Variant report

Variant	rs2274398
Chromosome Location	chr14:39773639-39773640
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39638168..39640870-chr14:39773563..39775352,2	MCF-7	breast:
2	chr14:39773328..39774928-chr14:39778014..39779995,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10130584	0.85[EUR][1000 genomes]
rs10135713	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10142118	0.93[EUR][1000 genomes]
rs10143290	0.85[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10144680	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10148678	0.93[EUR][1000 genomes]
rs10148762	0.85[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10150863	1.00[CHB][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040811	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10483539	0.85[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10782392	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10872919	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11157055	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12434446	0.85[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2025029	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2099409	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2117338	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3783292	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899219	1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902500	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6571914	0.85[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571916	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571917	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6571918	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158633	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7159584	0.88[EUR][1000 genomes]
rs8010145	0.87[AMR][1000 genomes]
rs8010635	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs8010826	0.85[EUR][1000 genomes]
rs8012235	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8019161	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39746200-39776600	Weak transcription	K562	blood
3	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
5	chr14:39755400-39775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:39755400-39783400	Strong transcription	Liver	Liver
7	chr14:39755600-39780400	Strong transcription	HepG2	liver
8	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:39756200-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
12	chr14:39756400-39774000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:39757000-39783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:39757200-39773800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:39759400-39801800	Weak transcription	NHLF	lung
20	chr14:39760000-39775800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:39761000-39775200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr14:39762200-39774200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
24	chr14:39762600-39774400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:39763400-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:39764000-39786200	Weak transcription	Brain Substantia Nigra	brain
27	chr14:39764400-39785400	Weak transcription	Esophagus	oesophagus
28	chr14:39764600-39785600	Weak transcription	Gastric	stomach
29	chr14:39764600-39785600	Weak transcription	Psoas Muscle	Psoas
30	chr14:39764600-39790000	Weak transcription	Fetal Brain Female	brain
31	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:39764800-39778200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:39764800-39802400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:39764800-39805200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:39765000-39785800	Weak transcription	Lung	lung
37	chr14:39765400-39785600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:39765600-39789400	Weak transcription	HMEC	breast
39	chr14:39765600-39803800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:39765800-39785400	Weak transcription	Brain Angular Gyrus	brain
42	chr14:39766000-39783000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:39766600-39775800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:39766800-39790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:39766800-39791800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:39767000-39785400	Weak transcription	Aorta	Aorta
47	chr14:39767000-39785400	Weak transcription	Ovary	ovary
48	chr14:39767000-39785400	Weak transcription	Spleen	Spleen
49	chr14:39767000-39785600	Weak transcription	Fetal Muscle Leg	muscle
50	chr14:39767000-39796000	Weak transcription	Thymus	Thymus

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