Variant report

Variant	rs10246555
Chromosome Location	chr7:71099138-71099139
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

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]
rs10246838	0.98[EUR][1000 genomes]
rs10247797	0.81[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255832	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10265750	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10270941	0.87[EUR][1000 genomes]
rs10277067	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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983547	0.80[EUR][1000 genomes]
rs17143757	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1880636	0.98[EUR][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	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371243	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371247	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371248	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371254	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371256	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371257	0.81[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71096600-71101200	Weak transcription	Psoas Muscle	Psoas
2	chr7:71097200-71099200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr7:71097200-71099200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:71097200-71099200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:71097200-71099200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:71097200-71099200	Enhancers	NHLF	lung
7	chr7:71097200-71099600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:71097400-71099200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:71097400-71099200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:71097400-71099200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:71097400-71099200	Enhancers	NHDF-Ad	bronchial
12	chr7:71097400-71099400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:71097400-71099400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:71097400-71099400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:71097400-71109800	Weak transcription	Aorta	Aorta
16	chr7:71097600-71099400	Enhancers	Fetal Muscle Leg	muscle
17	chr7:71098000-71099200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:71098200-71099200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:71098200-71099200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:71098200-71099200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:71098200-71099200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:71098200-71099200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:71098200-71099200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr7:71098200-71099200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:71098200-71099200	Enhancers	Colon Smooth Muscle	Colon
26	chr7:71098200-71099200	Enhancers	Fetal Intestine Small	intestine
27	chr7:71098200-71099200	ZNF genes & repeats	Placenta	Placenta
28	chr7:71098200-71099200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr7:71098200-71099400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:71098200-71099600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:71098200-71099600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:71098200-71100200	Enhancers	Fetal Intestine Large	intestine
33	chr7:71098600-71099200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:71098600-71099200	Enhancers	Osteobl	bone
35	chr7:71098800-71099200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:71098800-71099200	Flanking Active TSS	HSMM	muscle
37	chr7:71098800-71099400	Enhancers	NHEK	skin
38	chr7:71098800-71101200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:71098800-71101400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:71099000-71099200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:71099000-71099200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:71099000-71099200	Enhancers	Spleen	Spleen
43	chr7:71099000-71099200	Enhancers	HepG2	liver
44	chr7:71099000-71099200	Enhancers	HSMMtube	muscle
45	chr7:71099000-71099200	Enhancers	NH-A	brain
46	chr7:71099000-71099400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:71099000-71099400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:71099000-71100400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:71099000-71101000	Weak transcription	Brain Angular Gyrus	brain
50	chr7:71099000-71101200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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