Variant report

Variant	rs58600226
Chromosome Location	chr6:34328707-34328708
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	chr6:34214022..34216940-chr6:34327441..34329391,2	K562	blood:

Variant related genes	Relation type
ENSG00000186577	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs60933648	1.00[AMR][1000 genomes]
rs6912357	1.00[AMR][1000 genomes]
rs6931339	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7739644	1.00[AMR][1000 genomes]
rs7740217	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7750807	1.00[AMR][1000 genomes]
rs7764155	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7764521	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7769855	1.00[AMR][1000 genomes]
rs7771935	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7773228	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7775790	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1034978	chr6:34327526-34362187	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:34285200-34330600	Weak transcription	Thymus	Thymus
3	chr6:34306000-34328800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:34308800-34330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:34309600-34329200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:34309800-34329800	Weak transcription	Fetal Thymus	thymus
7	chr6:34309800-34330800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:34309800-34337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:34309800-34347200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:34310000-34330600	Weak transcription	Dnd41	blood
11	chr6:34310400-34329200	Weak transcription	Brain Angular Gyrus	brain
12	chr6:34310800-34330800	Weak transcription	Primary T cells from cord blood	blood
13	chr6:34315400-34351200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:34316200-34333400	Weak transcription	Placenta	Placenta
15	chr6:34317400-34330800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:34318200-34330600	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:34318200-34355800	Weak transcription	Brain Germinal Matrix	brain
18	chr6:34318400-34330000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:34318600-34330600	Weak transcription	Fetal Intestine Small	intestine
20	chr6:34318800-34330600	Weak transcription	Adipose Nuclei	Adipose
21	chr6:34320200-34330800	Weak transcription	Primary B cells from cord blood	blood
22	chr6:34320400-34330400	Weak transcription	Aorta	Aorta
23	chr6:34320400-34330800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:34320400-34330800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:34320400-34333400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:34320400-34350400	Weak transcription	Esophagus	oesophagus
27	chr6:34320600-34330600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:34320600-34331000	Weak transcription	Small Intestine	intestine
29	chr6:34321600-34328800	Weak transcription	GM12878-XiMat	blood
30	chr6:34322200-34329000	Weak transcription	K562	blood
31	chr6:34322200-34333600	Weak transcription	Lung	lung
32	chr6:34324200-34330600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:34325400-34331000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:34325600-34330600	Enhancers	Fetal Heart	heart
35	chr6:34325800-34328800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:34325800-34328800	Enhancers	NH-A	brain
37	chr6:34325800-34329200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:34325800-34329200	Enhancers	NHDF-Ad	bronchial
39	chr6:34325800-34329800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr6:34325800-34330600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:34326000-34329200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:34326200-34329000	Enhancers	HUVEC	blood vessel
43	chr6:34326400-34329000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:34326400-34329200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:34326400-34331600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:34326600-34330600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:34326600-34330800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:34326800-34329000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:34327000-34351600	Weak transcription	Ovary	ovary
50	chr6:34327200-34328800	Enhancers	NHLF	lung

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