Variant report

Variant	rs6696964
Chromosome Location	chr1:166133850-166133851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10494453	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10494455	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10494456	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10753713	0.81[ASN][1000 genomes]
rs10753714	0.81[ASN][1000 genomes]
rs10800198	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10800199	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800200	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800202	0.81[ASN][1000 genomes]
rs10918381	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918383	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10918384	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10918385	0.91[EUR][1000 genomes]
rs10918387	0.81[ASN][1000 genomes]
rs10918388	0.81[ASN][1000 genomes]
rs12023523	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12028067	0.81[ASN][1000 genomes]
rs12031538	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12076837	0.93[EUR][1000 genomes]
rs12126834	0.91[EUR][1000 genomes]
rs12136704	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12144426	0.90[EUR][1000 genomes]
rs12402371	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409766	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734750	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432119	0.91[EUR][1000 genomes]
rs1529642	0.93[EUR][1000 genomes]
rs1530889	0.93[EUR][1000 genomes]
rs1551179	0.93[EUR][1000 genomes]
rs1560570	0.80[ASN][1000 genomes]
rs16856734	0.81[ASN][1000 genomes]
rs1864791	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2116519	0.92[EUR][1000 genomes]
rs28568389	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4147072	0.81[ASN][1000 genomes]
rs4391646	0.80[ASN][1000 genomes]
rs4556335	0.81[ASN][1000 genomes]
rs4656481	0.90[EUR][1000 genomes]
rs4656484	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656485	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657530	0.91[EUR][1000 genomes]
rs61835144	0.82[ASN][1000 genomes]
rs61835149	0.81[ASN][1000 genomes]
rs61835150	0.81[ASN][1000 genomes]
rs61835151	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6658248	0.82[ASN][1000 genomes]
rs6658513	0.82[ASN][1000 genomes]
rs6681924	0.91[EUR][1000 genomes]
rs6700193	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs715421	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs724139	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7548172	0.97[EUR][1000 genomes]
rs7552225	0.81[ASN][1000 genomes]
rs9787101	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9787239	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166123800-166134000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:166127200-166134000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:166128400-166134000	Weak transcription	Right Ventricle	heart
4	chr1:166131000-166134000	Weak transcription	Brain Anterior Caudate	brain
5	chr1:166132400-166135200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:166133400-166134000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:166133600-166134000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr1:166133600-166134200	Weak transcription	Gastric	stomach
9	chr1:166133800-166134000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
10	chr1:166133800-166134000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr1:166133800-166134000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr1:166133800-166134000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:166133800-166134000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:166133800-166134000	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:166133800-166134000	Bivalent Enhancer	Fetal Brain Male	brain
16	chr1:166133800-166134000	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:166133800-166134000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
18	chr1:166133800-166134400	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr1:166133800-166135000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:166133800-166136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr1:166133800-166136600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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