Variant report

Variant	rs4945849
Chromosome Location	chr6:110416868-110416869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10499057	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11753534	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs17071278	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17071283	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2334322	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs4945852	1.00[ASW][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs4947046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4947047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4947049	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947059	0.88[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs61497634	0.82[ASN][1000 genomes]
rs6918148	0.83[JPT][hapmap]
rs6933258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7766653	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs931020	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9487325	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs9487327	0.88[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886535	chr6:110377006-110551463	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1023185	chr6:110386197-110416868	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv2757188	chr6:110389926-110504680	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv2759462	chr6:110389926-110504680	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1017890	chr6:110394894-110416868	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1026085	chr6:110396676-110420721	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv604499	chr6:110401183-110420374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv1792799	chr6:110411065-110566597	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110402800-110419800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:110405400-110418000	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:110405600-110422800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:110405800-110417200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:110405800-110422800	Weak transcription	Ovary	ovary
6	chr6:110408800-110418400	Weak transcription	Fetal Stomach	stomach
7	chr6:110410400-110422800	Weak transcription	Primary B cells from cord blood	blood
8	chr6:110411200-110419800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:110411200-110422800	Weak transcription	NH-A	brain
10	chr6:110411600-110420000	Weak transcription	Fetal Brain Female	brain
11	chr6:110412200-110419800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:110412600-110419800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:110413400-110418200	Weak transcription	Fetal Kidney	kidney
14	chr6:110413800-110417600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:110414400-110421000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:110414800-110418000	Enhancers	NHEK	skin
17	chr6:110415000-110417800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr6:110415000-110419200	Enhancers	HUVEC	blood vessel
19	chr6:110415000-110420800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr6:110415400-110417400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:110415600-110418000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:110415800-110419000	Enhancers	Brain Anterior Caudate	brain
23	chr6:110416000-110417200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:110416000-110417600	Enhancers	Brain Substantia Nigra	brain
25	chr6:110416000-110417800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:110416000-110419000	Enhancers	NHLF	lung
27	chr6:110416000-110419200	Enhancers	Brain Hippocampus Middle	brain
28	chr6:110416200-110417400	Weak transcription	HMEC	breast
29	chr6:110416200-110418000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:110416400-110417200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:110416400-110418400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:110416600-110418600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:110416600-110419800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:110416600-110420000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:110416600-110422200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:110416600-110422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:110416800-110417000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:110416800-110417200	Weak transcription	Brain Angular Gyrus	brain
39	chr6:110416800-110417200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:110416800-110419200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:110416800-110419200	Enhancers	NHDF-Ad	bronchial

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