Variant report

Variant	rs60716885
Chromosome Location	chr14:70105970-70105971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70104798..70107619-chr14:70112192..70114043,4	MCF-7	breast:
2	chr14:70086768..70089383-chr14:70104603..70106500,2	MCF-7	breast:
3	chr14:70103180..70106093-chr14:70233573..70235342,2	K562	blood:
4	chr14:70101993..70106597-chr14:70107643..70110243,6	MCF-7	breast:
5	chr14:70101474..70104313-chr14:70104673..70108475,3	K562	blood:
6	chr14:70101474..70104244-chr14:70105126..70107458,2	K562	blood:
7	chr14:70103896..70106224-chr14:70117307..70118955,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10149246	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1275742	0.92[ASN][1000 genomes]
rs1275745	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1275746	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1275817	0.90[AMR][1000 genomes];0.95[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]
rs1295826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295827	0.83[ASN][1000 genomes]
rs17107161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1743379	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1999722	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2210803	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
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];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902745	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]
rs61980729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61980730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573900	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143960	0.90[ASN][1000 genomes]
rs7157093	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs945308	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs945310	1.00[AFR][1000 genomes];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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70093800-70107400	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:70094800-70106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:70095000-70106400	Enhancers	Brain Hippocampus Middle	brain
4	chr14:70095000-70106800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr14:70095400-70106600	Enhancers	Psoas Muscle	Psoas
6	chr14:70095400-70107000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr14:70095600-70106800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:70095800-70106200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70095800-70106400	Enhancers	Adipose Nuclei	Adipose
10	chr14:70097600-70106400	Enhancers	HMEC	breast
11	chr14:70098400-70106600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:70099200-70106800	Enhancers	Stomach Mucosa	stomach
13	chr14:70099400-70106600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr14:70101200-70106600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:70101400-70106400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:70101600-70106400	Enhancers	Primary hematopoietic stem cells	blood
17	chr14:70101600-70106600	Enhancers	Spleen	Spleen
18	chr14:70101800-70106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:70102000-70106600	Enhancers	Gastric	stomach
20	chr14:70102000-70106800	Enhancers	Small Intestine	intestine
21	chr14:70102200-70106400	Enhancers	Thymus	Thymus
22	chr14:70102200-70106600	Enhancers	Lung	lung
23	chr14:70102200-70106600	Enhancers	Pancreas	Pancrea
24	chr14:70102200-70106600	Enhancers	Right Atrium	heart
25	chr14:70102200-70107000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:70102200-70107200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:70102200-70107400	Enhancers	Left Ventricle	heart
28	chr14:70102400-70106400	Enhancers	Liver	Liver
29	chr14:70102400-70107600	Enhancers	Fetal Intestine Large	intestine
30	chr14:70102600-70106600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:70102600-70106600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:70102600-70107000	Enhancers	Fetal Intestine Small	intestine
33	chr14:70102800-70106000	Enhancers	Esophagus	oesophagus
34	chr14:70102800-70106000	Enhancers	Fetal Kidney	kidney
35	chr14:70102800-70106400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr14:70103200-70106600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:70103200-70107000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:70103600-70106000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:70103600-70106400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr14:70103600-70106800	Enhancers	Primary B cells from cord blood	blood
41	chr14:70103600-70106800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr14:70103600-70106800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr14:70103600-70107400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:70103800-70106600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr14:70103800-70107400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:70104200-70106600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:70104600-70107600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:70105000-70106400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr14:70105000-70106600	Enhancers	Monocytes-CD14+_RO01746	blood

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