Variant report

Variant	rs529981439
Chromosome Location	chr3:47891991-47891992
allele	-/AAGT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47867869..47870552-chr3:47891035..47892717,2	K562	blood:
2	chr3:47864742..47870552-chr3:47891000..47894370,6	K562	blood:
3	chr3:47891368..47892453-chr3:48031167..48032088,3	K562	blood:
4	chr3:47891319..47892184-chr3:48031144..48032035,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132153	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	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	nsv869583	chr3:47887111-47897773	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47867800-47899200	Strong transcription	Fetal Brain Female	brain
2	chr3:47867800-47918800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:47868000-47903000	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:47868000-47915200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:47868200-47892200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:47868200-47902400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:47868400-47899200	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr3:47868400-47901200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:47868400-47902400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:47868400-47903000	Strong transcription	Placenta	Placenta
11	chr3:47868400-47903400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:47868400-47903400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:47868400-47916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:47868400-47919000	Strong transcription	Fetal Stomach	stomach
15	chr3:47868600-47893600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:47868600-47899000	Strong transcription	Thymus	Thymus
17	chr3:47868600-47899200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr3:47868600-47899200	Strong transcription	Primary T cells from cord blood	blood
19	chr3:47868600-47899400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:47868600-47901800	Strong transcription	Fetal Intestine Large	intestine
21	chr3:47868600-47902200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr3:47868600-47902600	Strong transcription	Liver	Liver
23	chr3:47868600-47902800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:47868600-47912200	Strong transcription	Fetal Intestine Small	intestine
25	chr3:47868800-47894000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:47868800-47902000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:47868800-47902200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr3:47868800-47902400	Strong transcription	Osteobl	bone
29	chr3:47869000-47897400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:47869000-47897400	Strong transcription	Adipose Nuclei	Adipose
31	chr3:47869000-47897800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:47869000-47899400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:47869000-47902400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:47869000-47918600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:47869200-47902200	Strong transcription	Dnd41	blood
36	chr3:47870800-47931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr3:47871200-47899200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:47871400-47892600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:47871400-47899200	Strong transcription	Fetal Thymus	thymus
40	chr3:47871600-47892000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:47871600-47894200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:47871600-47899200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:47871800-47899200	Strong transcription	Gastric	stomach
44	chr3:47871800-47901600	Strong transcription	Brain Germinal Matrix	brain
45	chr3:47872000-47899400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:47872200-47899200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr3:47875800-47893200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:47876000-47899000	Strong transcription	Rectal Smooth Muscle	rectum
49	chr3:47877200-47892400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr3:47877200-47895800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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