Variant report

Variant	rs761804
Chromosome Location	chr14:39627747-39627748
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	chr14:39627588..39630003-chr14:39640583..39643561,2	MCF-7	breast:
2	chr14:39591499..39594370-chr14:39626411..39628050,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10132034	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10132953	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10149829	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11157046	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157047	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157048	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434607	0.95[AMR][1000 genomes]
rs12895329	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs175341	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950509	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1955917	0.85[EUR][1000 genomes]
rs1956629	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1964842	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2038357	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082637	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2099410	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2180214	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2180217	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2180792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3899404	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4290398	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616209	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899139	0.85[EUR][1000 genomes]
rs4899140	0.85[EUR][1000 genomes]
rs4902294	0.85[EUR][1000 genomes]
rs4902402	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902436	0.81[AMR][1000 genomes]
rs56163817	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6571888	0.85[EUR][1000 genomes]
rs6571889	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6571890	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6571891	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6571894	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6571895	0.86[AMR][1000 genomes]
rs6571896	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571897	0.85[ASN][1000 genomes]
rs6571904	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6571905	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7147760	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154585	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs761806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003194	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8003485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007063	0.89[AMR][1000 genomes]
rs8010111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011855	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012178	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8014255	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021225	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8022141	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322993	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671927	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970623	0.80[EUR][1000 genomes]
rs975591	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
2	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
4	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
5	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:39608200-39630600	Weak transcription	NHEK	skin
7	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:39611400-39638000	Weak transcription	A549	lung
10	chr14:39612000-39631600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:39614200-39628200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:39614400-39636800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:39614800-39636800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:39616200-39632200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:39616200-39632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:39616200-39632600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:39616200-39637000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:39616800-39629600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:39616800-39629600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:39616800-39632200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:39616800-39636400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:39617000-39628000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:39617000-39632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:39617000-39634800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:39617000-39636200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr14:39617200-39628000	Strong transcription	Adipose Nuclei	Adipose
28	chr14:39617200-39628000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr14:39617200-39635800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr14:39617600-39632400	Strong transcription	Fetal Thymus	thymus
31	chr14:39617600-39637800	Weak transcription	Psoas Muscle	Psoas
32	chr14:39617800-39637400	Weak transcription	K562	blood
33	chr14:39619600-39628200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:39619600-39636200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:39619600-39637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:39619800-39636200	Strong transcription	Fetal Stomach	stomach
37	chr14:39620000-39630000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:39620000-39630800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:39620200-39629400	Weak transcription	HMEC	breast
40	chr14:39620800-39628000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:39621000-39632000	Strong transcription	Primary B cells from cord blood	blood
42	chr14:39621000-39638400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:39621200-39628200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:39622000-39633600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:39622200-39630600	Weak transcription	Brain Substantia Nigra	brain
46	chr14:39622400-39630000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:39623200-39630800	Weak transcription	Right Ventricle	heart
48	chr14:39624400-39638000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:39624800-39628400	Strong transcription	Dnd41	blood
50	chr14:39625000-39628200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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