Variant report

Variant	rs4656467
Chromosome Location	chr1:165871705-165871706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:165871650-165872011	K562	blood:	n/a	n/a
2	POLR2A	chr1:165871074-165872438	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165864751..165867551-chr1:165869428..165872327,2	MCF-7	breast:
2	chr1:165865590..165867846-chr1:165871493..165873264,2	MCF-7	breast:

Variant related genes	Relation type
UCK2	TF binding region
ENSG00000236364	TF binding region
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12060526	0.89[JPT][hapmap]
rs12118019	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119028	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569109	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1663841	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1768900	0.91[EUR][1000 genomes]
rs3790654	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3790668	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790669	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs3790670	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790674	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs4656464	0.85[ASN][1000 genomes]
rs4656465	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs474766	0.98[EUR][1000 genomes]
rs475558	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504436	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514163	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs530717	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs533929	0.98[EUR][1000 genomes]
rs537068	0.98[EUR][1000 genomes]
rs561315	0.98[EUR][1000 genomes]
rs576213	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426943	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6661905	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6666086	0.81[JPT][hapmap]
rs6682285	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6687465	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7520107	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7547020	0.85[ASN][1000 genomes]
rs9787031	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165854600-165883000	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:165856600-165878800	Weak transcription	Small Intestine	intestine
3	chr1:165858200-165881200	Strong transcription	Dnd41	blood
4	chr1:165858400-165881000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:165858600-165872000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:165858600-165872600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:165858600-165902400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:165859000-165881000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:165859200-165878000	Strong transcription	Hela-S3	cervix
10	chr1:165859200-165880400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:165859200-165881000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:165859400-165880200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:165859400-165880400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr1:165859400-165880600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:165859400-165880600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:165859600-165880600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:165860000-165880200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr1:165862000-165871800	Weak transcription	Brain Substantia Nigra	brain
19	chr1:165862400-165871800	Weak transcription	Brain Anterior Caudate	brain
20	chr1:165864600-165872000	Weak transcription	Primary B cells from cord blood	blood
21	chr1:165865000-165872600	Weak transcription	Adipose Nuclei	Adipose
22	chr1:165866000-165871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:165866400-165875000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:165866600-165871800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:165866800-165872000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:165866800-165872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:165866800-165872200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:165867000-165871800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:165867000-165872800	Enhancers	HUVEC	blood vessel
30	chr1:165867200-165876800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:165867400-165872400	Weak transcription	Colonic Mucosa	Colon
32	chr1:165867800-165876600	Weak transcription	Psoas Muscle	Psoas
33	chr1:165868200-165871800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:165868400-165872000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:165868400-165880200	Strong transcription	A549	lung
36	chr1:165869000-165875200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:165869200-165872200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:165869200-165875000	Weak transcription	GM12878-XiMat	blood
39	chr1:165869200-165875200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:165869200-165875400	Weak transcription	Brain Germinal Matrix	brain
41	chr1:165869400-165872400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:165869600-165872000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:165869800-165874600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:165870000-165872000	Weak transcription	Left Ventricle	heart
45	chr1:165870000-165872000	Weak transcription	K562	blood
46	chr1:165870000-165872200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:165870000-165872600	Weak transcription	Right Ventricle	heart
48	chr1:165870000-165872800	Weak transcription	Right Atrium	heart
49	chr1:165870000-165873600	Weak transcription	Liver	Liver
50	chr1:165870000-165875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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