Variant report

Variant	rs12286643
Chromosome Location	chr11:36304012-36304013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36303032..36306180-chr11:36307506..36310865,3	K562	blood:
2	chr11:36301790..36306612-chr11:36307311..36312383,9	K562	blood:

Variant related genes	Relation type
ENSG00000110442	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10836525	1.00[EUR][1000 genomes]
rs11033520	1.00[EUR][1000 genomes]
rs12272725	1.00[EUR][1000 genomes]
rs12274512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282145	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283981	0.90[EUR][1000 genomes]
rs12285631	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285953	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12286007	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286010	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12292727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294357	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289984	1.00[EUR][1000 genomes]
rs2289985	1.00[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36287600-36304800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr11:36288000-36310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:36288400-36304600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:36290800-36310400	Weak transcription	Stomach Mucosa	stomach
5	chr11:36292000-36309600	Weak transcription	Psoas Muscle	Psoas
6	chr11:36292200-36309600	Weak transcription	A549	lung
7	chr11:36295000-36310000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:36295800-36306200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:36296400-36305400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:36296400-36309800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:36296600-36309600	Weak transcription	Fetal Lung	lung
12	chr11:36296600-36309600	Weak transcription	NHLF	lung
13	chr11:36296800-36304200	Weak transcription	GM12878-XiMat	blood
14	chr11:36298200-36310000	Weak transcription	NHDF-Ad	bronchial
15	chr11:36298400-36309400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:36300600-36309600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:36300600-36309600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:36300600-36309600	Weak transcription	Right Ventricle	heart
19	chr11:36300800-36304200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:36300800-36304400	Weak transcription	Aorta	Aorta
21	chr11:36300800-36304400	Weak transcription	Hela-S3	cervix
22	chr11:36300800-36309200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:36300800-36309600	Weak transcription	Pancreas	Pancrea
24	chr11:36300800-36309600	Weak transcription	Spleen	Spleen
25	chr11:36300800-36310000	Weak transcription	Colonic Mucosa	Colon
26	chr11:36300800-36310000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:36300800-36310000	Weak transcription	Gastric	stomach
28	chr11:36301000-36307400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:36301000-36309200	Weak transcription	Dnd41	blood
30	chr11:36301000-36309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:36301000-36309600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:36301000-36309800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:36301000-36309800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:36301200-36304200	Weak transcription	Fetal Intestine Large	intestine
35	chr11:36301200-36309400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:36301200-36309400	Weak transcription	HepG2	liver
37	chr11:36301200-36309600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:36301200-36309800	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:36301200-36310200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:36301400-36309200	Weak transcription	Brain Angular Gyrus	brain
41	chr11:36301400-36309400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:36301400-36309600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:36301600-36310000	Weak transcription	Placenta	Placenta
44	chr11:36301800-36309200	Weak transcription	Fetal Brain Female	brain
45	chr11:36301800-36309600	Weak transcription	Left Ventricle	heart
46	chr11:36301800-36310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:36302000-36304200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:36302000-36309200	Weak transcription	Liver	Liver
49	chr11:36302000-36310000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:36302000-36310000	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links