Variant report

Variant	rs573405068
Chromosome Location	chr2:54293204-54293205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54184085..54186543-chr2:54292825..54294983,2	K562	blood:
2	chr2:54292163..54295767-chr2:54296379..54301634,7	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1010175	chr2:54292951-54343466	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54278800-54302400	Weak transcription	Left Ventricle	heart
2	chr2:54280800-54310000	Weak transcription	Ovary	ovary
3	chr2:54280800-54315000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:54280800-54315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:54280800-54331000	Weak transcription	Aorta	Aorta
6	chr2:54281600-54308800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:54282200-54293800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:54287000-54310000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:54287200-54307000	Weak transcription	Primary T cells from cord blood	blood
10	chr2:54287400-54295000	Weak transcription	K562	blood
11	chr2:54289800-54317600	Weak transcription	Primary B cells from cord blood	blood
12	chr2:54290600-54293600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:54290600-54293800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:54290600-54294400	Enhancers	HMEC	breast
15	chr2:54291000-54293800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:54291200-54342000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:54291400-54295200	Weak transcription	Stomach Mucosa	stomach
18	chr2:54291600-54293600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:54291600-54295000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:54291600-54295200	Weak transcription	Psoas Muscle	Psoas
21	chr2:54291600-54298000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:54291800-54293400	Enhancers	Osteobl	bone
23	chr2:54291800-54294600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:54291800-54295600	Enhancers	HSMMtube	muscle
25	chr2:54291800-54304800	Weak transcription	Fetal Kidney	kidney
26	chr2:54292000-54293600	Enhancers	HSMM	muscle
27	chr2:54292000-54308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:54292200-54293400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:54292200-54293600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:54292200-54293600	Enhancers	NHLF	lung
31	chr2:54292400-54293400	Enhancers	Fetal Brain Female	brain
32	chr2:54292400-54293400	Enhancers	NH-A	brain
33	chr2:54292400-54293600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:54292600-54293400	Strong transcription	Fetal Muscle Leg	muscle
35	chr2:54292800-54293400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr2:54292800-54293400	Flanking Active TSS	NHEK	skin
37	chr2:54293000-54306000	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:54293200-54293400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:54293200-54293600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:54293200-54293800	Enhancers	NHDF-Ad	bronchial
41	chr2:54293200-54295000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:54293200-54295400	Enhancers	Fetal Brain Male	brain
43	chr2:54293200-54306200	Weak transcription	Brain Anterior Caudate	brain
44	chr2:54293200-54306200	Weak transcription	Brain Cingulate Gyrus	brain

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