Variant report

Variant	rs12064492
Chromosome Location	chr1:221612511-221612512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12060136	0.82[EUR][1000 genomes]
rs12084674	1.00[EUR][1000 genomes]
rs12086056	1.00[EUR][1000 genomes]
rs12093693	1.00[EUR][1000 genomes]
rs74144267	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74144273	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221604800-221612800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:221605800-221613600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:221606200-221613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:221608200-221615000	Enhancers	Hela-S3	cervix
5	chr1:221608600-221612800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:221608600-221613800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:221609000-221613800	Enhancers	Osteobl	bone
8	chr1:221609200-221612600	Weak transcription	HSMMtube	muscle
9	chr1:221609200-221612800	Weak transcription	NHLF	lung
10	chr1:221609200-221613400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:221609400-221612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:221609400-221612600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:221609400-221612800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:221609400-221613000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:221609400-221613000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:221609600-221612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:221609600-221613400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:221609800-221613000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:221610600-221612800	Weak transcription	Fetal Lung	lung
20	chr1:221611000-221613800	Enhancers	NH-A	brain
21	chr1:221611000-221615000	Enhancers	HSMM	muscle
22	chr1:221611200-221615000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:221611400-221613600	Enhancers	NHEK	skin
24	chr1:221611400-221613800	Enhancers	NHDF-Ad	bronchial
25	chr1:221611400-221614000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:221611400-221615000	Enhancers	HUVEC	blood vessel
27	chr1:221611400-221615800	Enhancers	HMEC	breast
28	chr1:221611600-221612600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:221612000-221612800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:221612000-221612800	Enhancers	A549	lung
31	chr1:221612000-221614000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:221612200-221612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:221612200-221612800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:221612200-221613800	Enhancers	GM12878-XiMat	blood
35	chr1:221612200-221614200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr1:221612200-221614400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:221612400-221612600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:221612400-221613600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:221612400-221613800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:221612400-221614600	Enhancers	Fetal Heart	heart

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