Variant report

Variant	rs121913512
Chromosome Location	chr4:55594221-55594222
allele	A/G
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	RELA	chr4:55593093-55595399	GM19099	blood:	n/a	chr4:55593723-55593732 chr4:55593723-55593732
2	RELA	chr4:55593101-55594273	GM19193	blood:	n/a	chr4:55593723-55593732 chr4:55593723-55593732

Variant related genes	Relation type
KIT	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv966517	chr4:55593589-55598141	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:55576400-55602000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:55576400-55602600	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:55584400-55606200	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:55584800-55596000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:55585200-55608400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:55586200-55595000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:55586600-55604600	Weak transcription	Lung	lung
10	chr4:55587800-55607600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:55588200-55608000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:55588600-55611600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:55589600-55608400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:55589800-55607400	Weak transcription	Left Ventricle	heart
15	chr4:55590000-55603400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:55590000-55608000	Strong transcription	Primary hematopoietic stem cells	blood
17	chr4:55590600-55596000	Weak transcription	Fetal Brain Male	brain
18	chr4:55590600-55602200	Weak transcription	Fetal Brain Female	brain
19	chr4:55591200-55597600	Weak transcription	Fetal Kidney	kidney
20	chr4:55591800-55599200	Weak transcription	Adipose Nuclei	Adipose
21	chr4:55592600-55609000	Weak transcription	Fetal Stomach	stomach
22	chr4:55593000-55594800	Enhancers	Primary B cells from cord blood	blood
23	chr4:55593200-55594400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr4:55593200-55594400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:55593200-55594400	Enhancers	HUVEC	blood vessel
26	chr4:55593200-55595600	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:55593400-55595000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:55593400-55595000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:55593400-55596200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:55593400-55598200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:55593400-55607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:55593600-55594400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:55593600-55594400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:55593600-55602600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:55593600-55606800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:55593800-55594800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:55593800-55598200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:55593800-55600400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:55594000-55595000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:55594000-55596000	Weak transcription	NHDF-Ad	bronchial
41	chr4:55594000-55597200	Weak transcription	NHLF	lung
42	chr4:55594200-55594400	Flanking Active TSS	GM12878-XiMat	blood
43	chr4:55594200-55594600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:55594200-55597000	Weak transcription	Ovary	ovary
45	chr4:55594200-55602200	Weak transcription	Aorta	Aorta

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