Variant report

Variant	rs539178355
Chromosome Location	chr2:73430794-73430795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73429491..73432033-chr2:73440311..73443451,3	MCF-7	breast:
2	chr2:73421814..73423678-chr2:73429913..73432864,2	K562	blood:
3	chr2:73429115..73431039-chr2:73464836..73467648,3	MCF-7	breast:
4	chr2:73420895..73422888-chr2:73429762..73432345,2	MCF-7	breast:
5	chr2:73427265..73431524-chr2:73439833..73442659,3	K562	blood:

Variant related genes	Relation type
ENSG00000135632	Chromatin interaction
ENSG00000135624	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2388236	chr2:73430755-73431424	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73427200-73430800	Weak transcription	HepG2	liver
2	chr2:73429000-73430800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:73429000-73430800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:73429000-73430800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:73429200-73430800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:73429200-73430800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:73429200-73430800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:73429200-73430800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:73429200-73430800	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr2:73429200-73430800	Enhancers	Lung	lung
11	chr2:73429400-73430800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr2:73429400-73430800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
13	chr2:73429400-73430800	Enhancers	Gastric	stomach
14	chr2:73429400-73431000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr2:73429600-73430800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr2:73429800-73430800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr2:73429800-73431800	Bivalent Enhancer	Placenta	Placenta
18	chr2:73430000-73430800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:73430000-73430800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:73430000-73430800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr2:73430000-73430800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:73430200-73430800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr2:73430200-73430800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:73430200-73430800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
25	chr2:73430200-73430800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr2:73430400-73430800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr2:73430400-73430800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr2:73430400-73430800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr2:73430400-73430800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr2:73430400-73430800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:73430400-73430800	Enhancers	Pancreas	Pancrea
32	chr2:73430600-73430800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr2:73430600-73430800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:73430600-73430800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:73430600-73430800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr2:73430600-73430800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
37	chr2:73430600-73430800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
38	chr2:73430600-73430800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr2:73430600-73430800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
40	chr2:73430600-73430800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:73430600-73430800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:73430600-73430800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:73430600-73430800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr2:73430600-73430800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:73430600-73430800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
46	chr2:73430600-73430800	Enhancers	Spleen	Spleen

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