Variant report

Variant	rs1295826
Chromosome Location	chr14:70116909-70116910
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:70113887..70117052-chr14:70117331..70121263,5	K562	blood:
2	chr14:70108653..70111894-chr14:70113537..70117255,5	K562	blood:
3	chr14:70082796..70084596-chr14:70115953..70118660,2	MCF-7	breast:
4	chr14:70107632..70111411-chr14:70113640..70118051,5	MCF-7	breast:
5	chr14:70110167..70112208-chr14:70116437..70117943,2	MCF-7	breast:
6	chr14:70114857..70122560-chr14:70122603..70126754,12	MCF-7	breast:
7	chr14:70078253..70081194-chr14:70115455..70117698,3	MCF-7	breast:
8	chr14:70103316..70105220-chr14:70115351..70116992,2	MCF-7	breast:
9	chr14:70102489..70105058-chr14:70116794..70119133,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10149246	0.85[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1275742	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.92[ASN][1000 genomes]
rs1275745	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1275746	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1275817	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1275823	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1290041	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1295827	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs17107161	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1743379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1999722	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2210803	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2332094	0.83[CHB][hapmap]
rs2766462	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2766466	0.83[ASN][1000 genomes]
rs34686932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55780993	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60716885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61980730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573900	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143960	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs7157093	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8006991	0.83[CHB][hapmap]
rs945308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945309	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs945310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs945312	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1295826	SLC8A3	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70108400-70121200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:70109000-70121400	Enhancers	Stomach Mucosa	stomach
4	chr14:70109400-70121200	Enhancers	Small Intestine	intestine
5	chr14:70109600-70121200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr14:70109800-70125400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:70110000-70122800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:70110200-70121400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr14:70110400-70121400	Enhancers	Primary B cells from peripheral blood	blood
10	chr14:70110400-70124600	Weak transcription	Fetal Brain Female	brain
11	chr14:70112400-70117000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:70112600-70123600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr14:70113600-70120600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr14:70113600-70121200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:70113800-70118000	Enhancers	Brain Angular Gyrus	brain
16	chr14:70113800-70118800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr14:70113800-70119400	Enhancers	Fetal Intestine Small	intestine
18	chr14:70113800-70119800	Enhancers	K562	blood
19	chr14:70113800-70121200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:70113800-70121200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:70114000-70118400	Enhancers	Brain Substantia Nigra	brain
22	chr14:70114000-70118400	Enhancers	Fetal Muscle Leg	muscle
23	chr14:70114000-70118400	Enhancers	Fetal Stomach	stomach
24	chr14:70114000-70118800	Enhancers	Fetal Lung	lung
25	chr14:70114000-70119000	Enhancers	Primary T cells from cord blood	blood
26	chr14:70114000-70119200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:70114000-70120000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:70114000-70120200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:70114000-70120200	Enhancers	HUVEC	blood vessel
30	chr14:70114000-70121000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:70114000-70121000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr14:70114000-70121000	Enhancers	Adipose Nuclei	Adipose
33	chr14:70114000-70121200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:70114000-70121200	Enhancers	Right Ventricle	heart
35	chr14:70114000-70121200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr14:70114000-70121200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:70114000-70121400	Enhancers	Colonic Mucosa	Colon
38	chr14:70114000-70121800	Enhancers	Psoas Muscle	Psoas
39	chr14:70114000-70125000	Enhancers	Fetal Intestine Large	intestine
40	chr14:70114000-70126400	Enhancers	Left Ventricle	heart
41	chr14:70114200-70117000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:70114200-70118400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:70114200-70120400	Enhancers	Fetal Heart	heart
44	chr14:70114200-70121000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr14:70114400-70117000	Flanking Active TSS	GM12878-XiMat	blood
46	chr14:70114400-70121200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:70114400-70121200	Enhancers	Spleen	Spleen
48	chr14:70114800-70118000	Enhancers	Brain Cingulate Gyrus	brain
49	chr14:70114800-70119200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:70114800-70119200	Weak transcription	Fetal Muscle Trunk	muscle

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