Variant report

Variant	rs4983414
Chromosome Location	chr14:105935041-105935042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:105934519-105936718	ECC-1	luminal epithelium:	n/a	n/a
2	MYC	chr14:105935014-105935116	MCF-7	breast:	n/a	n/a
3	POLR2A	chr14:105934425-105935357	K562	blood:	n/a	n/a
4	ZBTB7A	chr14:105934582-105936644	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr14:105933160-105936483	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:105935034-105935208	A549	lung:	n/a	n/a
7	NR3C1	chr14:105934867-105935179	ECC-1	luminal epithelium:	n/a	chr14:105935044-105935053 chr14:105935040-105935053 chr14:105935036-105935050
8	POLR2A	chr14:105934918-105935187	MCF-7	breast:	n/a	n/a
9	NFIC	chr14:105934611-105937722	ECC-1	luminal epithelium:	n/a	n/a
10	NR3C1	chr14:105934874-105935237	A549	lung:	n/a	chr14:105935044-105935053 chr14:105935040-105935053 chr14:105935036-105935050
11	TCF12	chr14:105934643-105937725	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr14:105935027-105935086	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr14:105934929-105936452	K562	blood:	n/a	n/a
14	MYC	chr14:105934950-105935148	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr14:105934763-105935675	ECC-1	luminal epithelium:	n/a	n/a
16	YY1	chr14:105934894-105936567	ECC-1	luminal epithelium:	n/a	n/a
17	EP300	chr14:105934777-105936536	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr14:105934463-105936615	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr14:105934796-105935170	ProgFib	skin:	n/a	n/a
20	POLR2A	chr14:105934892-105935218	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr14:105935006-105935182	GM12878	blood:	n/a	n/a
22	EGR1	chr14:105934858-105935521	ECC-1	luminal epithelium:	n/a	n/a
23	ZBTB7A	chr14:105934403-105936886	ECC-1	luminal epithelium:	n/a	n/a
24	TCF12	chr14:105934559-105936808	ECC-1	luminal epithelium:	n/a	n/a
25	ESR1	chr14:105934873-105935492	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr14:105934870-105936385	Hela-S3	cervix:	n/a	n/a
27	EP300	chr14:105934658-105937723	ECC-1	luminal epithelium:	n/a	chr14:105934765-105934781 chr14:105937371-105937387
28	POLR2A	chr14:105934902-105935096	H1-hESC	embryonic stem cell:	n/a	n/a
29	NR2F2	chr14:105933316-105936483	MCF-7	breast:	n/a	n/a
30	TEAD4	chr14:105934791-105935608	ECC-1	luminal epithelium:	n/a	n/a
31	ESR1	chr14:105934846-105935450	ECC-1	luminal epithelium:	n/a	n/a
32	NFIC	chr14:105934625-105936594	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr14:105934984-105935366	Hela-S3	cervix:	n/a	n/a
34	EP300	chr14:105934695-105935274	T-47D	breast:	n/a	chr14:105934765-105934781
35	POLR2A	chr14:105934871-105935620	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr14:105934946-105935339	HL-60	blood:	n/a	n/a
37	MYC	chr14:105935017-105935224	MCF-7	breast:	n/a	n/a
38	TEAD4	chr14:105934781-105935611	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105932887..105936381-chr14:105936498..105941811,9	K562	blood:
2	chr14:105863668..105866126-chr14:105933833..105938378,4	MCF-7	breast:
3	chr14:105932887..105936301-chr14:105938712..105941811,4	K562	blood:
4	chr14:105932848..105935493-chr14:105944739..105946369,2	K562	blood:
5	chr14:105902565..105906697-chr14:105932169..105936497,4	MCF-7	breast:
6	chr14:105930163..105933758-chr14:105934789..105938563,5	K562	blood:

No data

Variant related genes	Relation type
CRIP2	TF binding region
MTA1	TF binding region
ENSG00000226174	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000257270	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10138891	0.82[YRI][hapmap];0.93[AMR][1000 genomes]
rs10147154	1.00[CHD][hapmap]
rs11160845	0.82[YRI][hapmap];0.93[AMR][1000 genomes]
rs11621365	1.00[CHD][hapmap]
rs11845995	1.00[CHD][hapmap]
rs12323571	0.82[YRI][hapmap];0.93[AMR][1000 genomes]
rs12891645	0.81[AMR][1000 genomes]
rs13707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3936032	0.83[YRI][hapmap];0.87[AMR][1000 genomes]
rs4074000	0.88[ASW][hapmap];0.81[AMR][1000 genomes]
rs4074001	0.94[ASW][hapmap];1.00[CHD][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes]
rs4983407	1.00[CHD][hapmap]
rs4983412	0.86[AMR][1000 genomes]
rs4983417	1.00[ASN][1000 genomes]
rs4983418	0.82[ASW][hapmap];1.00[CHD][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4983419	0.86[AMR][1000 genomes]
rs4983422	0.93[AMR][1000 genomes]
rs4983423	0.82[YRI][hapmap];0.93[AMR][1000 genomes]
rs4983614	1.00[CHD][hapmap]
rs6576099	1.00[CHD][hapmap]
rs6576105	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6576106	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7140395	0.93[AMR][1000 genomes]
rs7153174	1.00[CHD][hapmap]
rs7158977	0.93[AMR][1000 genomes]
rs7161158	1.00[CHD][hapmap]
rs73362069	0.93[AMR][1000 genomes]
rs73362079	1.00[ASN][1000 genomes]
rs7492842	0.80[YRI][hapmap]
rs7492892	0.86[AMR][1000 genomes]
rs7492915	0.87[AMR][1000 genomes]
rs7493450	0.89[YRI][hapmap];0.86[AMR][1000 genomes]
rs7493964	0.88[ASW][hapmap];0.94[LWK][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap]
rs8005552	1.00[CHD][hapmap];0.86[YRI][hapmap]
rs8012089	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9743822	0.82[ASW][hapmap];1.00[CHD][hapmap];0.86[YRI][hapmap]

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	chr14:105903200-105935400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
9	chr14:105912000-105937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:105915400-105936800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr14:105915600-105937000	Strong transcription	Fetal Stomach	stomach
12	chr14:105919000-105935200	Weak transcription	Stomach Mucosa	stomach
13	chr14:105926200-105935800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:105926200-105937000	Strong transcription	Brain Germinal Matrix	brain
15	chr14:105926200-105937400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:105926400-105936600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr14:105926400-105936600	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:105926400-105937000	Strong transcription	Fetal Intestine Small	intestine
19	chr14:105926400-105937800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:105926400-105937800	Strong transcription	Fetal Brain Female	brain
21	chr14:105926400-105937800	Strong transcription	Thymus	Thymus
22	chr14:105926600-105935200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:105926600-105935400	Strong transcription	Fetal Thymus	thymus
24	chr14:105926600-105936000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:105926600-105936400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:105926600-105936400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:105926600-105936400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr14:105926600-105936600	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr14:105926600-105936600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:105926600-105937200	Strong transcription	Fetal Intestine Large	intestine
31	chr14:105926600-105937200	Strong transcription	Ovary	ovary
32	chr14:105926600-105937400	Strong transcription	Dnd41	blood
33	chr14:105926800-105935400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:105926800-105936400	Strong transcription	Primary T cells from cord blood	blood
35	chr14:105927200-105939800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr14:105929000-105938600	Enhancers	Fetal Heart	heart
37	chr14:105929200-105935600	Strong transcription	Colonic Mucosa	Colon
38	chr14:105929200-105940000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:105929400-105935400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr14:105929400-105936800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:105929600-105936400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:105930400-105938800	Genic enhancers	Fetal Muscle Leg	muscle
43	chr14:105930800-105937600	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr14:105931000-105938600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:105931000-105939800	Weak transcription	Primary B cells from cord blood	blood
46	chr14:105931200-105935200	Enhancers	HMEC	breast
47	chr14:105931200-105936400	Strong transcription	HUVEC	blood vessel
48	chr14:105931200-105939800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:105931400-105935800	Genic enhancers	Placenta Amnion	Placenta Amnion
50	chr14:105931400-105937200	Weak transcription	Brain Angular Gyrus	brain

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