Variant report

Variant	rs2661527
Chromosome Location	chr4:48113820-48113821
allele	C/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	TCF12	chr4:48113627-48114637	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48107744..48110406-chr4:48112924..48114578,2	K562	blood:
2	chr4:48111744..48114510-chr4:48271581..48273231,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-868P	TF binding region
ENSG00000200269	Chromatin interaction
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1396049	0.83[AMR][1000 genomes]
rs16860943	1.00[AMR][1000 genomes]
rs16861067	1.00[AMR][1000 genomes]
rs1979972	1.00[AMR][1000 genomes]
rs2089508	1.00[AMR][1000 genomes]
rs2135957	0.83[AMR][1000 genomes]
rs2251240	1.00[AMR][1000 genomes]
rs2352590	0.83[AMR][1000 genomes]
rs2352591	0.83[AMR][1000 genomes]
rs2456926	0.83[AMR][1000 genomes]
rs2464500	1.00[AMR][1000 genomes]
rs2464501	0.83[AMR][1000 genomes]
rs2464506	0.83[AMR][1000 genomes]
rs2661526	1.00[AMR][1000 genomes]
rs2661531	1.00[AMR][1000 genomes]
rs2661534	1.00[AMR][1000 genomes]
rs2704397	1.00[AMR][1000 genomes]
rs2704398	1.00[AMR][1000 genomes]
rs2704427	1.00[AMR][1000 genomes]
rs2704428	1.00[AMR][1000 genomes]
rs2704429	1.00[AMR][1000 genomes]
rs2704432	1.00[AMR][1000 genomes]
rs2940329	1.00[AMR][1000 genomes]
rs34386002	1.00[AMR][1000 genomes]
rs3857073	0.83[AMR][1000 genomes]
rs4695333	0.83[AMR][1000 genomes]
rs60470389	1.00[AMR][1000 genomes]
rs6858033	0.83[AMR][1000 genomes]
rs7692882	1.00[AMR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48103400-48114000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr4:48104400-48114000	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr4:48106000-48115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:48106200-48114200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:48107400-48114400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:48109600-48114800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:48109800-48115000	Strong transcription	Primary T cells from cord blood	blood
9	chr4:48110200-48114000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:48111400-48114200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:48111400-48114800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:48111600-48114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:48111600-48114600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:48111600-48114800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:48111800-48114000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:48111800-48114000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:48111800-48114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:48111800-48114000	Weak transcription	NHEK	skin
19	chr4:48111800-48118600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:48112000-48114000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:48112800-48114400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:48112800-48114600	Enhancers	HSMM	muscle
23	chr4:48113000-48114200	Enhancers	NH-A	brain
24	chr4:48113000-48115200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:48113200-48114200	Weak transcription	HSMMtube	muscle
26	chr4:48113200-48116800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:48113600-48114200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:48113600-48114200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:48113600-48114200	Enhancers	Osteobl	bone
30	chr4:48113600-48114400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:48113600-48121800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr4:48113800-48114000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:48113800-48114200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:48113800-48114400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:48113800-48114600	Enhancers	HUES64 Cell Line	embryonic stem cell

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