Variant report

Variant	rs4717607
Chromosome Location	chr7:71077787-71077788
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10257839	1.00[EUR][1000 genomes]
rs10275749	1.00[EUR][1000 genomes]
rs11975246	0.83[AMR][1000 genomes]
rs11975959	1.00[EUR][1000 genomes]
rs1464900	1.00[EUR][1000 genomes]
rs1464901	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1464902	0.83[AMR][1000 genomes]
rs1525719	0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869514	0.83[AMR][1000 genomes]
rs17143664	0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs17143672	0.83[AMR][1000 genomes]
rs17143763	1.00[EUR][1000 genomes]
rs1917740	0.83[AMR][1000 genomes]
rs4145368	0.83[AMR][1000 genomes]
rs4719154	0.83[AMR][1000 genomes]
rs56006064	0.83[AMR][1000 genomes]
rs56735040	1.00[EUR][1000 genomes]
rs59375930	0.83[AMR][1000 genomes]
rs59399850	1.00[EUR][1000 genomes]
rs60120787	1.00[EUR][1000 genomes]
rs60625937	0.83[AMR][1000 genomes]
rs6947665	1.00[EUR][1000 genomes]
rs6964202	1.00[EUR][1000 genomes]
rs6971016	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702222	0.83[AMR][1000 genomes]
rs73702224	0.83[AMR][1000 genomes]
rs73702229	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7781829	0.83[AMR][1000 genomes]
rs7789555	1.00[EUR][1000 genomes]
rs7790588	0.83[AMR][1000 genomes]
rs7801821	0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71024800-71079400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:71075200-71080200	Enhancers	Ovary	ovary
3	chr7:71075400-71080800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:71075800-71077800	Weak transcription	Adipose Nuclei	Adipose
5	chr7:71075800-71078600	Enhancers	Aorta	Aorta
6	chr7:71076000-71078000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:71076000-71079400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:71076200-71080800	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:71076200-71081400	Enhancers	Fetal Muscle Leg	muscle
10	chr7:71076600-71077800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:71076600-71077800	Enhancers	Brain Anterior Caudate	brain
12	chr7:71076600-71078000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:71076600-71079000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:71076600-71079000	Enhancers	HSMMtube	muscle
15	chr7:71076600-71080200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:71076800-71077800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:71076800-71077800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:71076800-71078200	Enhancers	Fetal Brain Male	brain
19	chr7:71076800-71078400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:71076800-71078600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:71076800-71078600	Enhancers	Brain Substantia Nigra	brain
22	chr7:71076800-71080400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:71077000-71078800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:71077000-71078800	Enhancers	NH-A	brain
25	chr7:71077000-71081000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:71077200-71078400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:71077200-71078800	Enhancers	Stomach Smooth Muscle	stomach
28	chr7:71077200-71081200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:71077200-71081400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr7:71077200-71081400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:71077400-71077800	Weak transcription	HSMM	muscle
32	chr7:71077400-71078000	Enhancers	Fetal Muscle Trunk	muscle
33	chr7:71077400-71078200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:71077400-71078400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:71077400-71078400	Weak transcription	Brain Angular Gyrus	brain
36	chr7:71077400-71078400	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr7:71077400-71078600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:71077400-71079600	Enhancers	Rectal Smooth Muscle	rectum
39	chr7:71077400-71080800	Enhancers	Fetal Heart	heart
40	chr7:71077400-71081400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:71077600-71077800	Enhancers	Fetal Lung	lung
42	chr7:71077600-71078200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr7:71077600-71078200	Flanking Active TSS	Fetal Brain Female	brain
44	chr7:71077600-71078600	Enhancers	NHDF-Ad	bronchial
45	chr7:71077600-71078800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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