Variant report

Variant	rs564851119
Chromosome Location	chr3:47913684-47913685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47866518..47868844-chr3:47913632..47916237,2	K562	blood:
2	chr3:47908495..47911109-chr3:47911186..47914669,4	K562	blood:
3	chr3:47898431..47902857-chr3:47908612..47913870,6	K562	blood:
4	chr3:47912898..47916471-chr3:47916920..47919388,4	K562	blood:

Variant related genes	Relation type
ENSG00000132153	Chromatin interaction
ENSG00000047849	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834679	chr3:47749475-47924006	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
2	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1796001	chr3:47912703-48012797	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1826403	chr3:47912703-48012797	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47867800-47918800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:47868000-47915200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:47868400-47916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:47868400-47919000	Strong transcription	Fetal Stomach	stomach
5	chr3:47869000-47918600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:47870800-47931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:47884600-47918400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:47885000-47914800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:47894800-47917400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:47894800-47919400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:47896600-47919600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr3:47899000-47919000	Weak transcription	Right Atrium	heart
13	chr3:47903800-47915800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:47904000-47915000	Strong transcription	Ovary	ovary
15	chr3:47904000-47915600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:47904000-47918600	Strong transcription	Osteobl	bone
17	chr3:47904200-47915400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr3:47904200-47917400	Strong transcription	HSMM	muscle
19	chr3:47904200-47917400	Strong transcription	NH-A	brain
20	chr3:47904200-47917600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:47904200-47918600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:47904400-47915200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr3:47904400-47916400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:47904600-47915000	Strong transcription	Colon Smooth Muscle	Colon
25	chr3:47904600-47918600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:47904600-47918800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:47904600-47919000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:47904800-47914800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr3:47904800-47914800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:47904800-47914800	Strong transcription	HMEC	breast
31	chr3:47904800-47915000	Strong transcription	Fetal Brain Female	brain
32	chr3:47904800-47915000	Strong transcription	HepG2	liver
33	chr3:47904800-47915200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:47904800-47915200	Strong transcription	Fetal Thymus	thymus
35	chr3:47904800-47915400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:47904800-47915400	Strong transcription	Primary T cells from cord blood	blood
37	chr3:47904800-47915400	Strong transcription	NHLF	lung
38	chr3:47904800-47916000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:47904800-47916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:47904800-47916400	Strong transcription	NHEK	skin
41	chr3:47904800-47917400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:47904800-47917400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr3:47904800-47917400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:47904800-47917400	Strong transcription	Dnd41	blood
45	chr3:47904800-47917400	Strong transcription	HSMMtube	muscle
46	chr3:47904800-47917600	Strong transcription	Adipose Nuclei	Adipose
47	chr3:47904800-47918000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:47904800-47919200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:47904800-47919200	Strong transcription	Liver	Liver
50	chr3:47905000-47915200	Strong transcription	H1 Cell Line	embryonic stem cell

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