Variant report

Variant	rs2968803
Chromosome Location	chr2:55361670-55361671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55272140..55279868-chr2:55356344..55371606,28	K562	blood:
2	chr2:55269242..55271326-chr2:55360631..55363213,2	K562	blood:
3	chr2:55275855..55279437-chr2:55359990..55364186,7	K562	blood:
4	chr2:55359631..55362469-chr2:55389581..55391287,2	MCF-7	breast:
5	chr2:55350017..55352674-chr2:55360663..55363208,2	K562	blood:
6	chr2:55354045..55358992-chr2:55359264..55362961,10	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1444261	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2920845	0.86[AFR][1000 genomes]
rs2920848	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2920849	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2920852	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2920853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2968784	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2968785	0.94[EUR][1000 genomes]
rs2968812	0.80[GIH][hapmap]
rs2972061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268958	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4530400	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4672021	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6708596	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6747682	1.00[ASW][hapmap]

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	esv3332992	chr2:55361532-55361912	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2968803	FLJ31438	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55360400-55361800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr2:55360400-55361800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:55360400-55361800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:55360400-55361800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr2:55360400-55362000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr2:55360400-55362200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:55360600-55361800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:55360600-55361800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:55360600-55361800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:55360600-55361800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:55360600-55361800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:55360600-55361800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr2:55360600-55361800	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr2:55360600-55361800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr2:55360600-55361800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:55360600-55361800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:55360600-55361800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr2:55360600-55361800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr2:55360600-55361800	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr2:55360600-55361800	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr2:55360600-55361800	Enhancers	Fetal Heart	heart
22	chr2:55360600-55361800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr2:55360600-55361800	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr2:55360600-55361800	Flanking Active TSS	NHEK	skin
25	chr2:55360600-55362000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr2:55360600-55362000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr2:55360600-55362200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:55360600-55362200	Enhancers	Fetal Muscle Leg	muscle
29	chr2:55360600-55362200	Enhancers	Gastric	stomach
30	chr2:55360600-55362200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr2:55360600-55362200	Enhancers	Spleen	Spleen
32	chr2:55360800-55361800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:55360800-55361800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:55360800-55361800	Enhancers	Fetal Brain Male	brain
35	chr2:55360800-55361800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr2:55360800-55361800	Enhancers	A549	lung
37	chr2:55360800-55361800	Enhancers	Hela-S3	cervix
38	chr2:55360800-55362000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:55360800-55362200	Enhancers	Lung	lung
40	chr2:55360800-55362200	Enhancers	HUVEC	blood vessel
41	chr2:55360800-55362400	Enhancers	Placenta	Placenta
42	chr2:55360800-55362600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:55361000-55362200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr2:55361000-55362200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:55361000-55362200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:55361000-55362200	Enhancers	Pancreas	Pancrea
47	chr2:55361000-55362200	Enhancers	NHLF	lung
48	chr2:55361000-55362400	Enhancers	Small Intestine	intestine
49	chr2:55361000-55363000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:55361000-55364000	Weak transcription	Left Ventricle	heart

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