Variant report

Variant	rs2966811
Chromosome Location	chr5:107549976-107549977
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10057274	0.80[EUR][1000 genomes]
rs10057905	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10070565	0.81[EUR][1000 genomes]
rs10075907	0.86[AFR][1000 genomes]
rs13174270	0.80[EUR][1000 genomes]
rs1839224	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2029104	0.86[AFR][1000 genomes]
rs2044709	0.85[AFR][1000 genomes]
rs2044710	0.86[AFR][1000 genomes]
rs2044711	0.86[EUR][1000 genomes]
rs2122157	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2122158	0.86[AFR][1000 genomes]
rs286762	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs286765	0.83[EUR][1000 genomes]
rs286766	0.83[EUR][1000 genomes]
rs2922409	0.85[EUR][1000 genomes]
rs2922410	0.85[EUR][1000 genomes]
rs2922411	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2922413	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2922414	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2922415	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2922416	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2922419	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2922423	0.82[AFR][1000 genomes]
rs2922424	0.88[AFR][1000 genomes]
rs2922427	0.85[AFR][1000 genomes]
rs2922428	0.86[AFR][1000 genomes]
rs2922434	0.85[EUR][1000 genomes]
rs2966794	0.85[EUR][1000 genomes]
rs2966795	0.86[AFR][1000 genomes]
rs2966797	0.84[AFR][1000 genomes]
rs2966799	0.80[AFR][1000 genomes]
rs2966805	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2966806	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2966807	0.92[AFR][1000 genomes]
rs2966808	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2966809	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2966810	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2966812	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2966815	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2966817	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2966819	0.86[EUR][1000 genomes]
rs34088844	0.84[EUR][1000 genomes]
rs35053804	0.81[EUR][1000 genomes]
rs399438	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4276393	0.85[EUR][1000 genomes]
rs4385196	0.84[EUR][1000 genomes]
rs4957750	0.84[EUR][1000 genomes]
rs66855775	0.84[EUR][1000 genomes]
rs715638	0.81[EUR][1000 genomes]
rs962680	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830441	chr5:107450392-107614557	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv882684	chr5:107521677-107695558	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830442	chr5:107539150-107697020	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107516200-107584800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:107516800-107551400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:107517000-107571800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:107526000-107550800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:107537000-107550600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:107539400-107551000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:107544200-107550600	Weak transcription	Liver	Liver
8	chr5:107546200-107553200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:107546600-107590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:107547000-107552400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:107547000-107577200	Weak transcription	Fetal Intestine Large	intestine
12	chr5:107547400-107550000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:107548000-107550600	Weak transcription	Primary T cells from cord blood	blood
14	chr5:107548600-107550600	Weak transcription	Primary B cells from cord blood	blood
15	chr5:107548800-107556000	Weak transcription	Left Ventricle	heart
16	chr5:107549000-107552400	Weak transcription	Fetal Heart	heart
17	chr5:107549000-107552400	Weak transcription	NH-A	brain
18	chr5:107549200-107550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:107549200-107551600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:107549200-107578000	Weak transcription	Pancreas	Pancrea
21	chr5:107549400-107550400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:107549400-107552400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:107549400-107552600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:107549400-107552600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:107549400-107557600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:107549400-107561200	Weak transcription	Fetal Intestine Small	intestine

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