Variant report

Variant	rs56841249
Chromosome Location	chr1:86861058-86861059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86854491..86856100-chr1:86858979..86861323,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11161796	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11161797	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803763	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804733	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11810074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12079988	1.00[AMR][1000 genomes]
rs12096446	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34372019	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949810	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949857	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949858	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949875	1.00[AFR][1000 genomes]
rs72949879	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951830	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951845	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86859000-86861200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:86859400-86861400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr1:86859600-86862800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:86859800-86862200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:86859800-86862400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:86859800-86862800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:86860200-86862400	Active TSS	HMEC	breast
8	chr1:86860200-86862600	Active TSS	NHLF	lung
9	chr1:86860200-86862800	Active TSS	Right Atrium	heart
10	chr1:86860400-86861400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:86860400-86862400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:86860400-86862400	Active TSS	NHDF-Ad	bronchial
13	chr1:86860400-86862600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:86860600-86861200	Flanking Active TSS	HSMM	muscle
15	chr1:86860600-86862600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:86860800-86861200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:86860800-86861200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:86860800-86861200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:86860800-86861200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:86860800-86861200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:86860800-86861200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:86860800-86861200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:86860800-86861200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:86860800-86861200	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr1:86860800-86861200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:86860800-86861200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:86860800-86861200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:86860800-86861200	Enhancers	Aorta	Aorta
29	chr1:86860800-86861200	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr1:86860800-86861200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:86860800-86861200	Flanking Active TSS	Fetal Brain Male	brain
32	chr1:86860800-86861200	Enhancers	Stomach Mucosa	stomach
33	chr1:86860800-86861200	Enhancers	Spleen	Spleen
34	chr1:86860800-86861200	Flanking Active TSS	Hela-S3	cervix
35	chr1:86860800-86861400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr1:86860800-86861400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr1:86860800-86861400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:86860800-86861400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:86860800-86861400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr1:86860800-86861400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr1:86860800-86861400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr1:86860800-86861400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:86860800-86861400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:86860800-86861400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:86860800-86861400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:86860800-86861400	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr1:86860800-86861400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr1:86860800-86861400	Flanking Active TSS	Fetal Brain Female	brain
49	chr1:86860800-86861400	Flanking Active TSS	Fetal Lung	lung
50	chr1:86860800-86861400	Flanking Active TSS	Placenta	Placenta

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