Variant report

Variant	rs375457860
Chromosome Location	chr22:31846811-31846812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31846781-31846826	MCF-7	breast:	n/a	n/a
2	POLR2A	chr22:31846575-31847173	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	22:31836635-31847259..22:31936958-31958600	GM12878	blood:
2	22:31836635-31847259..22:32529813-32538538	K562	blood:
3	chr22:31742672..31744282-chr22:31844664..31847017,2	MCF-7	breast:
4	22:31836635-31847259..22:32284948-32287956	Hela-S3	cervix:

Variant related genes	Relation type
EIF4ENIF1	TF binding region
ENSG00000240591	TF binding region
ENSG00000227813	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000239674	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	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

No data

Chromatin state (count:125 , 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	chr22:31804600-31847000	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:31815000-31868200	Strong transcription	Dnd41	blood
6	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:31822400-31859800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr22:31829600-31852000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr22:31831200-31850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr22:31832600-31867800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:31833200-31847200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr22:31836200-31873600	Weak transcription	Stomach Mucosa	stomach
14	chr22:31836800-31853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr22:31838200-31859000	Weak transcription	Hela-S3	cervix
16	chr22:31838400-31849800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr22:31838600-31854400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:31839200-31850000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:31840800-31857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:31841200-31849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr22:31841400-31848200	Weak transcription	NH-A	brain
22	chr22:31841400-31850200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr22:31842200-31848400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr22:31842600-31848000	Weak transcription	NHDF-Ad	bronchial
25	chr22:31842600-31848200	Weak transcription	K562	blood
26	chr22:31843000-31850000	Weak transcription	HepG2	liver
27	chr22:31843000-31851800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:31843400-31847200	Strong transcription	Spleen	Spleen
29	chr22:31843400-31849000	Weak transcription	HMEC	breast
30	chr22:31843600-31848200	Weak transcription	HUVEC	blood vessel
31	chr22:31843600-31849600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr22:31843600-31850000	Weak transcription	Small Intestine	intestine
33	chr22:31843800-31849200	Weak transcription	Colon Smooth Muscle	Colon
34	chr22:31844000-31849400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr22:31844200-31849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr22:31844400-31847000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:31844400-31848200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr22:31844400-31848800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:31844400-31849800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:31844400-31850000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr22:31844400-31850000	Weak transcription	Brain Angular Gyrus	brain
42	chr22:31844400-31850000	Weak transcription	Esophagus	oesophagus
43	chr22:31844400-31850000	Weak transcription	Pancreas	Pancrea
44	chr22:31844600-31847600	Weak transcription	Left Ventricle	heart
45	chr22:31844600-31847600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr22:31844600-31847800	Weak transcription	Primary B cells from cord blood	blood
47	chr22:31844600-31848200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:31844600-31848200	Weak transcription	Fetal Brain Female	brain
49	chr22:31844600-31848400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:31844600-31848800	Weak transcription	Fetal Kidney	kidney

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