Variant report

Variant	rs546311
Chromosome Location	chr6:165791239-165791240
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs3778248	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.94[ASN][1000 genomes]
rs3799148	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.94[ASN][1000 genomes]
rs3799156	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3799160	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs471607	0.97[ASN][1000 genomes]
rs472328	0.87[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs484842	0.87[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs509939	0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs513240	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs525643	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs541938	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs546221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs550868	0.97[ASN][1000 genomes]
rs551444	0.87[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55694649	0.96[ASN][1000 genomes]
rs56854061	0.96[ASN][1000 genomes]
rs62442142	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62442144	0.94[ASN][1000 genomes]
rs851951	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs851963	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432982	chr6:165528589-165835589	Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv605245	chr6:165542686-165845903	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS 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	2 gene(s)	inside rSNPs	diseases
3	nsv1031648	chr6:165544569-165841029	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv432983	chr6:165554403-165851585	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv3417270	chr6:165682773-166023032	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv886928	chr6:165722345-166197889	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs546311	DNTTIP1	trans	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165744800-165801200	Weak transcription	Hela-S3	cervix
2	chr6:165745600-165802800	Weak transcription	Fetal Heart	heart
3	chr6:165747400-165802600	Weak transcription	HSMMtube	muscle
4	chr6:165747600-165853000	Weak transcription	A549	lung
5	chr6:165763800-165797000	Weak transcription	Right Ventricle	heart
6	chr6:165763800-165797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:165764400-165813400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:165769800-165791800	Weak transcription	Left Ventricle	heart
9	chr6:165772000-165835800	Weak transcription	Fetal Kidney	kidney
10	chr6:165776200-165798800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:165779800-165805000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:165787400-165813400	Weak transcription	Fetal Lung	lung
13	chr6:165788000-165793200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:165788000-165793800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:165788000-165798400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:165788000-165856800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:165788400-165803600	Weak transcription	Fetal Stomach	stomach
18	chr6:165789400-165798200	Weak transcription	Fetal Brain Male	brain
19	chr6:165790000-165791600	Weak transcription	HSMM	muscle
20	chr6:165790000-165810600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:165790200-165831400	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:165790400-165804000	Weak transcription	Aorta	Aorta
23	chr6:165790400-165811400	Weak transcription	Ovary	ovary
24	chr6:165790600-165795600	Weak transcription	Brain Germinal Matrix	brain
25	chr6:165790600-165796800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:165790800-165798000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:165791200-165791600	Strong transcription	Fetal Brain Female	brain

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