Variant report

Variant	rs55708493
Chromosome Location	chr14:31431982-31431983
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	chr14:31428661..31430231-chr14:31430956..31433408,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10459471	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483355	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483356	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483359	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11625390	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627379	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17097531	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17097608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097617	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977130	0.83[AMR][1000 genomes]
rs2064823	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2073204	1.00[AFR][1000 genomes]
rs2281563	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2378815	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784158	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55843943	0.83[AMR][1000 genomes]
rs56136496	0.83[AMR][1000 genomes]
rs60862458	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60990438	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61129484	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571374	0.83[AMR][1000 genomes]
rs7140551	0.83[AMR][1000 genomes]
rs72668381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670303	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8008526	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31360200-31435600	Weak transcription	Gastric	stomach
3	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
4	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
5	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
6	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
8	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
9	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:31395000-31435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:31395000-31435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:31410600-31435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:31413400-31435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:31414800-31434200	Weak transcription	Fetal Kidney	kidney
15	chr14:31415000-31437200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:31415800-31435200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:31416000-31433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:31416000-31435200	Weak transcription	Spleen	Spleen
19	chr14:31416000-31435400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:31416000-31435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:31416000-31435600	Weak transcription	NHLF	lung
22	chr14:31416200-31433600	Weak transcription	Fetal Brain Female	brain
23	chr14:31416200-31434000	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:31416200-31435600	Weak transcription	Thymus	Thymus
25	chr14:31416600-31435600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:31416600-31435800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:31416800-31433200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:31417000-31435200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:31417000-31435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:31418200-31434000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:31419200-31434000	Weak transcription	HSMMtube	muscle
32	chr14:31419400-31432400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:31420000-31435400	Weak transcription	Fetal Thymus	thymus
34	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:31420800-31433200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr14:31420800-31435400	Weak transcription	NHDF-Ad	bronchial
37	chr14:31423200-31433000	Weak transcription	Fetal Stomach	stomach
38	chr14:31423200-31433200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:31423200-31433200	Weak transcription	Fetal Brain Male	brain
40	chr14:31423200-31433200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:31423200-31435200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:31423200-31435200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:31423400-31433000	Weak transcription	K562	blood
44	chr14:31423400-31433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:31423400-31435400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:31423400-31435400	Weak transcription	NHEK	skin
47	chr14:31423400-31435600	Weak transcription	Hela-S3	cervix
48	chr14:31423800-31433600	Weak transcription	Fetal Lung	lung
49	chr14:31424000-31435200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:31424200-31433600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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