Variant report

Variant	rs2122159
Chromosome Location	chr5:107565820-107565821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10515386	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12163950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12652018	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12654121	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12654703	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12656256	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656744	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656817	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12657054	1.00[EUR][1000 genomes]
rs12658221	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12659121	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12659135	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1422148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17160916	0.87[EUR][1000 genomes]
rs17161236	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161254	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161284	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161304	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161316	1.00[EUR][1000 genomes]
rs1965392	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2063422	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2910790	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2966787	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2966791	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2966801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36062636	0.87[EUR][1000 genomes]
rs4423983	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4463170	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4593253	1.00[EUR][1000 genomes]
rs4957754	1.00[EUR][1000 genomes]
rs60493671	0.89[EUR][1000 genomes]
rs72503488	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73781360	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv882685	chr5:107564746-107695558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 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	chr5:107517000-107571800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr5:107546600-107590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:107547000-107577200	Weak transcription	Fetal Intestine Large	intestine
5	chr5:107549200-107578000	Weak transcription	Pancreas	Pancrea
6	chr5:107551200-107569000	Weak transcription	Primary T cells from cord blood	blood
7	chr5:107551800-107567200	Weak transcription	Primary B cells from cord blood	blood
8	chr5:107551800-107568800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:107551800-107569600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:107552000-107578800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:107552000-107585000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:107553000-107575400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:107553000-107584800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:107553400-107590800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:107554600-107574200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:107556200-107566000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:107556400-107580200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:107557200-107568800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:107558000-107581000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:107559800-107568800	Weak transcription	NHDF-Ad	bronchial
21	chr5:107560200-107568600	Weak transcription	Fetal Heart	heart
22	chr5:107561400-107595000	Weak transcription	Psoas Muscle	Psoas
23	chr5:107561800-107575200	Weak transcription	Right Ventricle	heart
24	chr5:107561800-107576000	Weak transcription	Fetal Intestine Small	intestine
25	chr5:107563800-107569000	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:107564200-107567400	Weak transcription	Left Ventricle	heart
27	chr5:107564200-107580400	Weak transcription	Ovary	ovary

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