Variant report

Variant	rs61745743
Chromosome Location	chr1:114402023-114402024
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	chr1:114399687..114402179-chr1:114447630..114449535,2	K562	blood:

Variant related genes	Relation type
ENSG00000134262	Chromatin interaction
ENSG00000118655	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12090627	0.81[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114355800-114413000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:114378000-114402600	Weak transcription	Colonic Mucosa	Colon
3	chr1:114394400-114402200	Strong transcription	Primary T cells from cord blood	blood
4	chr1:114396800-114402200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr1:114397000-114402400	Strong transcription	Dnd41	blood
6	chr1:114397600-114402600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:114397800-114409800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:114399200-114402600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:114399200-114402600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:114399400-114402200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:114399400-114402200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:114399400-114402600	Weak transcription	HSMM	muscle
13	chr1:114399400-114403200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:114399400-114403200	Weak transcription	HSMMtube	muscle
15	chr1:114400000-114402200	Flanking Active TSS	GM12878-XiMat	blood
16	chr1:114400200-114405600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:114401400-114402200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr1:114401400-114403200	Weak transcription	Small Intestine	intestine
19	chr1:114401600-114402200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:114401600-114403800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:114401600-114406000	Weak transcription	Thymus	Thymus
22	chr1:114401600-114409000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:114401600-114412000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:114401800-114402200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:114401800-114402600	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr1:114401800-114402600	Flanking Active TSS	K562	blood
27	chr1:114401800-114403000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:114401800-114403200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr1:114401800-114403200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:114401800-114403400	Enhancers	Duodenum Mucosa	Duodenum
31	chr1:114401800-114404000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:114401800-114404600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:114401800-114410800	Weak transcription	Fetal Thymus	thymus
34	chr1:114402000-114402200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:114402000-114402200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:114402000-114402200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:114402000-114402200	Active TSS	Osteobl	bone
38	chr1:114402000-114402400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:114402000-114402400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr1:114402000-114402600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:114402000-114402600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr1:114402000-114402600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:114402000-114402800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr1:114402000-114402800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr1:114402000-114402800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:114402000-114402800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:114402000-114403400	Enhancers	NHEK	skin
48	chr1:114402000-114403800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:114402000-114403800	Enhancers	NHDF-Ad	bronchial
50	chr1:114402000-114404000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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