Variant report

Variant	rs56252976
Chromosome Location	chr2:127911678-127911679
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127900252..127902161-chr2:127909781..127912355,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11902217	1.00[AMR][1000 genomes]
rs13427350	1.00[AMR][1000 genomes]
rs35304768	1.00[AMR][1000 genomes]
rs4150488	1.00[AFR][1000 genomes]
rs4446029	1.00[AMR][1000 genomes]
rs6733220	1.00[AMR][1000 genomes]
rs7561028	1.00[AFR][1000 genomes]
rs7586713	1.00[AMR][1000 genomes]
rs9282677	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127898600-127915200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:127905600-127915000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:127909600-127915800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:127909800-127912200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:127910000-127913200	Enhancers	NH-A	brain
6	chr2:127910200-127912200	Enhancers	Brain Substantia Nigra	brain
7	chr2:127910200-127913000	Enhancers	HUVEC	blood vessel
8	chr2:127910200-127914200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:127910200-127914600	Enhancers	Osteobl	bone
10	chr2:127910400-127911800	Enhancers	Fetal Brain Male	brain
11	chr2:127910400-127913800	Enhancers	HSMM	muscle
12	chr2:127910400-127915800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:127910600-127912400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:127910600-127915600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:127910800-127912800	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:127910800-127915800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:127911000-127912000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:127911000-127912400	Enhancers	NHEK	skin
19	chr2:127911000-127912800	Enhancers	Fetal Lung	lung
20	chr2:127911000-127913000	Enhancers	Brain Anterior Caudate	brain
21	chr2:127911000-127913000	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:127911000-127914400	Enhancers	NHLF	lung
23	chr2:127911000-127915600	Enhancers	NHDF-Ad	bronchial
24	chr2:127911000-127915800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:127911000-127916400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:127911200-127911800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:127911200-127912000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:127911200-127912200	Enhancers	A549	lung
29	chr2:127911200-127912400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:127911200-127912400	Enhancers	HMEC	breast
31	chr2:127911200-127912400	Enhancers	HSMMtube	muscle
32	chr2:127911200-127912800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:127911200-127913000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:127911200-127913000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:127911200-127913200	Enhancers	Brain Hippocampus Middle	brain
36	chr2:127911200-127914000	Enhancers	Hela-S3	cervix
37	chr2:127911200-127914200	Enhancers	Ovary	ovary
38	chr2:127911200-127915800	Enhancers	Fetal Muscle Leg	muscle
39	chr2:127911200-127917000	Enhancers	Fetal Stomach	stomach
40	chr2:127911400-127911800	Bivalent Enhancer	Placenta	Placenta
41	chr2:127911400-127912000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:127911400-127912000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr2:127911400-127912200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:127911400-127912200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:127911400-127912200	Enhancers	Right Atrium	heart
46	chr2:127911400-127912800	Weak transcription	Fetal Kidney	kidney
47	chr2:127911400-127914000	Enhancers	Adipose Nuclei	Adipose
48	chr2:127911600-127911800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:127911600-127912600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:127911600-127914000	Weak transcription	Colon Smooth Muscle	Colon

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