Variant report

Variant	rs11052771
Chromosome Location	chr12:9891371-9891372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9884042..9890048-chr12:9890384..9897967,9	K562	blood:
2	chr12:9889267..9893240-chr12:9909352..9912451,4	K562	blood:

Variant related genes	Relation type
ENSG00000184293	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1008611	0.81[ASN][1000 genomes]
rs1051065	0.82[ASN][1000 genomes]
rs10743821	0.81[ASN][1000 genomes]
rs10743822	0.81[ASN][1000 genomes]
rs10772099	0.92[AFR][1000 genomes]
rs10772104	0.91[ASN][1000 genomes]
rs10772119	0.82[ASN][1000 genomes]
rs10772120	0.82[ASN][1000 genomes]
rs10844676	0.91[ASN][1000 genomes]
rs11052718	0.81[ASN][1000 genomes]
rs11052785	0.81[ASN][1000 genomes]
rs12578698	0.81[ASN][1000 genomes]
rs12582616	0.81[ASN][1000 genomes]
rs1990533	0.81[ASN][1000 genomes]
rs2192433	0.81[ASN][1000 genomes]
rs2192434	0.81[ASN][1000 genomes]
rs2192435	0.81[ASN][1000 genomes]
rs2401396	0.81[ASN][1000 genomes]
rs2401397	0.82[ASN][1000 genomes]
rs2401398	0.82[ASN][1000 genomes]
rs3176800	0.82[ASN][1000 genomes]
rs3176802	0.82[ASN][1000 genomes]
rs3176806	0.82[ASN][1000 genomes]
rs34201389	0.81[ASN][1000 genomes]
rs4763835	0.81[ASN][1000 genomes]
rs4763865	0.91[ASN][1000 genomes]
rs4763867	0.91[ASN][1000 genomes]
rs61913428	0.81[ASN][1000 genomes]
rs6416258	0.82[ASN][1000 genomes]
rs704223	0.82[ASN][1000 genomes]
rs7297324	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7312624	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7956709	0.84[AFR][1000 genomes]
rs7971721	0.91[ASN][1000 genomes]
rs929615	0.82[ASN][1000 genomes]
rs982511	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv983235	chr12:9852218-9893776	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11052771	CLEC2D	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9885000-9892000	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:9885800-9892400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:9886000-9891800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:9886000-9892000	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:9886000-9894600	Enhancers	Primary B cells from cord blood	blood
6	chr12:9887600-9893800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:9889000-9891400	Enhancers	Adipose Nuclei	Adipose
8	chr12:9889000-9891800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:9889000-9892000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:9889000-9892000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:9889000-9895200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:9889200-9891400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:9889200-9891600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:9889200-9891800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:9889200-9892200	Weak transcription	Thymus	Thymus
16	chr12:9889400-9891400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:9889400-9891600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:9889600-9891600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:9889800-9892800	Weak transcription	Fetal Thymus	thymus
20	chr12:9890000-9891400	Enhancers	Primary T cells from cord blood	blood
21	chr12:9890200-9892200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:9890400-9892600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:9890400-9892800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:9890400-9893800	Weak transcription	Dnd41	blood
25	chr12:9890400-9895200	Weak transcription	Hela-S3	cervix
26	chr12:9890400-9897600	Weak transcription	HUVEC	blood vessel
27	chr12:9890600-9891800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:9890600-9892600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr12:9890800-9891400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr12:9890800-9892000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:9891000-9892600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:9891000-9893000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:9891200-9892800	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links