR][1000 genomes]
rs11845995	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58219314	0.86[EUR][1000 genomes]
rs60370249	0.86[EUR][1000 genomes]
rs7145303	1.00[ASN][1000 genomes]
rs74092397	0.86[EUR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:105897800-105940000	Weak transcription	K562	blood
4	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
5	chr14:105902800-105937800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
8	chr14:105926200-105937400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:105926400-105937800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:105926400-105937800	Strong transcription	Fetal Brain Female	brain
11	chr14:105926400-105937800	Strong transcription	Thymus	Thymus
12	chr14:105926600-105937400	Strong transcription	Dnd41	blood
13	chr14:105927200-105939800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:105929000-105938600	Enhancers	Fetal Heart	heart
15	chr14:105929200-105940000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:105930400-105938800	Genic enhancers	Fetal Muscle Leg	muscle
17	chr14:105930800-105937600	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr14:105931000-105938600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:105931000-105939800	Weak transcription	Primary B cells from cord blood	blood
20	chr14:105931200-105939800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:105931600-105939200	Weak transcription	Brain Substantia Nigra	brain
22	chr14:105932000-105938200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:105932000-105938800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:105932000-105939200	Weak transcription	HepG2	liver
25	chr14:105932200-105940000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:105932400-105938000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:105932400-105938600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:105932400-105939400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:105932400-105940200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:105932600-105937400	Strong transcription	NHLF	lung
31	chr14:105932600-105939000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:105932600-105939800	Weak transcription	NH-A	brain
33	chr14:105932800-105938600	Weak transcription	HSMM	muscle
34	chr14:105933000-105937400	Weak transcription	HSMMtube	muscle
35	chr14:105933400-105939800	Enhancers	Left Ventricle	heart
36	chr14:105933800-105938400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:105933800-105939200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:105933800-105940200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:105934000-105937600	Genic enhancers	Placenta	Placenta
40	chr14:105934200-105937800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:105934200-105939800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:105934200-105939800	Weak transcription	GM12878-XiMat	blood
43	chr14:105934400-105937800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:105934600-105937400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:105934600-105938000	Enhancers	Right Atrium	heart
46	chr14:105934800-105937600	Genic enhancers	Lung	lung
47	chr14:105934800-105938600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr14:105934800-105938800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:105934800-105939200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:105935000-105938800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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