Variant report

Variant	rs189813467
Chromosome Location	chr4:69214577-69214578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:69212970..69215845-chr4:69239349..69242311,2	MCF-7	breast:
2	chr4:69188150..69190673-chr4:69212848..69214663,2	K562	blood:
3	chr4:69213512..69216500-chr4:69770884..69773457,2	MCF-7	breast:
4	chr4:69201801..69210708-chr4:69210917..69216982,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162840	Chromatin interaction
ENSG00000083896	Chromatin interaction
ENSG00000272626	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	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv461546	chr4:69049643-69223057	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv594506	chr4:69049643-69223057	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv537132	chr4:69149648-69482831	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv2757061	chr4:69178920-69631668	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv437385	chr4:69204755-69383357	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv437386	chr4:69213885-69383357	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69204600-69214600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69211000-69216000	Active TSS	GM12878-XiMat	blood
3	chr4:69212200-69214600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr4:69212200-69214600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:69212200-69214800	Weak transcription	Spleen	Spleen
6	chr4:69212200-69215000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:69212200-69216400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:69212400-69214600	Weak transcription	Gastric	stomach
9	chr4:69212400-69215800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:69212400-69216400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:69212600-69214800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr4:69212600-69214800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr4:69212600-69215000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr4:69212600-69216000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr4:69212600-69216000	Active TSS	Fetal Intestine Large	intestine
16	chr4:69212600-69216400	Active TSS	Brain Germinal Matrix	brain
17	chr4:69212600-69216400	Active TSS	Fetal Kidney	kidney
18	chr4:69212800-69214800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr4:69212800-69214800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:69212800-69214800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:69212800-69216000	Active TSS	NHEK	skin
22	chr4:69212800-69216200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr4:69212800-69216200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr4:69212800-69216200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:69212800-69216200	Active TSS	Aorta	Aorta
26	chr4:69212800-69216200	Active TSS	Right Ventricle	heart
27	chr4:69212800-69216400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:69213000-69214600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:69213000-69214600	Flanking Active TSS	Fetal Brain Male	brain
30	chr4:69213000-69214600	Weak transcription	Stomach Mucosa	stomach
31	chr4:69213000-69214800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:69213000-69214800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr4:69213000-69215400	Active TSS	Right Atrium	heart
34	chr4:69213000-69215800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:69213000-69215800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:69213000-69215800	Active TSS	HMEC	breast
37	chr4:69213000-69216000	Active TSS	Fetal Stomach	stomach
38	chr4:69213000-69216000	Active TSS	Thymus	Thymus
39	chr4:69213000-69216200	Active TSS	Ovary	ovary
40	chr4:69213200-69214600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr4:69213200-69214600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr4:69213200-69214600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr4:69213200-69215800	Active TSS	Placenta	Placenta
44	chr4:69213200-69216000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr4:69213200-69216000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:69213200-69216000	Active TSS	NH-A	brain
47	chr4:69213200-69216200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:69213200-69216200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:69213200-69216200	Active TSS	Psoas Muscle	Psoas
50	chr4:69213200-69216200	Active TSS	HSMMtube	muscle

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