Variant report

Variant	rs544656073
Chromosome Location	chr2:111883729-111883730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111883642..111885559-chr2:111913006..111915141,2	K562	blood:
2	chr2:111883516..111885711-chr2:111904275..111907579,3	K562	blood:
3	chr2:111883689..111885711-chr2:111904275..111906718,2	K562	blood:
4	chr2:111881798..111884548-chr3:37284411..37286120,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176354	Chromatin interaction
ENSG00000144674	Chromatin interaction
ENSG00000270194	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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3458156	chr2:111883046-111886204	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3458158	chr2:111883092-111886185	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3458157	chr2:111883126-111886174	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3458159	chr2:111883126-111886174	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv829619	chr2:111883138-111885375	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv963952	chr2:111883259-111893062	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111883800	Weak transcription	NHDF-Ad	bronchial
2	chr2:111881200-111888400	Weak transcription	HUVEC	blood vessel
3	chr2:111881200-111890800	Weak transcription	Right Ventricle	heart
4	chr2:111881200-111893600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:111881200-111894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:111881200-111909600	Weak transcription	NHLF	lung
8	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:111881400-111886400	Weak transcription	Fetal Kidney	kidney
10	chr2:111881400-111891000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:111881600-111884000	Genic enhancers	Liver	Liver
12	chr2:111881600-111884600	Genic enhancers	HepG2	liver
13	chr2:111881600-111885000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:111881600-111885000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:111881600-111887600	Strong transcription	Placenta	Placenta
16	chr2:111881600-111888200	Strong transcription	A549	lung
17	chr2:111881600-111888400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:111881600-111888600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:111881600-111889800	Strong transcription	K562	blood
20	chr2:111881600-111893000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:111881600-111893200	Weak transcription	Fetal Brain Female	brain
22	chr2:111881600-111897200	Weak transcription	Stomach Mucosa	stomach
23	chr2:111881600-111897400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:111881600-111901000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:111881600-111904200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:111881800-111883800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:111881800-111883800	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:111881800-111883800	Strong transcription	HMEC	breast
29	chr2:111881800-111884200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:111881800-111885000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:111881800-111885200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:111881800-111885200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:111881800-111885400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:111881800-111885400	Genic enhancers	Fetal Lung	lung
35	chr2:111881800-111886600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:111881800-111886800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:111881800-111887600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:111881800-111887800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr2:111881800-111889800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:111881800-111893000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:111881800-111893200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:111881800-111893600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:111881800-111894400	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:111881800-111900800	Weak transcription	Fetal Brain Male	brain
45	chr2:111881800-111908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:111881800-111909600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:111881800-111919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:111882200-111883800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:111882200-111883800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:111882200-111883800	Strong transcription	Fetal Muscle Trunk	muscle

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