Variant report

Variant	rs2347136
Chromosome Location	chr4:110841026-110841027
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110838362..110841252-chr4:110845200..110847898,2	K562	blood:
2	chr4:110838362..110842367-chr4:110842541..110847898,5	K562	blood:
3	chr4:110832543..110837844-chr4:110838197..110841134,5	K562	blood:

Variant related genes	Relation type
ENSG00000138798	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10002971	0.85[EUR][1000 genomes]
rs10011112	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10014383	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10017261	0.90[EUR][1000 genomes]
rs10023272	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10029105	0.96[EUR][1000 genomes]
rs10029654	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10213531	0.95[EUR][1000 genomes]
rs1024600	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10470911	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs10488881	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs11098056	0.92[EUR][1000 genomes]
rs11568903	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11568905	0.81[EUR][1000 genomes]
rs11568950	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11568972	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11568994	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs17238095	0.96[ASN][1000 genomes]
rs17253063	0.85[EUR][1000 genomes]
rs17316633	0.96[ASN][1000 genomes]
rs2024114	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2067004	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2190909	0.94[EUR][1000 genomes]
rs2237041	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237045	0.95[EUR][1000 genomes]
rs2250616	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2282785	0.96[EUR][1000 genomes]
rs2298977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28437404	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28535066	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28540029	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28564978	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28629923	0.95[EUR][1000 genomes]
rs28672708	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28734982	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3764861	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs3775967	0.97[EUR][1000 genomes]
rs3796945	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3796946	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs3822288	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4279279	0.94[EUR][1000 genomes]
rs4698755	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4698756	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs4698800	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4698801	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs62327602	0.96[ASN][1000 genomes]
rs62327604	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533481	0.96[EUR][1000 genomes]
rs6837717	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7655579	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7668520	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7680062	0.81[EUR][1000 genomes]
rs881878	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9307347	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9992755	1.00[CEU][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv1806286	chr4:110837287-110845707	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1811274	chr4:110837287-110845707	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1814770	chr4:110837287-110845707	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1810403	chr4:110840522-110845807	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1811374	chr4:110840522-110845807	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3467314	chr4:110840629-110845839	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1804200	chr4:110840722-110845607	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1804491	chr4:110840722-110845607	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1805263	chr4:110840722-110848490	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3467315	chr4:110840725-110845741	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3467316	chr4:110840739-110845739	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv290769	chr4:110840741-110845738	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv595143	chr4:110840748-110842876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1804393	chr4:110840748-110845707	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1806215	chr4:110840748-110845707	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1807950	chr4:110840748-110845707	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1808099	chr4:110840748-110845707	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1810771	chr4:110840748-110845707	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1811954	chr4:110840748-110845707	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1812266	chr4:110840748-110845707	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1815111	chr4:110840748-110845707	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv1815159	chr4:110840748-110845707	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1804723	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv1804837	chr4:110840748-110846796	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv1808922	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv1813652	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv1813951	chr4:110840748-110862637	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv9973	chr4:110840754-110845757	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110834400-110844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:110834600-110841800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:110835200-110842200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:110836200-110841600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:110836600-110842000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:110836800-110842400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:110836800-110842600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:110836800-110849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:110837000-110842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:110837200-110842000	Weak transcription	HSMMtube	muscle
11	chr4:110837400-110842000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:110837600-110842600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:110837800-110841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:110837800-110842200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:110837800-110846000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:110838000-110842400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:110838400-110841400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:110840000-110842000	Weak transcription	Pancreas	Pancrea
19	chr4:110840600-110849200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:110840800-110844000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:110841000-110842000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:110841000-110842800	Weak transcription	Psoas Muscle	Psoas

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