Variant report

Variant	rs945027
Chromosome Location	chr14:64417672-64417673
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10149728	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[EUR][1000 genomes]
rs10498512	0.95[EUR][1000 genomes]
rs10873172	0.95[CEU][hapmap];0.85[CHB][hapmap];0.82[YRI][hapmap]
rs11623650	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1255856	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1255857	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1255867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1255872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255873	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1255874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255875	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255876	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1255877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1255878	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1255879	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1255880	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1255881	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255882	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1255883	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255885	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255887	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255890	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255891	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255892	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1255896	0.97[EUR][1000 genomes]
rs1255900	0.96[EUR][1000 genomes]
rs1255901	0.96[EUR][1000 genomes]
rs1255902	0.96[EUR][1000 genomes]
rs1255903	0.94[EUR][1000 genomes]
rs1255905	0.96[EUR][1000 genomes]
rs1255908	0.96[EUR][1000 genomes]
rs1262235	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1262237	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1266870	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1270526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1271567	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1272156	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1272714	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1273192	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12878653	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12881652	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2184292	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2357175	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2357176	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2792201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28483877	0.96[EUR][1000 genomes]
rs2884111	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2994421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2994422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35224808	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61984073	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7156570	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8009321	0.96[EUR][1000 genomes]
rs9323442	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9323443	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs945028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
2	chr14:64390600-64418800	Weak transcription	HepG2	liver
3	chr14:64393200-64419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
5	chr14:64396000-64418600	Weak transcription	Fetal Heart	heart
6	chr14:64400000-64419800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:64400800-64417800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:64401400-64430200	Weak transcription	Stomach Mucosa	stomach
9	chr14:64401600-64427800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:64403600-64432800	Weak transcription	Lung	lung
11	chr14:64405000-64423400	Weak transcription	HSMM	muscle
12	chr14:64405600-64418800	Weak transcription	HMEC	breast
13	chr14:64405800-64418800	Weak transcription	Small Intestine	intestine
14	chr14:64406200-64434400	Weak transcription	Hela-S3	cervix
15	chr14:64407200-64418800	Weak transcription	HUVEC	blood vessel
16	chr14:64408200-64432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:64408400-64430200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:64409000-64417800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:64410000-64418400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:64410000-64422800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:64410000-64429600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:64411200-64424600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr14:64411800-64425200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:64412200-64419000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:64414400-64439600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:64414800-64418000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:64415400-64418600	Weak transcription	NHLF	lung
28	chr14:64415400-64435800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:64415600-64418800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:64415600-64419200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:64415600-64419400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr14:64415600-64425400	Strong transcription	Dnd41	blood
33	chr14:64415600-64439000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:64416000-64418800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:64416000-64419000	Strong transcription	Primary B cells from cord blood	blood
36	chr14:64416000-64419200	Strong transcription	Fetal Stomach	stomach
37	chr14:64416000-64421600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:64416200-64417800	Strong transcription	Liver	Liver
39	chr14:64416200-64418000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:64416200-64418200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:64416200-64418200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:64416200-64418200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:64416200-64418200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:64416200-64418400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:64416200-64418800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:64416200-64418800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr14:64416200-64418800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:64416200-64418800	Strong transcription	Left Ventricle	heart
49	chr14:64416200-64419000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:64416200-64419000	Strong transcription	Fetal Intestine Small	intestine

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