Variant report

Variant	rs56131922
Chromosome Location	chr2:38847331-38847332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38846799..38849062-chr2:38862889..38864827,2	K562	blood:
2	chr2:38837653..38839575-chr2:38845023..38848760,3	MCF-7	breast:
3	chr2:38844900..38847632-chr2:38892837..38895832,2	K562	blood:

Variant related genes	Relation type
ENSG00000143891	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17022893	0.82[EUR][1000 genomes]
rs17022908	0.82[EUR][1000 genomes]
rs17022951	0.82[EUR][1000 genomes]
rs17022999	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278359	0.82[EUR][1000 genomes]
rs55992451	0.87[ASN][1000 genomes]
rs56768847	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58563643	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58917023	0.92[ASN][1000 genomes]
rs59036182	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706212	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6751824	1.00[ASN][1000 genomes]
rs72907944	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909820	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73930139	1.00[ASN][1000 genomes]
rs73931608	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7560608	0.88[AFR][1000 genomes]
rs7581419	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586285	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594594	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581482	chr2:38799820-38858669	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581483	chr2:38799820-38862223	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38844400-38850800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:38844600-38848000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:38845800-38848200	Enhancers	Stomach Mucosa	stomach
5	chr2:38846000-38847800	Enhancers	K562	blood
6	chr2:38846200-38847400	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:38846200-38847400	Weak transcription	Fetal Kidney	kidney
8	chr2:38846200-38848000	Bivalent Enhancer	Primary B cells from cord blood	blood
9	chr2:38846200-38848200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:38846200-38850400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:38846400-38847800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:38846400-38848200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:38846600-38847400	Flanking Active TSS	GM12878-XiMat	blood
14	chr2:38846600-38847600	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:38846600-38847800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:38846600-38847800	Enhancers	NHLF	lung
17	chr2:38846600-38848000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:38846600-38848000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:38846600-38848000	Enhancers	Osteobl	bone
20	chr2:38846600-38848800	Enhancers	HepG2	liver
21	chr2:38846800-38847400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:38846800-38847400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:38846800-38847400	Enhancers	Aorta	Aorta
24	chr2:38846800-38847400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr2:38846800-38847600	Weak transcription	HSMMtube	muscle
26	chr2:38846800-38847800	Enhancers	Adipose Nuclei	Adipose
27	chr2:38846800-38848000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:38846800-38848000	Enhancers	Fetal Lung	lung
29	chr2:38846800-38848000	Enhancers	Fetal Thymus	thymus
30	chr2:38846800-38848000	Enhancers	Stomach Smooth Muscle	stomach
31	chr2:38846800-38848000	Enhancers	Thymus	Thymus
32	chr2:38846800-38848200	Enhancers	Colon Smooth Muscle	Colon
33	chr2:38846800-38848200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr2:38847000-38847400	Enhancers	Placenta	Placenta
35	chr2:38847000-38847400	Weak transcription	HSMM	muscle
36	chr2:38847000-38847800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:38847000-38847800	Enhancers	Fetal Muscle Leg	muscle
38	chr2:38847200-38847600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:38847200-38847800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:38847200-38847800	Enhancers	Left Ventricle	heart
41	chr2:38847200-38847800	Enhancers	Right Ventricle	heart
42	chr2:38847200-38848000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:38847200-38848000	Enhancers	Ovary	ovary

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