Variant report

Variant	rs1256417
Chromosome Location	chr14:65563678-65563679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65560947..65564608-chr14:65566060..65569242,4	K562	blood:
2	chr14:65562648..65566142-chr14:65569312..65572433,3	K562	blood:
3	chr14:65558796..65564739-chr14:65566972..65570414,12	MCF-7	breast:
4	chr14:65557283..65560955-chr14:65563018..65566025,3	K562	blood:
5	chr14:65550861..65552492-chr14:65562559..65565476,2	MCF-7	breast:
6	chr14:65560947..65564339-chr14:65566060..65569042,5	K562	blood:
7	chr14:65563116..65565005-chr14:65565094..65566679,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125952	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10143198	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10151162	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158572	0.82[EUR][1000 genomes]
rs11158573	0.81[EUR][1000 genomes]
rs11158574	0.81[EUR][1000 genomes]
rs1124751	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1124752	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11625045	0.86[EUR][1000 genomes]
rs11626720	0.80[EUR][1000 genomes]
rs12147959	0.81[EUR][1000 genomes]
rs1270074	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1271582	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880781	0.82[EUR][1000 genomes]
rs12888794	0.82[EUR][1000 genomes]
rs1953228	0.87[EUR][1000 genomes]
rs1953232	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1957948	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957949	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1998688	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093989	0.94[EUR][1000 genomes]
rs2151755	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2763888	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2781373	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2781374	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2781375	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34459643	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35410051	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35520739	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35769504	0.81[EUR][1000 genomes]
rs45604339	0.84[EUR][1000 genomes]
rs4899161	0.92[EUR][1000 genomes]
rs4902357	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902358	0.86[EUR][1000 genomes]
rs4902359	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902360	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902361	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902362	0.88[ASN][1000 genomes]
rs55658675	0.86[EUR][1000 genomes]
rs7143495	0.81[EUR][1000 genomes]
rs7145112	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7146939	0.83[ASN][1000 genomes]
rs7150646	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152277	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7154852	0.87[EUR][1000 genomes]
rs7156617	0.93[EUR][1000 genomes]
rs7158239	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7159443	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7161394	0.87[EUR][1000 genomes]
rs762810	0.80[EUR][1000 genomes]
rs8005829	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008095	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8009396	0.82[EUR][1000 genomes]
rs8009714	0.82[EUR][1000 genomes]
rs8010213	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8015921	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8181937	0.83[EUR][1000 genomes]
rs8181938	0.83[EUR][1000 genomes]
rs8181939	0.87[EUR][1000 genomes]
rs884683	0.82[EUR][1000 genomes]
rs942626	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs942627	0.87[EUR][1000 genomes]
rs942628	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs942629	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs998247	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65548800-65564800	Strong transcription	HUVEC	blood vessel
2	chr14:65553400-65565200	Strong transcription	Hela-S3	cervix
3	chr14:65555000-65565400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:65555800-65565200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:65556400-65567200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:65556400-65567600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:65556400-65569000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:65556800-65567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:65557000-65564400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr14:65557000-65565400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:65557200-65566800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:65557600-65568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:65558800-65564000	Genic enhancers	Fetal Intestine Small	intestine
14	chr14:65558800-65565200	Enhancers	Stomach Mucosa	stomach
15	chr14:65560400-65563800	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr14:65560400-65563800	Enhancers	Psoas Muscle	Psoas
17	chr14:65560400-65564800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:65560400-65565000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr14:65560600-65564200	Enhancers	Right Ventricle	heart
20	chr14:65560600-65567800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:65560600-65568000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:65560800-65564200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:65560800-65565000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr14:65560800-65568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:65561000-65563800	Enhancers	Right Atrium	heart
26	chr14:65561000-65564800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:65561000-65567400	Weak transcription	A549	lung
28	chr14:65561000-65567800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:65561200-65563800	Genic enhancers	Fetal Muscle Leg	muscle
30	chr14:65561200-65564600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
31	chr14:65561600-65563800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:65561600-65564000	Enhancers	Brain Cingulate Gyrus	brain
33	chr14:65561600-65564800	Genic enhancers	Primary T cells from cord blood	blood
34	chr14:65561600-65567800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:65561600-65568400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:65561800-65564600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr14:65561800-65564800	Genic enhancers	Primary hematopoietic stem cells	blood
38	chr14:65561800-65565000	Enhancers	Brain Substantia Nigra	brain
39	chr14:65561800-65565600	Enhancers	Brain Anterior Caudate	brain
40	chr14:65561800-65566800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:65562000-65563800	Enhancers	Brain Hippocampus Middle	brain
42	chr14:65562000-65564200	Enhancers	Gastric	stomach
43	chr14:65562000-65565200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr14:65562000-65565200	Enhancers	Small Intestine	intestine
45	chr14:65562000-65565600	Genic enhancers	Fetal Intestine Large	intestine
46	chr14:65562200-65563800	Enhancers	Fetal Kidney	kidney
47	chr14:65562200-65564000	Enhancers	Brain Angular Gyrus	brain
48	chr14:65562200-65564000	Enhancers	Left Ventricle	heart
49	chr14:65562200-65564800	Weak transcription	HepG2	liver
50	chr14:65562200-65565000	Genic enhancers	Fetal Thymus	thymus

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