Variant report

Variant	rs17107161
Chromosome Location	chr14:70110171-70110172
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:70109436..70111234-chr14:70149871..70151669,2	MCF-7	breast:
2	chr14:70110167..70112208-chr14:70116437..70117943,2	MCF-7	breast:
3	chr14:70095513..70097644-chr14:70108605..70110180,2	K562	blood:
4	chr14:70108653..70111894-chr14:70113537..70117255,5	K562	blood:
5	chr14:70093575..70095940-chr14:70109923..70112166,2	K562	blood:
6	chr14:70107632..70111411-chr14:70113640..70118051,5	MCF-7	breast:
7	chr14:70101993..70106597-chr14:70107643..70110243,6	MCF-7	breast:
8	chr14:70106221..70108070-chr14:70109431..70111866,2	K562	blood:

No data

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];0.82[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];0.92[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];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[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];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[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];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1275823	0.83[ASN][1000 genomes]
rs1290041	0.83[ASN][1000 genomes]
rs1295826	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]
rs1295827	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs1743379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[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];0.87[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[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];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2332094	0.83[CHB][hapmap]
rs2766462	0.83[ASN][1000 genomes]
rs2766466	0.83[ASN][1000 genomes]
rs34686932	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55780993	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60716885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980729	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61980730	1.00[AMR][1000 genomes];0.99[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];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[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];0.95[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[AMR][1000 genomes];0.97[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];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[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];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs945312	0.93[AMR][1000 genomes];0.92[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
rs17107161	SLC8A3	cis	parietal	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70105000-70113800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:70105200-70115400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:70105400-70114000	Weak transcription	Fetal Stomach	stomach
5	chr14:70105600-70111400	Weak transcription	Fetal Lung	lung
6	chr14:70105600-70115600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:70105800-70110200	Weak transcription	Aorta	Aorta
8	chr14:70105800-70113800	Weak transcription	Osteobl	bone
9	chr14:70105800-70114600	Weak transcription	Placenta	Placenta
10	chr14:70105800-70115600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:70106200-70113200	ZNF genes & repeats	GM12878-XiMat	blood
12	chr14:70106600-70110200	Weak transcription	Brain Substantia Nigra	brain
13	chr14:70106600-70110200	Weak transcription	Spleen	Spleen
14	chr14:70106600-70115000	Weak transcription	Fetal Kidney	kidney
15	chr14:70107200-70110200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr14:70107600-70110200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:70107600-70110400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr14:70108000-70113800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:70108200-70114000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:70108400-70121200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:70109000-70110200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr14:70109000-70110600	Enhancers	Right Atrium	heart
23	chr14:70109000-70114600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr14:70109000-70121400	Enhancers	Stomach Mucosa	stomach
25	chr14:70109200-70110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:70109200-70112200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:70109400-70110200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:70109400-70110400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr14:70109400-70110400	Enhancers	Gastric	stomach
30	chr14:70109400-70110400	Enhancers	Lung	lung
31	chr14:70109400-70110400	Enhancers	Pancreas	Pancrea
32	chr14:70109400-70110400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr14:70109400-70110400	Enhancers	Right Ventricle	heart
34	chr14:70109400-70110800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr14:70109400-70112000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr14:70109400-70112000	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:70109400-70112000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr14:70109400-70112200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:70109400-70112400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:70109400-70115400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:70109400-70121200	Enhancers	Small Intestine	intestine
42	chr14:70109600-70110200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:70109600-70110400	Enhancers	Thymus	Thymus
44	chr14:70109600-70110600	Enhancers	Fetal Muscle Leg	muscle
45	chr14:70109600-70110600	Enhancers	Left Ventricle	heart
46	chr14:70109600-70110800	Enhancers	Adipose Nuclei	Adipose
47	chr14:70109600-70110800	Enhancers	Colon Smooth Muscle	Colon
48	chr14:70109600-70111000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr14:70109600-70111000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr14:70109600-70111000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links