Variant report

Variant	rs12713258
Chromosome Location	chr2:54695247-54695248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10169422	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10200103	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10496032	0.88[EUR][1000 genomes]
rs12713259	0.87[EUR][1000 genomes]
rs12988330	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12988767	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990140	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033704	0.81[EUR][1000 genomes]
rs13034739	0.81[EUR][1000 genomes]
rs13387187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390258	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13412585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17343815	0.95[ASN][1000 genomes]
rs35028480	1.00[ASN][1000 genomes]
rs4129261	0.92[EUR][1000 genomes]
rs6710809	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740698	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7573223	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7573805	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578711	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7579041	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579230	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593062	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605118	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9677271	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1004645	chr2:54686497-54718440	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1008888	chr2:54690695-54715300	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3693290	chr2:54693204-54707562	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv438348	chr2:54693204-54714066	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv817939	chr2:54693204-54718181	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54685200-54696600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:54685400-54696600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:54686400-54695600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:54686400-54697800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:54686600-54696200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:54686600-54696600	Weak transcription	Lung	lung
7	chr2:54686600-54696800	Weak transcription	NH-A	brain
8	chr2:54686600-54697000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:54686600-54698600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:54687000-54700800	Weak transcription	Brain Germinal Matrix	brain
11	chr2:54687600-54696800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:54688600-54696200	Weak transcription	Right Ventricle	heart
13	chr2:54690600-54696600	Weak transcription	Spleen	Spleen
14	chr2:54690800-54695600	Weak transcription	Fetal Brain Male	brain
15	chr2:54690800-54696200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:54690800-54697600	Weak transcription	Fetal Brain Female	brain
17	chr2:54691600-54696000	Weak transcription	HepG2	liver
18	chr2:54692200-54696600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:54692600-54695600	Weak transcription	Brain Anterior Caudate	brain
20	chr2:54692600-54695600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:54692600-54695600	Weak transcription	HSMM	muscle
22	chr2:54692600-54696200	Weak transcription	Placenta	Placenta
23	chr2:54693200-54695600	Weak transcription	A549	lung
24	chr2:54693200-54695600	Weak transcription	Osteobl	bone
25	chr2:54693200-54695800	Weak transcription	HUVEC	blood vessel
26	chr2:54693400-54695600	Weak transcription	NHDF-Ad	bronchial
27	chr2:54693400-54696200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:54694000-54695400	Enhancers	Left Ventricle	heart
29	chr2:54694000-54696800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:54694200-54695800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:54694400-54695400	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:54694400-54695600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:54694400-54695600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:54694400-54695600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:54694400-54695600	Weak transcription	Brain Angular Gyrus	brain
36	chr2:54694400-54695600	Weak transcription	Brain Substantia Nigra	brain
37	chr2:54694400-54695600	Weak transcription	HSMMtube	muscle
38	chr2:54694400-54695600	Weak transcription	NHLF	lung
39	chr2:54694400-54696000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:54694400-54696000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:54694400-54696000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:54694400-54696000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:54694400-54696200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:54694400-54696400	Weak transcription	Psoas Muscle	Psoas
45	chr2:54694400-54696400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:54694400-54696600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:54694400-54696600	Weak transcription	Right Atrium	heart
48	chr2:54694400-54696800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:54694400-54697000	Enhancers	Fetal Muscle Leg	muscle
50	chr2:54694400-54698800	Enhancers	Ovary	ovary

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