Variant report

Variant	rs17055834
Chromosome Location	chr6:128732467-128732468
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1416518	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1890543	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2326682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4351279	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs4895834	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57524201	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6569526	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589563	0.92[AFR][1000 genomes]
rs73589569	0.81[AFR][1000 genomes]
rs73589574	0.90[AFR][1000 genomes]
rs73589577	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7754771	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7758826	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs8180639	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs9388633	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946425	0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946426	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][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	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128688800-128738800	Weak transcription	Psoas Muscle	Psoas
2	chr6:128697800-128733400	Weak transcription	HSMM	muscle
3	chr6:128698800-128743200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:128703200-128743000	Weak transcription	Pancreas	Pancrea
5	chr6:128710200-128739800	Weak transcription	Fetal Intestine Large	intestine
6	chr6:128712000-128733800	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:128712800-128733600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:128715600-128733600	Weak transcription	Brain Anterior Caudate	brain
9	chr6:128715600-128743000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:128715800-128736200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:128716600-128736000	Weak transcription	Brain Substantia Nigra	brain
12	chr6:128716600-128739400	Weak transcription	Aorta	Aorta
13	chr6:128716800-128738400	Weak transcription	Fetal Heart	heart
14	chr6:128717200-128739600	Weak transcription	NH-A	brain
15	chr6:128721800-128733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:128722000-128738600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:128722400-128740000	Weak transcription	Right Ventricle	heart
18	chr6:128724200-128733600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:128726200-128733800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:128726600-128733600	Weak transcription	NHEK	skin
21	chr6:128728000-128736000	Weak transcription	Fetal Kidney	kidney
22	chr6:128728200-128739000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:128728400-128738800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:128728600-128739400	Weak transcription	Fetal Intestine Small	intestine
25	chr6:128728600-128742800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:128728800-128736200	Weak transcription	HepG2	liver
27	chr6:128728800-128748000	Weak transcription	Ovary	ovary
28	chr6:128731000-128753400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:128731400-128735400	Weak transcription	Small Intestine	intestine
30	chr6:128731800-128733600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:128731800-128734400	Weak transcription	Primary T cells from cord blood	blood
32	chr6:128732000-128733000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:128732000-128733400	Weak transcription	HSMMtube	muscle
34	chr6:128732000-128733600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:128732200-128732600	Weak transcription	Brain Angular Gyrus	brain
36	chr6:128732200-128733600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:128732200-128738800	Weak transcription	Osteobl	bone
38	chr6:128732200-128739000	Weak transcription	Fetal Thymus	thymus
39	chr6:128732400-128733600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:128732400-128739400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:128732400-128739400	Weak transcription	Left Ventricle	heart
42	chr6:128732400-128752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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