Variant report

Variant	rs16889714
Chromosome Location	chr6:34385517-34385518
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34206861..34220421-chr6:34379359..34386848,24	K562	blood:
2	chr6:34111438..34113496-chr6:34384142..34385841,2	MCF-7	breast:
3	chr6:34379707..34381540-chr6:34384149..34385889,2	MCF-7	breast:
4	chr6:34204321..34205956-chr6:34384818..34387597,2	K562	blood:
5	chr6:34356693..34361584-chr6:34376924..34385699,12	K562	blood:
6	chr6:34212124..34218246-chr6:34379945..34387655,19	K562	blood:
7	chr6:34379437..34382145-chr6:34384252..34386142,2	MCF-7	breast:
8	chr6:34384595..34386120-chr6:35175075..35178043,2	K562	blood:
9	chr6:34162021..34165758-chr6:34380623..34387316,6	K562	blood:
10	chr6:34358377..34360251-chr6:34384641..34386602,2	MCF-7	breast:
11	chr6:34306948..34308563-chr6:34383951..34386778,2	K562	blood:
12	chr6:34211137..34213160-chr6:34384345..34386352,2	MCF-7	breast:
13	chr6:34218726..34220421-chr6:34383770..34386594,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186577	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000272325	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12662460	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12664001	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12664016	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12665397	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1573905	1.00[CEU][hapmap]
rs16885998	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16889706	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs206921	0.81[JPT][hapmap]
rs206936	0.81[JPT][hapmap]
rs2071928	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2395562	0.81[AMR][1000 genomes]
rs28847046	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34384951	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3778077	1.00[CEU][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798562	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3800476	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3800477	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4295465	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4336441	0.82[AMR][1000 genomes]
rs4711390	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713766	1.00[CEU][hapmap]
rs4713770	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4713772	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4713773	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4713774	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4713775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713777	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4713780	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713781	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713783	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4713784	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4713786	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4713787	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4713793	0.82[AMR][1000 genomes]
rs58648597	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59310759	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60100381	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61582147	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6909732	1.00[CEU][hapmap]
rs6924682	0.85[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6925243	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6933172	0.86[AFR][1000 genomes]
rs6935129	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7752035	0.86[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7767431	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7775635	0.87[ASN][1000 genomes]
rs9348940	0.89[AMR][1000 genomes]
rs9368815	0.83[AMR][1000 genomes]
rs9368817	0.82[AMR][1000 genomes]
rs9380439	0.82[AMR][1000 genomes]
rs9394200	1.00[CEU][hapmap]
rs9766229	0.91[AMR][1000 genomes];0.88[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	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	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv981133	chr6:34385156-34393521	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34372400-34389400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:34379200-34391800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:34381800-34391000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:34382000-34388000	Strong transcription	Dnd41	blood
5	chr6:34382000-34390000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:34382000-34391600	Strong transcription	NHEK	skin
7	chr6:34382000-34392000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:34382000-34392000	Strong transcription	Primary T cells from cord blood	blood
9	chr6:34382400-34389400	Strong transcription	K562	blood
10	chr6:34382400-34389600	Weak transcription	Fetal Brain Male	brain
11	chr6:34382400-34391800	Strong transcription	NHDF-Ad	bronchial
12	chr6:34382400-34392000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr6:34382400-34392000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:34382400-34392000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:34382600-34387600	Weak transcription	Fetal Kidney	kidney
16	chr6:34382600-34387800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:34382600-34392000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:34382800-34386000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:34383000-34391000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:34383000-34392200	Weak transcription	Right Atrium	heart
21	chr6:34383200-34385600	Genic enhancers	HepG2	liver
22	chr6:34383200-34389200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:34383200-34389400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:34383200-34391600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:34383200-34391600	Strong transcription	Fetal Thymus	thymus
26	chr6:34383400-34389400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:34383400-34390000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:34383400-34390000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:34383400-34390000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:34383400-34392000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr6:34383400-34392000	Strong transcription	Fetal Lung	lung
32	chr6:34383400-34392600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:34383400-34392600	Strong transcription	Lung	lung
34	chr6:34383600-34386800	Strong transcription	Brain Germinal Matrix	brain
35	chr6:34383600-34389000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:34383600-34389400	Strong transcription	GM12878-XiMat	blood
37	chr6:34383600-34390200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:34383600-34391200	Strong transcription	Osteobl	bone
39	chr6:34383600-34391400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:34383600-34391400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:34383600-34391400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr6:34383600-34391600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:34383600-34391600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:34383600-34392000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:34383600-34392000	Strong transcription	Fetal Brain Female	brain
46	chr6:34383600-34392000	Strong transcription	Fetal Intestine Small	intestine
47	chr6:34383600-34392000	Strong transcription	Thymus	Thymus
48	chr6:34383600-34392200	Strong transcription	Fetal Muscle Leg	muscle
49	chr6:34383600-34392600	Strong transcription	Fetal Intestine Large	intestine
50	chr6:34383800-34386000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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