Variant report

Variant	rs849903
Chromosome Location	chr1:228137659-228137660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:
2	chr1:228136513..228138396-chr1:228142970..228145012,2	K562	blood:

Variant related genes	Relation type
ENSG00000081692	Chromatin interaction
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10916245	0.90[EUR][1000 genomes]
rs1636192	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1774755	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2313118	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2527614	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2527615	0.95[EUR][1000 genomes]
rs2527616	0.95[EUR][1000 genomes]
rs2796056	0.95[EUR][1000 genomes]
rs3094915	0.88[EUR][1000 genomes]
rs4653889	0.90[EUR][1000 genomes]
rs590657	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs591582	0.95[EUR][1000 genomes]
rs592736	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs594916	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs596208	0.95[EUR][1000 genomes]
rs596675	0.95[EUR][1000 genomes]
rs605410	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs621631	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs621963	0.93[EUR][1000 genomes]
rs632832	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs634106	0.94[EUR][1000 genomes]
rs635563	0.94[EUR][1000 genomes]
rs644794	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs658238	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs672907	0.95[EUR][1000 genomes]
rs672977	0.95[EUR][1000 genomes]
rs673726	0.95[EUR][1000 genomes]
rs686533	0.94[EUR][1000 genomes]
rs849904	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
9	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs849903	OBSCN	cis	Esophagus Mucosa	GTEx
rs849903	C1orf145	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228136600-228137800	Enhancers	Fetal Brain Male	brain
2	chr1:228136800-228138000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr1:228136800-228138000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:228136800-228139600	Weak transcription	Esophagus	oesophagus
5	chr1:228136800-228141000	Weak transcription	Ovary	ovary
6	chr1:228136800-228141000	Weak transcription	NHDF-Ad	bronchial
7	chr1:228137000-228137800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:228137000-228141000	Weak transcription	HSMMtube	muscle
9	chr1:228137200-228138000	Enhancers	Fetal Lung	lung
10	chr1:228137200-228138200	Bivalent Enhancer	Fetal Stomach	stomach
11	chr1:228137200-228139000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:228137200-228140600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:228137200-228141000	Weak transcription	HSMM	muscle
14	chr1:228137600-228137800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:228137600-228137800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:228137600-228138200	Enhancers	Spleen	Spleen
17	chr1:228137600-228138400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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