Variant report

Variant	rs10246838
Chromosome Location	chr7:71099392-71099393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10227562	0.96[EUR][1000 genomes]
rs10235822	0.86[ASN][1000 genomes]
rs10243758	0.85[EUR][1000 genomes]
rs10246555	0.98[EUR][1000 genomes]
rs10247797	0.98[EUR][1000 genomes]
rs10248083	0.94[EUR][1000 genomes]
rs10254307	0.98[EUR][1000 genomes]
rs10255382	0.98[EUR][1000 genomes]
rs10255832	0.96[EUR][1000 genomes]
rs10265750	0.98[EUR][1000 genomes]
rs10270941	0.85[EUR][1000 genomes]
rs10273024	0.86[ASN][1000 genomes]
rs10277067	0.96[EUR][1000 genomes]
rs10280626	1.00[ASN][1000 genomes]
rs11971870	0.98[EUR][1000 genomes]
rs11972325	0.98[EUR][1000 genomes]
rs11972408	0.86[ASN][1000 genomes]
rs11972420	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975523	0.86[ASN][1000 genomes]
rs11975959	1.00[ASN][1000 genomes]
rs11979523	0.98[EUR][1000 genomes]
rs11982829	0.86[ASN][1000 genomes]
rs11983226	0.86[ASN][1000 genomes]
rs11983547	0.86[ASN][1000 genomes]
rs1404955	1.00[ASN][1000 genomes]
rs1467333	1.00[ASN][1000 genomes]
rs17143750	0.86[ASN][1000 genomes]
rs17143757	0.98[EUR][1000 genomes]
rs17143763	1.00[ASN][1000 genomes]
rs17143779	0.86[ASN][1000 genomes]
rs1880636	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917737	0.86[ASN][1000 genomes]
rs2867477	1.00[ASN][1000 genomes]
rs28758566	0.98[EUR][1000 genomes]
rs36185213	0.86[ASN][1000 genomes]
rs4263633	1.00[ASN][1000 genomes]
rs4484575	1.00[ASN][1000 genomes]
rs4719157	0.86[ASN][1000 genomes]
rs4719160	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57799997	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60120787	1.00[ASN][1000 genomes]
rs60298147	1.00[ASN][1000 genomes]
rs6947665	1.00[ASN][1000 genomes]
rs6961952	1.00[ASN][1000 genomes]
rs6977420	0.96[EUR][1000 genomes]
rs73371243	0.96[EUR][1000 genomes]
rs73371247	0.98[EUR][1000 genomes]
rs73371248	0.98[EUR][1000 genomes]
rs73371254	0.96[EUR][1000 genomes]
rs73371256	0.96[EUR][1000 genomes]
rs73371257	0.98[EUR][1000 genomes]
rs73371264	0.98[EUR][1000 genomes]
rs73371269	0.98[EUR][1000 genomes]
rs73371270	0.98[EUR][1000 genomes]
rs73371280	0.94[EUR][1000 genomes]
rs7789424	0.86[ASN][1000 genomes]
rs7789555	1.00[ASN][1000 genomes]
rs7790588	0.86[ASN][1000 genomes]
rs7795733	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805142	0.86[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71096600-71101200	Weak transcription	Psoas Muscle	Psoas
2	chr7:71097200-71099600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:71097400-71099400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr7:71097400-71099400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:71097400-71099400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:71097400-71109800	Weak transcription	Aorta	Aorta
7	chr7:71097600-71099400	Enhancers	Fetal Muscle Leg	muscle
8	chr7:71098200-71099400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:71098200-71099600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:71098200-71099600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:71098200-71100200	Enhancers	Fetal Intestine Large	intestine
12	chr7:71098800-71099400	Enhancers	NHEK	skin
13	chr7:71098800-71101200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:71098800-71101400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:71099000-71099400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:71099000-71099400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:71099000-71100400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:71099000-71101000	Weak transcription	Brain Angular Gyrus	brain
19	chr7:71099000-71101200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:71099000-71101200	Weak transcription	Fetal Heart	heart
21	chr7:71099000-71101200	Weak transcription	Left Ventricle	heart
22	chr7:71099000-71101200	Weak transcription	Right Ventricle	heart
23	chr7:71099000-71101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:71099000-71102400	Weak transcription	Fetal Brain Male	brain
25	chr7:71099000-71102400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:71099000-71102600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:71099000-71102600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:71099000-71104200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:71099000-71104200	Weak transcription	Fetal Brain Female	brain
30	chr7:71099000-71114000	Weak transcription	Ovary	ovary
31	chr7:71099200-71099400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:71099200-71100200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:71099200-71100400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:71099200-71100400	Weak transcription	HepG2	liver
35	chr7:71099200-71100600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:71099200-71101000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:71099200-71101200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr7:71099200-71101200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:71099200-71101200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:71099200-71101200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:71099200-71101200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:71099200-71101200	Weak transcription	HSMMtube	muscle
43	chr7:71099200-71101200	Weak transcription	NH-A	brain
44	chr7:71099200-71101200	Weak transcription	NHLF	lung
45	chr7:71099200-71101400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:71099200-71101600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:71099200-71102400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:71099200-71102400	Weak transcription	HSMM	muscle
49	chr7:71099200-71102600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:71099200-71102600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links