Variant report

Variant	rs8004383
Chromosome Location	chr14:41873129-41873130
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10129425	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10149322	0.84[EUR][1000 genomes]
rs10483528	0.96[EUR][1000 genomes]
rs11844708	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12433374	0.94[EUR][1000 genomes]
rs12434244	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12435907	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1431034	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1431040	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1549812	0.96[EUR][1000 genomes]
rs17781198	0.96[EUR][1000 genomes]
rs1821019	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1821021	0.96[EUR][1000 genomes]
rs1890166	0.96[EUR][1000 genomes]
rs2065967	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34072755	0.96[EUR][1000 genomes]
rs34362739	0.96[EUR][1000 genomes]
rs3844018	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3910107	0.96[EUR][1000 genomes]
rs55742118	0.85[EUR][1000 genomes]
rs59437675	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60975358	0.95[EUR][1000 genomes]
rs61105742	0.96[EUR][1000 genomes]
rs61123613	0.96[EUR][1000 genomes]
rs6572090	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6572091	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6572092	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67266716	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7140446	0.94[EUR][1000 genomes]
rs7143605	0.97[EUR][1000 genomes]
rs7144930	0.94[EUR][1000 genomes]
rs7148811	0.93[EUR][1000 genomes]
rs7149000	0.92[EUR][1000 genomes]
rs7150186	0.88[ASN][1000 genomes]
rs7154329	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7159165	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7160943	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7161082	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8006479	0.96[EUR][1000 genomes]
rs8018577	0.97[EUR][1000 genomes]
rs8022960	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8023137	0.96[EUR][1000 genomes]
rs919580	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9646147	0.96[EUR][1000 genomes]
rs988090	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456224	chr14:41432350-42059281	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv564471	chr14:41432350-42059281	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1831164	chr14:41673017-42103168	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1044831	chr14:41743218-41997018	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv542057	chr14:41743218-41997018	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2757563	chr14:41766561-41880727	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2759982	chr14:41766561-41880727	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv901735	chr14:41767006-41938321	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1050985	chr14:41770445-42004827	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv456225	chr14:41813252-41941986	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv564559	chr14:41813252-41941986	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1043813	chr14:41845956-42005195	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv1044555	chr14:41847254-41960414	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1052015	chr14:41866577-41946655	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv456226	chr14:41870230-41908584	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv564560	chr14:41870230-41908584	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv901737	chr14:41871875-41928909	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41870600-41895400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:41871000-41888400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:41871800-41873400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:41872600-41873200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:41872800-41873200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr14:41872800-41873200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
7	chr14:41872800-41873400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr14:41872800-41873400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr14:41872800-41873600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:41872800-41873600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:41872800-41873600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:41872800-41873800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr14:41873000-41873200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:41873000-41873200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr14:41873000-41873600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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