Variant report

Variant	rs558287881
Chromosome Location	chr2:20131266-20131267
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20100548..20102171-chr2:20130981..20133231,2	MCF-7	breast:
2	chr2:20131153..20134079-chr2:20137920..20140711,2	MCF-7	breast:
3	chr2:20128853..20131612-chr2:20133463..20134985,2	K562	blood:

Variant related genes	Relation type
ENSG00000271991	Chromatin interaction
ENSG00000183891	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv873715	chr2:20059323-20144372	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	nsv521619	chr2:20098208-20150817	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv527453	chr2:20109061-20160209	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1798392	chr2:20131079-20173255	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20102800-20173200	Weak transcription	Fetal Brain Male	brain
2	chr2:20108800-20137400	Weak transcription	Right Ventricle	heart
3	chr2:20114400-20143800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:20117600-20188400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:20121600-20135800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:20123400-20135800	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:20124800-20142800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:20125200-20132800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:20125400-20132800	Weak transcription	Gastric	stomach
10	chr2:20126400-20137200	Weak transcription	Colonic Mucosa	Colon
11	chr2:20127200-20132200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:20127200-20132800	Weak transcription	NH-A	brain
13	chr2:20127400-20132200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:20127400-20167800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:20127600-20139200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:20127800-20135800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:20128000-20137400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:20128000-20139200	Weak transcription	Pancreas	Pancrea
19	chr2:20128200-20132600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:20128400-20131800	Strong transcription	HSMM	muscle
21	chr2:20128400-20188400	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:20128400-20189200	Weak transcription	Small Intestine	intestine
23	chr2:20128600-20131800	Strong transcription	HepG2	liver
24	chr2:20128600-20132800	Weak transcription	Placenta	Placenta
25	chr2:20128600-20132800	Weak transcription	NHLF	lung
26	chr2:20128600-20133600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr2:20128600-20136000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:20128800-20132000	Strong transcription	Hela-S3	cervix
29	chr2:20129000-20132600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:20129000-20135400	Weak transcription	Brain Germinal Matrix	brain
31	chr2:20129200-20131800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:20129200-20132800	Weak transcription	Osteobl	bone
33	chr2:20129400-20131600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:20129400-20132000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:20129400-20132800	Weak transcription	Fetal Kidney	kidney
36	chr2:20129400-20135600	Weak transcription	Primary T cells from cord blood	blood
37	chr2:20129400-20135800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:20129400-20135800	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:20129400-20135800	Weak transcription	Fetal Thymus	thymus
40	chr2:20129400-20138600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:20129400-20143000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:20129400-20144000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:20129400-20184800	Weak transcription	Esophagus	oesophagus
44	chr2:20129600-20132400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:20129600-20132800	Weak transcription	Fetal Heart	heart
46	chr2:20129600-20133000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:20129600-20136000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:20129600-20138000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:20129600-20149800	Weak transcription	Spleen	Spleen
50	chr2:20129600-20189000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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