Variant report

Variant	rs10270941
Chromosome Location	chr7:71080618-71080619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10227562	0.85[EUR][1000 genomes]
rs10237977	0.81[AFR][1000 genomes]
rs10240023	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10243758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10246555	0.87[EUR][1000 genomes]
rs10246838	0.85[EUR][1000 genomes]
rs10247797	0.87[EUR][1000 genomes]
rs10248083	0.84[EUR][1000 genomes]
rs10254307	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10255382	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10255832	0.85[EUR][1000 genomes]
rs10265750	0.87[EUR][1000 genomes]
rs10277067	0.85[EUR][1000 genomes]
rs11971870	0.87[EUR][1000 genomes]
rs11972325	0.87[EUR][1000 genomes]
rs11972420	0.85[EUR][1000 genomes]
rs11979523	0.87[EUR][1000 genomes]
rs11983547	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17143730	0.81[AFR][1000 genomes]
rs17143757	0.87[EUR][1000 genomes]
rs1880636	0.85[EUR][1000 genomes]
rs28379843	0.81[AFR][1000 genomes]
rs28666715	0.81[AFR][1000 genomes]
rs28758566	0.87[EUR][1000 genomes]
rs36185213	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4719160	0.83[EUR][1000 genomes]
rs57799997	0.85[EUR][1000 genomes]
rs6944213	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6951947	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6970080	1.00[AFR][1000 genomes]
rs6977420	0.85[EUR][1000 genomes]
rs73371243	0.85[EUR][1000 genomes]
rs73371247	0.87[EUR][1000 genomes]
rs73371248	0.87[EUR][1000 genomes]
rs73371254	0.85[EUR][1000 genomes]
rs73371256	0.85[EUR][1000 genomes]
rs73371257	0.87[EUR][1000 genomes]
rs73371264	0.87[EUR][1000 genomes]
rs73371269	0.87[EUR][1000 genomes]
rs73371270	0.87[EUR][1000 genomes]
rs73371280	0.83[EUR][1000 genomes]
rs7795733	0.84[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71075400-71080800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:71076200-71080800	Enhancers	Brain Cingulate Gyrus	brain
3	chr7:71076200-71081400	Enhancers	Fetal Muscle Leg	muscle
4	chr7:71077000-71081000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:71077200-71081200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:71077200-71081400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:71077200-71081400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:71077400-71080800	Enhancers	Fetal Heart	heart
9	chr7:71077400-71081400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:71077800-71081000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:71078000-71080800	Enhancers	Fetal Lung	lung
12	chr7:71078400-71084800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:71078400-71085200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:71078600-71081000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:71078600-71081000	Enhancers	Fetal Brain Male	brain
16	chr7:71078600-71083200	Weak transcription	Brain Germinal Matrix	brain
17	chr7:71079400-71080800	Enhancers	Brain Hippocampus Middle	brain
18	chr7:71079400-71080800	Enhancers	Fetal Muscle Trunk	muscle
19	chr7:71079400-71081000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:71079400-71081000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:71079400-71081400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:71079400-71085000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:71080000-71081000	Enhancers	Aorta	Aorta
24	chr7:71080000-71081400	Enhancers	Left Ventricle	heart
25	chr7:71080200-71081000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:71080200-71083000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:71080200-71083600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:71080200-71086200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:71080200-71090200	Weak transcription	Fetal Brain Female	brain
30	chr7:71080200-71092200	Weak transcription	Ovary	ovary
31	chr7:71080400-71082600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:71080400-71082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:71080400-71082800	Weak transcription	HSMM	muscle
34	chr7:71080400-71082800	Weak transcription	HSMMtube	muscle
35	chr7:71080400-71083000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:71080400-71083000	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:71080400-71083200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:71080400-71084800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:71080400-71084800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:71080400-71090600	Weak transcription	NH-A	brain
41	chr7:71080600-71081000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:71080600-71081000	Enhancers	Psoas Muscle	Psoas

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