Variant report

Variant	rs73136279
Chromosome Location	chr4:48110849-48110850
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	PBX3	chr4:48110671-48111127	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr4:48110660-48111124	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
RNU6-838P	TF binding region

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60450073	0.92[AFR][1000 genomes]
rs73136278	0.88[AFR][1000 genomes]
rs73151618	0.81[AFR][1000 genomes]
rs73151620	0.81[AFR][1000 genomes]
rs73151628	0.92[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48097800-48111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:48103400-48114000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:48104400-48114000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr4:48106000-48115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:48106200-48111200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:48106200-48114200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:48107400-48114400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:48109200-48111200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:48109400-48111600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:48109400-48111600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:48109600-48111400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:48109600-48113600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:48109600-48114800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:48109800-48115000	Strong transcription	Primary T cells from cord blood	blood
16	chr4:48110000-48111600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:48110200-48111800	Enhancers	Liver	Liver
18	chr4:48110200-48114000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:48110400-48111400	Enhancers	Fetal Intestine Small	intestine
20	chr4:48110400-48111600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:48110400-48111800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:48110600-48111400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:48110800-48111200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:48110800-48111400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:48110800-48111600	Enhancers	HMEC	breast
26	chr4:48110800-48111800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:48110800-48111800	Enhancers	Stomach Mucosa	stomach
28	chr4:48110800-48111800	Enhancers	NHEK	skin

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