Variant report

Variant	rs3783292
Chromosome Location	chr14:39786823-39786824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39735315..39738044-chr14:39785494..39787900,2	K562	blood:
2	chr14:39646967..39649326-chr14:39786577..39789569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100941	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000150527	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10130584	0.85[EUR][1000 genomes]
rs10130959	0.82[CEU][hapmap]
rs10135713	0.82[EUR][1000 genomes]
rs10142118	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10143290	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10144680	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10148678	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10148762	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10150863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040811	0.88[EUR][1000 genomes]
rs10483539	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10782392	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10872919	0.88[EUR][1000 genomes]
rs11157055	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12434446	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2025029	0.82[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2094275	1.00[JPT][hapmap]
rs2099409	0.95[EUR][1000 genomes]
rs2117338	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2274398	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	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6571914	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6571916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571917	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6571918	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158633	0.88[EUR][1000 genomes]
rs7159584	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8010635	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8010826	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs8012235	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8019161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[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:118 , 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	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
3	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
6	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:39759400-39801800	Weak transcription	NHLF	lung
11	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
12	chr14:39764600-39790000	Weak transcription	Fetal Brain Female	brain
13	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:39764800-39802400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:39764800-39805200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:39765600-39789400	Weak transcription	HMEC	breast
18	chr14:39765600-39803800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:39766800-39790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:39766800-39791800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:39767000-39796000	Weak transcription	Thymus	Thymus
23	chr14:39767200-39801400	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:39767200-39801600	Weak transcription	Right Ventricle	heart
25	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
26	chr14:39769800-39796000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:39769800-39796000	Weak transcription	Dnd41	blood
28	chr14:39769800-39808000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:39770000-39816400	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
32	chr14:39771800-39789600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:39771800-39791800	Weak transcription	HUVEC	blood vessel
34	chr14:39771800-39792000	Weak transcription	A549	lung
35	chr14:39771800-39796200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:39772000-39796200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr14:39772200-39791800	Weak transcription	HSMMtube	muscle
38	chr14:39772600-39808000	Weak transcription	Fetal Heart	heart
39	chr14:39773200-39802400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:39773400-39801800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:39773600-39787200	Weak transcription	HSMM	muscle
42	chr14:39774600-39789200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:39775000-39787200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:39778600-39791800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:39778800-39796200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:39779000-39789400	Weak transcription	Osteobl	bone
47	chr14:39779000-39801400	Weak transcription	Fetal Thymus	thymus
48	chr14:39780000-39801000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:39781400-39794400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:39782800-39808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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