Variant report

Variant	rs2210803
Chromosome Location	chr14:70142781-70142782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70141485..70143505-chr14:70148882..70151101,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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[ASN][1000 genomes]
rs1275742	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1275745	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];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275746	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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275817	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275823	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1290041	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1295826	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]
rs1295827	0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17107161	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]
rs1743379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999722	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2332094	0.83[CHB][hapmap]
rs2766462	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2766466	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34686932	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780993	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60716885	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61980729	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980730	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573900	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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143960	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs7157093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs945309	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs945310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs945312	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70130000-70148800	Weak transcription	NHEK	skin
3	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:70133600-70143400	Enhancers	Fetal Thymus	thymus
5	chr14:70133800-70144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:70133800-70148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:70134800-70143600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr14:70134800-70143600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:70135000-70143800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:70135800-70142800	Enhancers	Right Ventricle	heart
12	chr14:70136000-70143000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr14:70136000-70143800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr14:70136000-70144000	Enhancers	Psoas Muscle	Psoas
15	chr14:70136200-70143000	Enhancers	Brain Hippocampus Middle	brain
16	chr14:70136200-70143800	Enhancers	Left Ventricle	heart
17	chr14:70136600-70143000	Enhancers	Pancreas	Pancrea
18	chr14:70136600-70143000	Enhancers	Right Atrium	heart
19	chr14:70137200-70148800	Weak transcription	K562	blood
20	chr14:70137600-70143000	Enhancers	Primary B cells from peripheral blood	blood
21	chr14:70137600-70143400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:70138000-70143800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr14:70138200-70143000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:70138200-70149000	Weak transcription	HMEC	breast
25	chr14:70138600-70143000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:70138600-70143400	Enhancers	Primary T cells from cord blood	blood
27	chr14:70138600-70147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:70138800-70143000	Enhancers	Small Intestine	intestine
29	chr14:70139000-70142800	Enhancers	Brain Angular Gyrus	brain
30	chr14:70139000-70143000	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:70139200-70142800	Enhancers	Lung	lung
32	chr14:70139400-70142800	Enhancers	Thymus	Thymus
33	chr14:70139400-70143000	Enhancers	Colon Smooth Muscle	Colon
34	chr14:70139800-70152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:70140000-70149800	Weak transcription	Placenta	Placenta
36	chr14:70140600-70152200	Weak transcription	NHLF	lung
37	chr14:70140800-70144000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr14:70141000-70144000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:70141000-70149800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr14:70141000-70150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:70141200-70142800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr14:70141200-70143400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:70141200-70146800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:70141200-70146800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:70141200-70146800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr14:70141200-70148800	Weak transcription	Esophagus	oesophagus
47	chr14:70141400-70142800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:70141400-70143000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:70141400-70149800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:70141600-70148200	Weak transcription	Spleen	Spleen

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