Variant report

Variant	rs371333596
Chromosome Location	chr22:31860443-31860444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31855754..31858470-chr22:31860369..31863363,2	K562	blood:
2	chr22:31853776..31856046-chr22:31858521..31860568,2	MCF-7	breast:
3	chr22:31838625..31840945-chr22:31858613..31860728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184708	Chromatin interaction
ENSG00000224623	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv1791934	chr22:31846234-31874194	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	nsv9897	chr22:31860213-31864142	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	8 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	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
4	chr22:31815000-31868200	Strong transcription	Dnd41	blood
5	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:31832600-31867800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:31836200-31873600	Weak transcription	Stomach Mucosa	stomach
9	chr22:31846000-31865800	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr22:31846400-31872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr22:31847600-31881800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr22:31847800-31868200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr22:31848000-31865600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:31848000-31867400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:31848000-31868000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr22:31848000-31868400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr22:31848200-31865800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:31848200-31867600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr22:31848200-31867800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr22:31848200-31868200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:31848200-31868400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:31848600-31867400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr22:31848600-31868000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:31848600-31868400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:31848800-31883000	Weak transcription	Fetal Heart	heart
26	chr22:31849000-31867600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:31849400-31867600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:31850200-31871400	Strong transcription	GM12878-XiMat	blood
29	chr22:31850800-31876800	Weak transcription	Esophagus	oesophagus
30	chr22:31852200-31862000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:31854200-31861800	Strong transcription	Fetal Thymus	thymus
32	chr22:31854200-31868200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr22:31854800-31884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:31855600-31864600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr22:31856200-31865000	Weak transcription	K562	blood
36	chr22:31856400-31860600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:31856400-31867800	Strong transcription	Fetal Intestine Small	intestine
38	chr22:31856600-31867400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr22:31856800-31860600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr22:31856800-31885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:31857000-31867000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr22:31857000-31867400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:31857200-31865800	Strong transcription	Fetal Brain Female	brain
44	chr22:31857400-31860600	Strong transcription	Rectal Smooth Muscle	rectum
45	chr22:31858000-31861400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:31858200-31862800	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:31858200-31877800	Weak transcription	Fetal Brain Male	brain
48	chr22:31858400-31864600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr22:31858400-31884600	Weak transcription	Psoas Muscle	Psoas
50	chr22:31859000-31863200	Weak transcription	Ovary	ovary

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