Variant report

Variant	rs4653715
Chromosome Location	chr1:226304277-226304278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226295177..226301855-chr1:226303668..226313005,25	K562	blood:
2	chr1:226302575..226305017-chr1:226495164..226496806,2	K562	blood:
3	chr1:226245827..226258736-chr1:226304107..226314743,27	K562	blood:
4	chr1:226303513..226307082-chr1:226307356..226312783,6	K562	blood:
5	chr1:226295676..226301816-chr1:226302378..226313716,36	MCF-7	breast:
6	chr1:226245827..226262488-chr1:226303989..226311845,34	K562	blood:

Variant related genes	Relation type
ENSG00000183814	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10915933	0.82[ASN][1000 genomes]
rs10915938	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915939	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915940	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12123950	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12130296	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12131977	0.89[ASN][1000 genomes]
rs12136759	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12145818	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1877153	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1877155	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1877156	0.86[EUR][1000 genomes]
rs1877161	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35152719	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3887559	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4592232	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs67947191	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72757092	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9645314	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226299000-226308800	Weak transcription	A549	lung
2	chr1:226299600-226308400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:226299600-226308800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:226299800-226306800	Weak transcription	Spleen	Spleen
5	chr1:226299800-226308800	Weak transcription	Gastric	stomach
6	chr1:226299800-226309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:226300000-226308200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:226300000-226308200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:226300400-226306000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:226300800-226305600	Weak transcription	HSMMtube	muscle
11	chr1:226301000-226306000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:226301000-226306600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:226301400-226306200	Weak transcription	Primary B cells from cord blood	blood
14	chr1:226301800-226306000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:226303800-226304600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:226303800-226305000	Enhancers	K562	blood
17	chr1:226304000-226304600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:226304000-226306400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:226304000-226307400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:226304000-226308000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:226304000-226308000	Weak transcription	Fetal Thymus	thymus
22	chr1:226304000-226308800	Weak transcription	HMEC	breast
23	chr1:226304000-226308800	Weak transcription	NHEK	skin
24	chr1:226304200-226304600	Enhancers	HepG2	liver
25	chr1:226304200-226305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:226304200-226308800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:226304200-226308800	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links