Variant report

Variant	rs73371248
Chromosome Location	chr7:71093192-71093193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71087444..71089521-chr7:71091898..71094227,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10227562	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10240023	0.80[EUR][1000 genomes]
rs10243758	0.87[EUR][1000 genomes]
rs10246555	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10246838	0.98[EUR][1000 genomes]
rs10247797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10248083	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10254307	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255382	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255832	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10265750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10270941	0.87[EUR][1000 genomes]
rs10277067	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11971870	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11972325	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11972420	0.98[EUR][1000 genomes]
rs11979523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983547	0.80[EUR][1000 genomes]
rs17143730	0.95[AFR][1000 genomes]
rs17143757	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1880636	0.98[EUR][1000 genomes]
rs28379843	0.95[AFR][1000 genomes]
rs28666715	0.95[AFR][1000 genomes]
rs28758566	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36185213	0.80[EUR][1000 genomes]
rs4719160	0.96[EUR][1000 genomes]
rs57799997	0.98[EUR][1000 genomes]
rs6944213	0.80[EUR][1000 genomes]
rs6951947	0.80[EUR][1000 genomes]
rs6977420	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371243	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371254	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371256	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371264	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371269	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371270	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371280	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7795733	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71081400-71097200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:71086400-71095000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:71086400-71097200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:71086400-71097400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:71086400-71098200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:71086600-71098200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:71088800-71098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:71091600-71098200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:71091800-71097200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:71091800-71097400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:71092000-71097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:71092000-71097400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:71092000-71097400	Weak transcription	Fetal Brain Female	brain
14	chr7:71092000-71097400	Weak transcription	HSMM	muscle
15	chr7:71092600-71097200	Weak transcription	NH-A	brain
16	chr7:71092600-71098200	Weak transcription	Ovary	ovary
17	chr7:71092800-71097200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:71093000-71093200	Active TSS	Colon Smooth Muscle	Colon
19	chr7:71093000-71093200	Flanking Active TSS	Fetal Heart	heart
20	chr7:71093000-71093800	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:71093000-71094000	Weak transcription	Left Ventricle	heart
22	chr7:71093000-71095200	Weak transcription	HSMMtube	muscle
23	chr7:71093000-71095400	Weak transcription	Aorta	Aorta
24	chr7:71093000-71098200	Weak transcription	Right Ventricle	heart

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