Variant report

Variant	rs72920521
Chromosome Location	chr2:54819401-54819402
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54783987..54787753-chr2:54814113..54820814,10	K562	blood:
2	chr2:54818034..54820422-chr2:54821780..54823433,2	MCF-7	breast:
3	chr2:54785168..54787003-chr2:54819314..54822161,2	K562	blood:
4	chr2:54815000..54820095-chr2:54820709..54825309,10	K562	blood:
5	chr2:54815707..54819448-chr2:54820160..54824681,7	K562	blood:
6	chr2:54818759..54820876-chr2:54830874..54833017,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv961318	chr2:54818096-54823449	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
2	chr2:54804000-54822400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:54805600-54819800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:54807200-54819800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:54808800-54822800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:54809400-54821600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:54809600-54825800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:54814000-54822800	Weak transcription	Ovary	ovary
11	chr2:54814200-54819600	Weak transcription	Fetal Stomach	stomach
12	chr2:54814400-54819800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr2:54814800-54819600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:54814800-54819800	Weak transcription	HSMMtube	muscle
15	chr2:54814800-54820000	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:54815000-54819800	Weak transcription	Fetal Brain Female	brain
17	chr2:54815400-54823400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:54816000-54820400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:54816200-54830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:54816600-54822400	Weak transcription	Gastric	stomach
21	chr2:54816600-54822400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:54816600-54822600	Weak transcription	Colonic Mucosa	Colon
23	chr2:54816600-54828400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:54816800-54819800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:54816800-54819800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:54816800-54819800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:54816800-54819800	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:54816800-54819800	Enhancers	Fetal Thymus	thymus
29	chr2:54816800-54820000	Weak transcription	HSMM	muscle
30	chr2:54816800-54820800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:54816800-54821200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:54816800-54822400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:54816800-54822600	Weak transcription	Placenta	Placenta
34	chr2:54816800-54823000	Weak transcription	Aorta	Aorta
35	chr2:54816800-54823200	Weak transcription	Fetal Kidney	kidney
36	chr2:54816800-54823400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:54817000-54822400	Weak transcription	NHLF	lung
38	chr2:54817000-54822600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:54817000-54822800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:54817000-54823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:54817000-54823200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:54817000-54825800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:54817000-54826200	Weak transcription	NHDF-Ad	bronchial
44	chr2:54817400-54822600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:54817400-54823000	Weak transcription	Dnd41	blood
46	chr2:54817400-54823200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr2:54817400-54823400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:54817400-54825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:54817600-54820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:54817600-54820000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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