Variant report

Variant	rs34192465
Chromosome Location	chr1:212229809-212229810
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:212228583-212229952	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:212228973-212229848	K562	blood:	n/a	n/a
3	SETDB1	chr1:212228409-212231670	K562	blood:	n/a	n/a
4	POLR2A	chr1:212228108-212230032	K562	blood:	n/a	n/a
5	CBX3	chr1:212229475-212230429	K562	blood:	n/a	n/a
6	POLR2A	chr1:212228212-212233601	K562	blood:	n/a	n/a
7	POLR2A	chr1:212228142-212230048	K562	blood:	n/a	n/a
8	POLR2A	chr1:212229787-212229854	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212227506..212231237-chr1:212233553..212238482,7	K562	blood:
2	chr1:212223004..212226012-chr1:212226300..212230375,4	K562	blood:
3	chr1:212208792..212210406-chr1:212229258..212230902,2	K562	blood:
4	chr1:212225925..212230498-chr1:212230640..212238482,9	K562	blood:

No data

Variant related genes	Relation type
RPL21P28	TF binding region
ENSG00000143493	Chromatin interaction
ENSG00000220749	Chromatin interaction
ENSG00000143476	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11119825	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11119826	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11119827	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11119844	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120122	0.89[ASN][1000 genomes]
rs12120150	0.89[ASN][1000 genomes]
rs12122247	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12122488	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12124877	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12125159	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12126761	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12127488	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12130548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131060	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12131750	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12132233	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12132812	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12144471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12145020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146085	0.86[ASN][1000 genomes]
rs12567425	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723988	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12744135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747761	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12749452	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12750872	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12755278	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759730	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17018334	0.81[ASN][1000 genomes]
rs17018421	0.97[ASN][1000 genomes]
rs17018532	0.94[ASN][1000 genomes]
rs1965955	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2200944	0.97[ASN][1000 genomes]
rs34841259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35325760	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3762453	0.91[ASN][1000 genomes]
rs3795836	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71646137	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72748568	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72750369	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212209600-212253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:212210800-212241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:212214400-212278000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:212215600-212233000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:212216200-212233200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:212217000-212232800	Strong transcription	Dnd41	blood
7	chr1:212218000-212231000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:212218000-212231800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:212225400-212230000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:212225800-212230000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:212226200-212233000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:212226200-212233000	ZNF genes & repeats	K562	blood
13	chr1:212226400-212230000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:212226600-212230400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:212226600-212237600	Weak transcription	NHDF-Ad	bronchial
16	chr1:212227000-212230000	Strong transcription	HMEC	breast
17	chr1:212227000-212230600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:212227200-212230000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:212227200-212230000	Strong transcription	NHEK	skin
20	chr1:212227200-212230800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:212227200-212231200	Strong transcription	HepG2	liver
22	chr1:212227400-212230000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:212227600-212230000	Strong transcription	Osteobl	bone
24	chr1:212227600-212230600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:212228200-212231200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr1:212228200-212231400	ZNF genes & repeats	GM12878-XiMat	blood
27	chr1:212228400-212230000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr1:212228400-212230200	ZNF genes & repeats	A549	lung
29	chr1:212228600-212230400	Strong transcription	HUVEC	blood vessel
30	chr1:212228600-212231600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr1:212228600-212231800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:212228600-212237800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:212228800-212230600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:212228800-212231400	Strong transcription	HSMM	muscle
35	chr1:212229000-212230000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr1:212229000-212230600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:212229000-212231400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr1:212229200-212230000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr1:212229200-212230000	Strong transcription	Fetal Kidney	kidney
40	chr1:212229200-212231400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:212229200-212237800	Weak transcription	NH-A	brain
42	chr1:212229400-212230000	Weak transcription	Spleen	Spleen
43	chr1:212229400-212230200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:212229400-212230400	Weak transcription	Esophagus	oesophagus
45	chr1:212229400-212231600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr1:212229400-212231600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:212229600-212230000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr1:212229600-212230600	Strong transcription	Hela-S3	cervix
49	chr1:212229600-212255400	Weak transcription	NHLF	lung
50	chr1:212229600-212266600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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