Variant report

Variant	rs6460678
Chromosome Location	chr7:71082869-71082870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10245252	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10281339	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11766196	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11766287	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3857700	0.88[ASN][1000 genomes]
rs3973922	0.92[EUR][1000 genomes]
rs4719155	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55642996	0.89[EUR][1000 genomes]
rs56004422	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56355637	0.90[EUR][1000 genomes]
rs56385882	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58633278	0.89[EUR][1000 genomes]
rs59026100	0.90[EUR][1000 genomes]
rs59591796	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60695418	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67230637	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67565098	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67899549	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6949299	0.83[EUR][1000 genomes]
rs6949744	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6970429	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6979843	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73187168	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73187191	0.86[EUR][1000 genomes]
rs7776521	0.84[EUR][1000 genomes]
rs7783628	0.85[EUR][1000 genomes]
rs9638298	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv516049	chr7:71026463-71280299	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1019799	chr7:71027947-71274161	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv538938	chr7:71027947-71274161	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1016182	chr7:71033825-71285800	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1034811	chr7:71033825-71288961	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024288	chr7:71039619-71285800	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1027835	chr7:71055226-71281334	Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538939	chr7:71055226-71281334	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1026364	chr7:71055226-71287960	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538940	chr7:71055226-71287960	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv948337	chr7:71057204-71277518	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3362721	chr7:71080766-71082989	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
15	esv3419952	chr7:71081166-71083014	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71078400-71084800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:71078400-71085200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:71078600-71083200	Weak transcription	Brain Germinal Matrix	brain
4	chr7:71079400-71085000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:71080200-71083000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:71080200-71083600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:71080200-71086200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:71080200-71090200	Weak transcription	Fetal Brain Female	brain
9	chr7:71080200-71092200	Weak transcription	Ovary	ovary
10	chr7:71080400-71083000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:71080400-71083000	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:71080400-71083200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:71080400-71084800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:71080400-71084800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:71080400-71090600	Weak transcription	NH-A	brain
16	chr7:71080800-71083000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:71080800-71091800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:71081000-71084600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:71081000-71088600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:71081200-71084800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:71081400-71083000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:71081400-71097200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:71082600-71083000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:71082800-71083000	Enhancers	Fetal Muscle Leg	muscle
25	chr7:71082800-71083200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:71082800-71083400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:71082800-71083400	Enhancers	Fetal Brain Male	brain
28	chr7:71082800-71084200	Enhancers	HSMM	muscle
29	chr7:71082800-71084400	Enhancers	HSMMtube	muscle

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