Variant report

Variant	rs4145368
Chromosome Location	chr7:71097273-71097274
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11975246	1.00[AMR][1000 genomes]
rs1464901	1.00[AMR][1000 genomes]
rs1464902	1.00[AMR][1000 genomes]
rs1525719	0.83[AMR][1000 genomes]
rs16869514	1.00[AMR][1000 genomes]
rs17143664	1.00[AMR][1000 genomes]
rs17143672	1.00[AMR][1000 genomes]
rs1917740	1.00[AMR][1000 genomes]
rs4717607	0.83[AMR][1000 genomes]
rs4719154	1.00[AMR][1000 genomes]
rs56006064	1.00[AMR][1000 genomes]
rs59375930	1.00[AMR][1000 genomes]
rs59873623	0.83[AMR][1000 genomes]
rs60625937	1.00[AMR][1000 genomes]
rs6959598	0.83[AMR][1000 genomes]
rs6971016	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702212	0.83[AMR][1000 genomes]
rs73702218	0.83[AMR][1000 genomes]
rs73702222	1.00[AMR][1000 genomes]
rs73702224	1.00[AMR][1000 genomes]
rs73702229	1.00[AMR][1000 genomes]
rs7780705	0.83[AMR][1000 genomes]
rs7781829	1.00[AMR][1000 genomes]
rs7790588	1.00[AMR][1000 genomes]
rs7801821	0.83[AMR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71086400-71097400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:71086400-71098200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:71086600-71098200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:71088800-71098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:71091600-71098200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:71091800-71097400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:71092000-71097400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:71092000-71097400	Weak transcription	Fetal Brain Female	brain
9	chr7:71092000-71097400	Weak transcription	HSMM	muscle
10	chr7:71092600-71098200	Weak transcription	Ovary	ovary
11	chr7:71093000-71098200	Weak transcription	Right Ventricle	heart
12	chr7:71094000-71098200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:71095400-71098200	Weak transcription	Left Ventricle	heart
14	chr7:71095600-71098200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:71096000-71098200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:71096000-71098200	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:71096200-71098200	Weak transcription	Fetal Heart	heart
18	chr7:71096200-71098200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:71096600-71097600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:71096600-71101200	Weak transcription	Psoas Muscle	Psoas
21	chr7:71096800-71098400	Weak transcription	Brain Germinal Matrix	brain
22	chr7:71097000-71097600	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:71097200-71097400	Enhancers	Aorta	Aorta
24	chr7:71097200-71097600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:71097200-71098200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:71097200-71098200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:71097200-71098200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:71097200-71098200	Enhancers	Fetal Muscle Trunk	muscle
29	chr7:71097200-71098200	Enhancers	HSMMtube	muscle
30	chr7:71097200-71098200	Enhancers	NH-A	brain
31	chr7:71097200-71098400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:71097200-71099000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:71097200-71099000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:71097200-71099200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:71097200-71099200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:71097200-71099200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:71097200-71099200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:71097200-71099200	Enhancers	NHLF	lung
39	chr7:71097200-71099600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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