Variant report

Variant	rs546276944
Chromosome Location	chr2:128224600-128224601
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128223739..128227371-chr2:128227403..128230155,4	K562	blood:
2	chr2:128223739..128227156-chr2:128228484..128231083,5	K562	blood:

Variant related genes	Relation type
ENSG00000202429	Chromatin interaction

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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	esv3458275	chr2:128223577-128225946	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3458278	chr2:128223611-128225916	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3458277	chr2:128223628-128225864	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3458276	chr2:128223678-128225829	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3458279	chr2:128223692-128225828	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv11314	chr2:128223693-128225835	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv516410	chr2:128223875-128225228	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3693423	chr2:128223875-128230794	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128204800-128225600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:128206200-128237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:128206800-128233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:128208400-128238800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:128208800-128226000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:128209000-128238000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:128209200-128225400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:128209200-128237600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:128210000-128226400	Weak transcription	Esophagus	oesophagus
10	chr2:128210000-128227200	Weak transcription	Left Ventricle	heart
11	chr2:128210000-128237600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:128210200-128238000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:128210600-128225200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:128211200-128225400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:128211200-128225600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:128211400-128226600	Weak transcription	Ovary	ovary
17	chr2:128211600-128226800	Weak transcription	Brain Angular Gyrus	brain
18	chr2:128211600-128227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:128211600-128237600	Weak transcription	Right Ventricle	heart
20	chr2:128212200-128226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:128213000-128237600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:128213200-128225400	Weak transcription	Dnd41	blood
23	chr2:128213200-128237800	Weak transcription	Colonic Mucosa	Colon
24	chr2:128213400-128237800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:128213600-128225200	Weak transcription	A549	lung
26	chr2:128213600-128225400	Weak transcription	Pancreas	Pancrea
27	chr2:128213600-128226600	Weak transcription	Gastric	stomach
28	chr2:128213600-128237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:128213600-128237800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:128213800-128238000	Weak transcription	Brain Germinal Matrix	brain
31	chr2:128215400-128225200	Weak transcription	Liver	Liver
32	chr2:128215400-128226800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:128216200-128233600	Weak transcription	GM12878-XiMat	blood
34	chr2:128219800-128237600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:128220400-128239800	Weak transcription	Fetal Lung	lung
36	chr2:128221400-128226600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:128221600-128224800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:128221600-128226600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:128221600-128226800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:128221600-128227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:128221600-128229000	Weak transcription	HepG2	liver
42	chr2:128221600-128230200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:128221600-128237400	Weak transcription	HSMM	muscle
44	chr2:128221600-128237600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:128222200-128237800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:128222400-128225800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:128222400-128237600	Weak transcription	Osteobl	bone
48	chr2:128222400-128237800	Weak transcription	Fetal Brain Female	brain
49	chr2:128222600-128226800	Weak transcription	Fetal Thymus	thymus
50	chr2:128222600-128237000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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