Variant report

Variant	rs563628865
Chromosome Location	chr2:55748007-55748008
allele	A/C
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	chr2:55746047..55748264-chr2:55800311..55802508,2	MCF-7	breast:
2	chr2:55745428..55748041-chr2:55756685..55759151,2	MCF-7	breast:
3	chr2:55746181..55748765-chr2:55843177..55845713,3	MCF-7	breast:
4	chr2:55645285..55648583-chr2:55744780..55749543,7	K562	blood:
5	chr2:55745295..55748178-chr2:55844853..55846436,2	K562	blood:
6	chr2:55728050..55729964-chr2:55747020..55749706,2	MCF-7	breast:
7	chr2:55747318..55749114-chr2:55750754..55752618,2	MCF-7	breast:
8	chr2:55494907..55497145-chr2:55746886..55748961,2	MCF-7	breast:
9	chr2:55645285..55648583-chr2:55745099..55748276,4	K562	blood:
10	chr2:55734348..55736732-chr2:55747645..55749289,2	K562	blood:
11	chr2:55746965..55749333-chr2:55759467..55761461,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163001	Chromatin interaction
ENSG00000115355	Chromatin interaction
ENSG00000085760	Chromatin interaction
ENSG00000138041	Chromatin interaction
ENSG00000272606	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55745200-55748200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:55745600-55748200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:55745800-55748200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:55745800-55748200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:55745800-55748200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:55745800-55748200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:55745800-55748200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:55745800-55748200	Active TSS	Right Atrium	heart
9	chr2:55745800-55748200	Active TSS	NHLF	lung
10	chr2:55745800-55748400	Active TSS	Brain Anterior Caudate	brain
11	chr2:55745800-55748400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:55746000-55748200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:55746000-55748200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:55746000-55748200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:55746000-55748200	Active TSS	HSMM	muscle
16	chr2:55746800-55748200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr2:55747000-55748200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr2:55747000-55748200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:55747000-55748600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:55747200-55748200	Flanking Active TSS	HUVEC	blood vessel
21	chr2:55747200-55748400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:55747200-55748400	Flanking Active TSS	Dnd41	blood
23	chr2:55747400-55748200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:55747400-55748200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr2:55747600-55748200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:55747600-55748200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:55747600-55748200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:55747600-55748200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr2:55747600-55748200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr2:55747600-55748200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:55747600-55748200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr2:55747600-55748200	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr2:55747600-55748200	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr2:55747600-55748200	Flanking Active TSS	Fetal Lung	lung
35	chr2:55747600-55748200	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr2:55747600-55748200	Enhancers	Small Intestine	intestine
37	chr2:55747600-55748200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr2:55747600-55748200	Flanking Active TSS	HMEC	breast
39	chr2:55747600-55748200	Flanking Active TSS	NHEK	skin
40	chr2:55747600-55748200	Flanking Active TSS	Osteobl	bone
41	chr2:55747600-55748400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:55747600-55748400	Flanking Active TSS	Hela-S3	cervix
43	chr2:55747600-55752200	Weak transcription	Lung	lung
44	chr2:55747600-55753000	Weak transcription	Spleen	Spleen
45	chr2:55747800-55748200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:55747800-55748200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr2:55747800-55748200	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr2:55747800-55748200	Enhancers	Primary B cells from peripheral blood	blood
49	chr2:55747800-55748200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr2:55747800-55748200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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