Variant report

Variant	rs45540035
Chromosome Location	chr14:39524135-39524136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10483540	0.80[EUR][1000 genomes]
rs17108815	0.90[EUR][1000 genomes]
rs45469295	0.89[EUR][1000 genomes]
rs45469795	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55790340	0.98[EUR][1000 genomes]
rs55880223	0.89[EUR][1000 genomes]
rs55918207	0.87[EUR][1000 genomes]
rs55981737	0.89[EUR][1000 genomes]
rs55987939	0.89[EUR][1000 genomes]
rs55997577	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56032918	0.89[EUR][1000 genomes]
rs56063785	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074634	0.98[EUR][1000 genomes]
rs56087094	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103446	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125789	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136756	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225465	0.91[EUR][1000 genomes]
rs56225696	0.85[EUR][1000 genomes]
rs56237815	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276842	0.89[EUR][1000 genomes]
rs56282196	0.89[EUR][1000 genomes]
rs56328886	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333870	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334607	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335002	0.98[EUR][1000 genomes]
rs56341545	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404404	0.89[EUR][1000 genomes]
rs57248532	0.85[EUR][1000 genomes]
rs59418195	0.93[EUR][1000 genomes]
rs6571907	0.80[EUR][1000 genomes]
rs67808375	0.98[EUR][1000 genomes]
rs67970726	0.81[EUR][1000 genomes]
rs7147914	0.89[EUR][1000 genomes]
rs7148908	0.86[EUR][1000 genomes]
rs7150638	0.90[EUR][1000 genomes]
rs7161065	0.84[EUR][1000 genomes]
rs72669383	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669388	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669397	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669399	0.89[EUR][1000 genomes]
rs72669400	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671304	0.89[EUR][1000 genomes]
rs72671307	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671309	0.87[EUR][1000 genomes]
rs72671311	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671316	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671332	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671333	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671344	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671349	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671353	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671360	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671367	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671379	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671382	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671387	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671398	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671400	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673307	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673314	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673315	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673316	0.98[EUR][1000 genomes]
rs72673317	0.98[EUR][1000 genomes]
rs72673318	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72673328	0.93[EUR][1000 genomes]
rs72673329	0.93[EUR][1000 genomes]
rs72673339	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72673340	0.86[EUR][1000 genomes]
rs72673346	0.89[EUR][1000 genomes]
rs72673350	0.89[EUR][1000 genomes]
rs72673357	0.87[EUR][1000 genomes]
rs72673359	0.85[EUR][1000 genomes]
rs8009457	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39498000-39524200	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:39498200-39524200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:39498200-39524400	Strong transcription	Fetal Intestine Large	intestine
4	chr14:39498400-39524800	Weak transcription	K562	blood
5	chr14:39498600-39524800	Strong transcription	Adipose Nuclei	Adipose
6	chr14:39499000-39524200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr14:39499000-39524800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:39499000-39524800	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:39499000-39525000	Strong transcription	Liver	Liver
10	chr14:39499600-39524600	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:39500000-39524400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr14:39500000-39524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:39500000-39525000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:39501400-39524800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:39502600-39524200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:39506200-39524800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:39508000-39524400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:39510000-39524200	Weak transcription	Fetal Brain Male	brain
19	chr14:39510000-39524400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:39511000-39524600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:39511000-39524600	Strong transcription	Placenta	Placenta
22	chr14:39511200-39524200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:39511200-39524800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr14:39511200-39525000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr14:39511400-39524200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr14:39512600-39524400	Strong transcription	Fetal Thymus	thymus
27	chr14:39512600-39525000	Strong transcription	Fetal Lung	lung
28	chr14:39513600-39525000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:39514000-39524200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:39514800-39524200	Strong transcription	Primary T cells from cord blood	blood
31	chr14:39514800-39524400	Strong transcription	Fetal Muscle Leg	muscle
32	chr14:39514800-39524800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr14:39514800-39525000	Strong transcription	Left Ventricle	heart
34	chr14:39515200-39524200	Strong transcription	Primary B cells from cord blood	blood
35	chr14:39515200-39524400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:39515200-39525000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr14:39516000-39525000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:39516600-39524800	Weak transcription	NHEK	skin
39	chr14:39516600-39525000	Weak transcription	Stomach Mucosa	stomach
40	chr14:39517400-39525000	Strong transcription	Fetal Stomach	stomach
41	chr14:39517800-39525200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:39518800-39525000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:39518800-39527000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:39519000-39524400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:39519400-39524200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:39519400-39524200	Strong transcription	Rectal Smooth Muscle	rectum
47	chr14:39519400-39524400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:39519400-39524400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:39519400-39524800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:39519400-39524800	Strong transcription	Gastric	stomach

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