Variant report

Variant	rs998247
Chromosome Location	chr14:65546299-65546300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65542480..65545199-chr14:65545922..65548656,2	MCF-7	breast:
2	chr14:65540391..65543232-chr14:65544493..65546797,2	K562	blood:
3	chr14:65536598..65540126-chr14:65544399..65547466,3	MCF-7	breast:
4	chr14:65544997..65548177-chr14:65565453..65571553,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125952	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10143198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10151162	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158574	0.83[CEU][hapmap]
rs11158577	0.84[CEU][hapmap]
rs1124751	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1124752	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12433870	0.86[YRI][hapmap]
rs1256417	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1270074	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1271582	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1953232	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1957948	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1998688	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2093989	0.84[EUR][1000 genomes]
rs2151755	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2296316	0.81[CEU][hapmap]
rs2763888	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2781373	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2781374	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2781375	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34459643	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35410051	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35520739	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4899161	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs4902357	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902359	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902360	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902361	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902362	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7145112	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7146939	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7150646	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152277	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7156617	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs7158239	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7159443	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8005829	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008095	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8010213	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8011585	0.80[EUR][1000 genomes]
rs8015921	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8181939	0.80[CEU][hapmap]
rs868814	0.81[CEU][hapmap]
rs942626	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs942628	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs942629	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[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	chr14:65527800-65553600	Strong transcription	Dnd41	blood
2	chr14:65528800-65555400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:65530000-65553000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:65534000-65553600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:65534800-65553400	Strong transcription	Thymus	Thymus
6	chr14:65535600-65547000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:65536000-65553600	Strong transcription	Fetal Thymus	thymus
8	chr14:65538600-65547000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:65538600-65547000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:65538800-65553600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:65538800-65562000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:65539000-65551000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:65539000-65562400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:65539200-65548800	Strong transcription	NHEK	skin
15	chr14:65539200-65550800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr14:65539200-65551400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:65539400-65551000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:65539400-65552400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:65539600-65547200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:65539600-65547400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:65539600-65563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:65539800-65547200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:65539800-65547400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:65539800-65553200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:65540400-65548000	Strong transcription	Osteobl	bone
26	chr14:65541000-65551600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr14:65541600-65551000	Strong transcription	NH-A	brain
28	chr14:65541600-65552400	Strong transcription	Hela-S3	cervix
29	chr14:65541800-65549800	Strong transcription	HepG2	liver
30	chr14:65542000-65546600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr14:65542000-65547400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr14:65542000-65548800	Strong transcription	A549	lung
33	chr14:65542200-65546600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr14:65542200-65547200	Strong transcription	Liver	Liver
35	chr14:65542200-65547400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:65542200-65547600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:65542200-65548000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:65542200-65548800	Strong transcription	HMEC	breast
39	chr14:65542400-65550400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:65542800-65550800	Strong transcription	Fetal Lung	lung
41	chr14:65543000-65547400	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr14:65543000-65550800	Strong transcription	HSMMtube	muscle
43	chr14:65543400-65549200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:65543800-65548000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:65543800-65551000	Genic enhancers	Fetal Intestine Large	intestine
46	chr14:65544000-65552400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:65544400-65553600	Weak transcription	Fetal Brain Male	brain
48	chr14:65544600-65548400	Weak transcription	NHDF-Ad	bronchial
49	chr14:65544600-65551400	Genic enhancers	Fetal Intestine Small	intestine
50	chr14:65544600-65553600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links