Variant report

Variant	rs6916042
Chromosome Location	chr6:167038826-167038827
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	chr6:167027136..167029744-chr6:167037956..167040696,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12196315	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12203904	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12204787	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3778367	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3778369	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3778370	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3778371	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3778372	0.80[EUR][1000 genomes]
rs3778373	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3778375	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3799570	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3799571	0.80[EUR][1000 genomes]
rs58727224	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60145177	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72503823	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs873070	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs873071	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs874153	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167029200-167039000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:167032600-167039400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:167032800-167039000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:167032800-167039000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:167033200-167039000	Enhancers	HUVEC	blood vessel
6	chr6:167033600-167039000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:167034400-167039000	Weak transcription	Liver	Liver
8	chr6:167034600-167039000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:167034800-167039000	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:167034800-167039000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:167034800-167039000	Weak transcription	Fetal Brain Male	brain
12	chr6:167034800-167039000	Weak transcription	Fetal Kidney	kidney
13	chr6:167034800-167039200	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:167034800-167039400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:167034800-167039800	Weak transcription	Spleen	Spleen
16	chr6:167035200-167039200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:167035400-167039400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:167036200-167039200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:167036600-167039000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:167036600-167039400	Enhancers	Fetal Heart	heart
21	chr6:167036800-167039000	Enhancers	Right Atrium	heart
22	chr6:167036800-167039200	Enhancers	Ovary	ovary
23	chr6:167036800-167039600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:167037200-167039000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:167037200-167039000	Weak transcription	NH-A	brain
26	chr6:167037200-167039400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:167037200-167039400	Weak transcription	Brain Angular Gyrus	brain
28	chr6:167037200-167039400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:167037200-167039600	Weak transcription	Aorta	Aorta
30	chr6:167037200-167039600	Weak transcription	Esophagus	oesophagus
31	chr6:167037200-167039600	Weak transcription	Gastric	stomach
32	chr6:167037200-167039600	Weak transcription	Small Intestine	intestine
33	chr6:167037200-167039800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:167037600-167039000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:167037800-167039000	Enhancers	Brain Cingulate Gyrus	brain
36	chr6:167037800-167039000	Enhancers	Brain Substantia Nigra	brain
37	chr6:167037800-167039000	Enhancers	Fetal Stomach	stomach
38	chr6:167037800-167040000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:167038000-167039000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:167038000-167039200	Enhancers	Fetal Muscle Leg	muscle
41	chr6:167038000-167039600	Enhancers	Placenta Amnion	Placenta Amnion
42	chr6:167038200-167039200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:167038200-167041800	Active TSS	Right Ventricle	heart
44	chr6:167038400-167039000	Weak transcription	Brain Anterior Caudate	brain
45	chr6:167038400-167042200	Active TSS	Psoas Muscle	Psoas
46	chr6:167038600-167039000	Active TSS	Adipose Nuclei	Adipose
47	chr6:167038600-167039000	Enhancers	Fetal Brain Female	brain
48	chr6:167038600-167039000	Flanking Active TSS	Left Ventricle	heart
49	chr6:167038600-167039400	Enhancers	Stomach Mucosa	stomach
50	chr6:167038600-167040000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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