Variant report

Variant	rs6685072
Chromosome Location	chr1:180580337-180580338
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180578916..180585462-chr1:180598253..180604360,12	K562	blood:
2	chr1:180579138..180584486-chr1:180589847..180594311,7	K562	blood:
3	chr1:180574903..180577606-chr1:180578788..180581202,6	K562	blood:
4	chr1:180469912..180472477-chr1:180578987..180581511,4	K562	blood:
5	chr1:180553221..180556764-chr1:180577641..180580493,4	K562	blood:
6	chr1:180528108..180531443-chr1:180577371..180581395,4	K562	blood:
7	chr1:180578726..180581333-chr1:180585723..180589157,4	K562	blood:
8	chr1:180568988..180574820-chr1:180577415..180583388,9	K562	blood:
9	chr1:180578692..180581890-chr1:180600234..180603494,4	K562	blood:
10	chr1:180470469..180472477-chr1:180578987..180581392,2	K562	blood:
11	chr1:180557940..180560116-chr1:180578867..180581193,3	K562	blood:
12	chr1:180529943..180534795-chr1:180578153..180581956,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction
ENSG00000135847	Chromatin interaction
ENSG00000236719	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12022562	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12038863	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12041936	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12048332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12048335	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16856306	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331886	0.86[CHB][hapmap]
rs3908501	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4083591	0.87[CHB][hapmap]
rs6658133	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6661022	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6669245	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6679173	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72720986	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7514404	0.84[CHB][hapmap]

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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180578000-180587200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:180578400-180580600	Enhancers	Pancreas	Pancrea
3	chr1:180578600-180582000	Flanking Active TSS	K562	blood
4	chr1:180578800-180580400	Enhancers	Placenta	Placenta
5	chr1:180578800-180580600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:180578800-180580800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:180578800-180580800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:180578800-180581000	Enhancers	HMEC	breast
9	chr1:180578800-180581200	Enhancers	Fetal Lung	lung
10	chr1:180578800-180581600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:180578800-180581600	Enhancers	NHEK	skin
12	chr1:180578800-180581800	Enhancers	Fetal Heart	heart
13	chr1:180579000-180580400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:180579000-180580400	Enhancers	Lung	lung
15	chr1:180579000-180580600	Enhancers	Esophagus	oesophagus
16	chr1:180579000-180580600	Enhancers	Left Ventricle	heart
17	chr1:180579000-180580600	Enhancers	HSMMtube	muscle
18	chr1:180579000-180580800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:180579000-180582000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:180579200-180580600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:180579400-180580400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:180579400-180580400	Enhancers	Right Ventricle	heart
23	chr1:180579400-180580600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:180579400-180580600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:180579400-180580800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:180579400-180580800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:180579400-180581000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:180579400-180584200	Weak transcription	Fetal Brain Male	brain
29	chr1:180579600-180580400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:180579600-180580400	Enhancers	Right Atrium	heart
31	chr1:180579600-180580600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:180579600-180580800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:180579600-180580800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:180579600-180581000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:180579800-180580600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:180579800-180585200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:180580000-180580400	Weak transcription	Stomach Mucosa	stomach
38	chr1:180580000-180581000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:180580000-180582200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:180580200-180580600	Enhancers	Fetal Thymus	thymus
41	chr1:180580200-180580800	Enhancers	Colon Smooth Muscle	Colon
42	chr1:180580200-180581000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:180580200-180581000	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:180580200-180581000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:180580200-180581000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:180580200-180581000	Enhancers	NHLF	lung
47	chr1:180580200-180581200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:180580200-180581400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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