Variant report

Variant	rs2786522
Chromosome Location	chr1:98012711-98012712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12060391	1.00[ASN][1000 genomes]
rs12066229	1.00[ASN][1000 genomes]
rs17116920	1.00[ASN][1000 genomes]
rs17116925	1.00[ASN][1000 genomes]
rs2786529	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786533	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811218	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811219	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811220	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811221	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530858	1.00[ASN][1000 genomes]
rs7540983	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv830703	chr1:97907708-98101144	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv933197	chr1:98003867-98039582	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv871708	chr1:98003908-98056575	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv546866	chr1:98003908-98078993	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97872600-98014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:97928600-98018200	Weak transcription	Ovary	ovary
3	chr1:97976600-98014600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:97976600-98054200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:97976800-98051400	Weak transcription	Left Ventricle	heart
6	chr1:97980000-98013400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:97986600-98014600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:97988200-98023000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:97990000-98013000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:97996000-98037400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:97998600-98063800	Weak transcription	Right Ventricle	heart
12	chr1:97999000-98014600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:97999400-98064600	Weak transcription	Psoas Muscle	Psoas
14	chr1:97999400-98074000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:98001200-98062400	Weak transcription	Fetal Lung	lung
16	chr1:98002000-98054600	Weak transcription	Lung	lung
17	chr1:98002000-98069400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:98002800-98058800	Weak transcription	Gastric	stomach
19	chr1:98003800-98022800	Weak transcription	Fetal Intestine Large	intestine
20	chr1:98004000-98014600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:98004400-98022200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:98004400-98058400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:98004800-98022800	Weak transcription	Fetal Intestine Small	intestine
24	chr1:98005000-98014600	Weak transcription	Adipose Nuclei	Adipose
25	chr1:98006000-98016200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:98006200-98014800	Weak transcription	Osteobl	bone
27	chr1:98006400-98040600	Weak transcription	Pancreas	Pancrea
28	chr1:98007800-98058400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:98007800-98075800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:98008000-98021200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:98009800-98076800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:98009800-98112200	Weak transcription	HSMM	muscle
33	chr1:98010000-98014800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:98010000-98021000	Weak transcription	Primary B cells from cord blood	blood
35	chr1:98010400-98016200	Strong transcription	Dnd41	blood
36	chr1:98011000-98012800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:98011000-98015600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:98011400-98013400	Strong transcription	Liver	Liver
39	chr1:98011600-98014600	Weak transcription	HSMMtube	muscle
40	chr1:98011800-98013200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:98011800-98015400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:98012000-98012800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:98012000-98013600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:98012000-98015200	Strong transcription	Primary T cells from cord blood	blood
45	chr1:98012000-98054200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:98012200-98013400	Weak transcription	Esophagus	oesophagus
47	chr1:98012200-98026400	Weak transcription	Aorta	Aorta
48	chr1:98012400-98013600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:98012400-98015200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:98012600-98013000	Enhancers	Primary neutrophils fromperipheralblood	blood

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