Variant report

Variant	rs644523
Chromosome Location	chr7:71141657-71141658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12532764	1.00[ASN][1000 genomes]
rs17143889	1.00[ASN][1000 genomes]
rs2302439	1.00[ASN][1000 genomes]
rs41456945	1.00[ASN][1000 genomes]
rs473362	0.83[ASN][1000 genomes]
rs500178	1.00[ASN][1000 genomes]
rs548056	1.00[ASN][1000 genomes]
rs551600	1.00[ASN][1000 genomes]
rs590155	0.83[ASN][1000 genomes]
rs59550000	1.00[ASN][1000 genomes]
rs60511097	1.00[ASN][1000 genomes]
rs619529	1.00[ASN][1000 genomes]
rs627324	1.00[ASN][1000 genomes]
rs631479	1.00[ASN][1000 genomes]
rs641979	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs646628	1.00[ASN][1000 genomes]
rs659872	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7778969	1.00[ASN][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71112800-71142600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:71118400-71147800	Weak transcription	Fetal Brain Male	brain
3	chr7:71119800-71141800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:71120800-71147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:71126400-71147600	Weak transcription	Fetal Lung	lung
6	chr7:71130200-71141800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:71130600-71142600	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:71131000-71147200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:71131200-71142000	Weak transcription	Ovary	ovary
10	chr7:71131600-71147800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:71132200-71142000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:71133400-71144000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:71134800-71147800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:71136400-71142000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:71137400-71142600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:71139600-71142000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:71140800-71162000	Weak transcription	Aorta	Aorta
18	chr7:71141000-71147800	Weak transcription	Right Ventricle	heart
19	chr7:71141400-71144200	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:71141400-71145800	Weak transcription	Fetal Stomach	stomach
21	chr7:71141600-71144800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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