Variant report

Variant	rs552175122
Chromosome Location	chr2:9893693-9893694
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9886336..9889527-chr2:9892124..9895525,3	MCF-7	breast:
2	chr2:9893434..9894306-chr6:31619956..31620466,2	Hela-S3	cervix:
3	chr2:9893059..9895633-chr2:9899321..9902671,3	K562	blood:
4	chr2:9891910..9893733-chr2:9895279..9898420,3	MCF-7	breast:
5	chr2:9893534..9896583-chr2:9907885..9911717,3	K562	blood:
6	chr2:9772230..9774093-chr2:9892101..9894340,2	MCF-7	breast:
7	chr2:9892015..9895829-chr2:9904744..9907713,4	K562	blood:
8	chr2:9892015..9894940-chr2:9904744..9907619,3	K562	blood:
9	chr2:9888046..9890254-chr2:9893584..9895138,2	K562	blood:
10	chr2:9851071..9852686-chr2:9893395..9896154,2	K562	blood:
11	chr2:9769789..9771364-chr2:9892124..9894482,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243491	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000240960	Chromatin interaction
ENSG00000134308	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	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1014911	chr2:9863969-9905959	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv518227	chr2:9893454-9909114	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9889800-9896800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr2:9890800-9894200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr2:9890800-9895800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:9891000-9895800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr2:9891600-9896800	Weak transcription	Psoas Muscle	Psoas
6	chr2:9892000-9894200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:9892000-9897800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr2:9892400-9895600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:9892400-9898600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:9892600-9893800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:9892600-9893800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:9892600-9893800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:9892600-9893800	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr2:9892600-9893800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr2:9892600-9893800	Flanking Active TSS	Osteobl	bone
16	chr2:9892600-9894200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:9892600-9894200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:9892600-9894400	Flanking Active TSS	A549	lung
19	chr2:9892600-9894600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:9892600-9894600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:9892600-9894600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:9892600-9894800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:9892600-9894800	Enhancers	Fetal Intestine Large	intestine
24	chr2:9892600-9894800	Enhancers	Fetal Intestine Small	intestine
25	chr2:9892600-9895000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:9892600-9895200	Flanking Active TSS	Hela-S3	cervix
27	chr2:9892600-9895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:9892600-9897600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:9892800-9893800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:9892800-9893800	Flanking Active TSS	HSMMtube	muscle
31	chr2:9892800-9894000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:9892800-9894000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:9892800-9894400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:9892800-9894800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:9892800-9894800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr2:9892800-9894800	Bivalent Enhancer	Placenta	Placenta
37	chr2:9892800-9894800	Enhancers	Pancreas	Pancrea
38	chr2:9892800-9894800	Flanking Active TSS	NHEK	skin
39	chr2:9892800-9895000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:9892800-9895000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:9892800-9895000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr2:9892800-9895200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:9892800-9895200	Enhancers	Spleen	Spleen
44	chr2:9892800-9895400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:9892800-9895400	Enhancers	Thymus	Thymus
46	chr2:9892800-9895600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:9892800-9895800	Enhancers	Fetal Thymus	thymus
48	chr2:9892800-9897400	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:9893000-9893800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:9893000-9893800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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