Variant report

Variant	rs7969022
Chromosome Location	chr12:9894663-9894664
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9888502..9890048-chr12:9893130..9895750,2	K562	blood:
2	chr12:9893977..9895808-chr12:9897315..9898952,2	K562	blood:
3	chr12:9884042..9890048-chr12:9890384..9897967,9	K562	blood:
4	chr12:9894583..9897209-chr12:9902973..9905034,4	K562	blood:

Variant related genes	Relation type
ENSG00000184293	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10161013	0.93[EUR][1000 genomes]
rs10492164	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1051065	0.94[ASW][hapmap]
rs10743828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772093	0.92[CEU][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes]
rs10772099	0.94[EUR][1000 genomes]
rs10772104	0.94[ASW][hapmap]
rs10772106	0.80[EUR][1000 genomes]
rs10844656	1.00[CEU][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1134543	0.81[EUR][1000 genomes]
rs11835594	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12304982	0.92[CEU][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs12820281	0.94[EUR][1000 genomes]
rs12824727	0.92[EUR][1000 genomes]
rs13377908	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs13377939	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs16923367	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs16927874	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs17806015	1.00[ASN][1000 genomes]
rs2080210	0.80[EUR][1000 genomes]
rs2268145	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2401387	0.81[EUR][1000 genomes]
rs2401388	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs3136576	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176793	1.00[ASN][1000 genomes]
rs34584384	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34633868	0.90[EUR][1000 genomes]
rs35990903	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3922289	0.92[EUR][1000 genomes]
rs4611290	0.81[EUR][1000 genomes]
rs4763296	0.90[EUR][1000 genomes]
rs4763299	1.00[ASN][1000 genomes]
rs4763864	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55715780	0.81[EUR][1000 genomes]
rs56980650	0.81[EUR][1000 genomes]
rs59016059	0.93[EUR][1000 genomes]
rs59210706	0.81[EUR][1000 genomes]
rs6488123	0.92[CEU][hapmap]
rs6488176	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704223	0.94[ASW][hapmap]
rs71447599	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71447600	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7301386	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7312624	0.89[ASW][hapmap]
rs74062704	0.81[EUR][1000 genomes]
rs74062708	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74065337	0.81[EUR][1000 genomes]
rs74065339	0.81[EUR][1000 genomes]
rs74065340	0.81[EUR][1000 genomes]
rs766502	1.00[ASN][1000 genomes]
rs7962964	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs7964917	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7976474	0.92[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7969022	RP11-75L1.2	cis	lung	GTEx
rs7969022	RP11-75L1.2	cis	Skin Sun Exposed Lower leg	GTEx
rs7969022	RP11-75L1.2	cis	Whole Blood	GTEx
rs7969022	DCAL1	cis	multi-tissue	Pritchard

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9889000-9895200	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr12:9890400-9895200	Weak transcription	Hela-S3	cervix
3	chr12:9890400-9897600	Weak transcription	HUVEC	blood vessel
4	chr12:9892400-9894800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:9892400-9895800	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:9892600-9894800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr12:9892600-9894800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:9892800-9895200	Weak transcription	Colonic Mucosa	Colon
9	chr12:9892800-9895200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:9892800-9903200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:9893000-9894800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:9893000-9895200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:9893000-9895400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:9893000-9896400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:9893000-9896800	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:9893200-9894800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:9893200-9894800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:9893200-9895200	Weak transcription	Esophagus	oesophagus
19	chr12:9893200-9895400	Weak transcription	Placenta	Placenta
20	chr12:9893400-9895200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:9893400-9895200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:9893400-9895400	Weak transcription	Adipose Nuclei	Adipose
23	chr12:9893400-9910800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:9893600-9895200	Weak transcription	Pancreas	Pancrea
25	chr12:9893600-9895200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:9893600-9896200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:9894000-9896000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:9894200-9895200	Enhancers	K562	blood
29	chr12:9894200-9895600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:9894200-9895800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr12:9894200-9895800	Enhancers	Thymus	Thymus
32	chr12:9894200-9896200	Enhancers	Fetal Thymus	thymus
33	chr12:9894200-9896800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:9894400-9894800	Active TSS	GM12878-XiMat	blood
35	chr12:9894400-9895800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr12:9894400-9896200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:9894600-9894800	Flanking Active TSS	Dnd41	blood
38	chr12:9894600-9895200	Active TSS	Primary T cells fromperipheralblood	blood
39	chr12:9894600-9895400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr12:9894600-9895600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:9894600-9895800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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